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
PTPRB	5787	broad.mit.edu	37	12	70960368	70960368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:70960368C>A	ENST00000334414.6	-	15	3795	c.3751G>T	c.(3751-3753)Gaa>Taa	p.E1251*	PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.E1250*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.E943*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.E943*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.E1163*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.E1033*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1033	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATTCCATTTTCAGTTAGAAGC	0.408000													19	83					2.35188e-11	2.55463e-11	1	1	0
BCOR	54880	broad.mit.edu	37	X	39923194	39923194	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:39923194C>T	ENST00000378444.4	-	8	3742	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K	BCOR_ENST00000342274.4_Intron|BCOR_ENST00000378463.1_Intron|BCOR_ENST00000397354.3_Intron|BCOR_ENST00000378455.4_Intron	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1172					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATTTCCCTCTCAGGCCAGTCA	0.478000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	37					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394517	17394517	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:17394517C>T	ENST00000394458.3	+	5	1220	c.944C>T	c.(943-945)tCt>tTt	p.S315F	ANKLE1_ENST00000594072.1_Missense_Mutation_p.S304F|ANKLE1_ENST00000598347.1_Missense_Mutation_p.S315F|ANKLE1_ENST00000404085.1_Missense_Mutation_p.S337F|ANKLE1_ENST00000433424.2_Missense_Mutation_p.S369F	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	315						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CCTGGAGCTTCTGACTGCCAC	0.597000													5	94					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023419	6023419	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:6023419C>T	ENST00000330728.4	-	1	1005	c.960G>A	c.(958-960)agG>agA	p.R320R		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATTCTCTTCCTGGCCAGGT	0.537000													6	32					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412011	63412011	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:63412011C>T	ENST00000330258.3	-	2	1428	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	AMER1_ENST00000403336.1_Missense_Mutation_p.E386K|AMER1_ENST00000374869.3_Missense_Mutation_p.E386K	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									tccacctcttcttcctcttct	0.517000													8	52					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48229104	48229104	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:48229104G>C	ENST00000263277.3	+	4	789	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	EHD2_ENST00000538399.1_Missense_Mutation_p.E44Q|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	180					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CTGGTTCGCGGAGCGCGTGGA	0.632000													3	33					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37028525	37028525	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:37028525G>C	ENST00000379242.3	+	13	1442	c.1140G>C	c.(1138-1140)caG>caC	p.Q380H	VIT_ENST00000389975.3_Missense_Mutation_p.Q365H|VIT_ENST00000404084.1_Missense_Mutation_p.Q317H|VIT_ENST00000497382.1_Missense_Mutation_p.Q34H|VIT_ENST00000379241.3_Missense_Mutation_p.Q343H|VIT_ENST00000401530.1_Missense_Mutation_p.Q344H	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	365	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AAATTACTCAGAGAGGAGGAC	0.398000													11	151					0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2275143	2275143	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:2275143G>C	ENST00000242257.8	-	3	383	c.355C>G	c.(355-357)Ctg>Gtg	p.L119V	FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.L25V	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	119					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		GCTCCTTCCAGGGGGAATATG	0.488000													4	49					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79581141	79581141	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:79581141G>C	ENST00000372391.2	-	15	3106	c.3101C>G	c.(3100-3102)tCa>tGa	p.S1034*	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1034	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGTGGCTTCTGACTCGGAGCT	0.667000													4	53					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58453776	58453776	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:58453776G>T	ENST00000282308.3	-	3	596	c.400C>A	c.(400-402)Cat>Aat	p.H134N	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	134					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TGGTGCTGATGAAGGTATGCA	0.448000													7	97					0.00198382	0.00205635	1	1	0
ATM	472	broad.mit.edu	37	11	108205823	108205823	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:108205823G>A	ENST00000278616.4	+	55	8523	c.8138G>A	c.(8137-8139)aGa>aAa	p.R2713K	ATM_ENST00000452508.2_Missense_Mutation_p.R2713K|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2713	PI3K/PI4K.				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	p.R2713K(1)		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)		AAGGAGAGGAGACAGCTTGTT	0.378000			"""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)			4	72					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	40					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50294270	50294270	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:50294270G>C	ENST00000313601.6	+	6	1093	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	GNAI2_ENST00000440628.1_Missense_Mutation_p.E185Q|GNAI2_ENST00000536647.1_Missense_Mutation_p.E156Q|GNAI2_ENST00000451956.1_Missense_Mutation_p.E200Q|GNAI2_ENST00000266027.5_Missense_Mutation_p.E221Q|GNAI2_ENST00000422163.1_Missense_Mutation_p.E221Q|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	237					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GGTGCTAGCTGAGGACGAGGA	0.582000													6	48					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129203380	129203380	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:129203380G>A	ENST00000308167.5	-	8	1461	c.1082C>T	c.(1081-1083)tCt>tTt	p.S361F	ELF4_ENST00000335997.7_Missense_Mutation_p.S361F	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	361					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CAGACTCGCAGATGGCTGGAG	0.592000			T	ERG	AML								9	183					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028839	59028839	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:59028839C>A	ENST00000594051.1	-	2	682	c.202G>T	c.(202-204)Gag>Tag	p.E68*	ZBTB45_ENST00000354590.3_Nonsense_Mutation_p.E68*|ZBTB45_ENST00000600990.1_Nonsense_Mutation_p.E68*			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	68	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		ACACGGATCTCAGAGTGGCCG	0.647000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	47					5.9392e-07	6.32994e-07	1	1	0
OR5K1	26339	broad.mit.edu	37	3	98188847	98188847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:98188847C>T	ENST00000332650.5	+	1	524	c.427C>T	c.(427-429)Cag>Tag	p.Q143*		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTCTGCATTCAGATGACCAC	0.468000													6	113					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29643165	29643165	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:29643165G>C	ENST00000376883.1	-	5	701	c.290C>G	c.(289-291)tCa>tGa	p.S97*	ZFP57_ENST00000376881.3_Nonsense_Mutation_p.S97*|ZFP57_ENST00000488757.1_Nonsense_Mutation_p.S117*			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						ATTCTTACCTGAAAGGCCTTC	0.488000													10	113					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192125827	192125827	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:192125827C>T	ENST00000454309.2	-	1	1011	c.186G>A	c.(184-186)gtG>gtA	p.V62V	FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000445105.2_Intron|FGF12_ENST00000450716.1_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	62					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTCTCCGCCTCACCGGCCTCT	0.677000													20	168					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018713	161018713	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:161018713C>G	ENST00000368013.3	-	12	2418	c.2098G>C	c.(2098-2100)Gag>Cag	p.E700Q	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E523Q|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	700	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACTTTTGTCTCTTGGCTTCCC	0.542000													8	235					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113447007	113447007	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:113447007G>A	ENST00000392583.2	+	10	2218	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N	OAS2_ENST00000342315.4_Missense_Mutation_p.D671N|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	671	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.D671N(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGCTTCAAGGATGGGACTGG	0.512000													21	187					0	0	1	0	0
ABHD12B	145447	broad.mit.edu	37	14	51347258	51347258	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr14:51347258A>G	ENST00000337334.2	+	4	439	c.424A>G	c.(424-426)Att>Gtt	p.I142V	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000353130.1_Missense_Mutation_p.I65V|ABHD12B_ENST00000395752.1_Missense_Mutation_p.I35V	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	142							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GAACCCAATTATTGTTTATCT	0.502000													7	107					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546685	9546685	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:9546685C>T	ENST00000378429.3	-	6	1883	c.1337G>A	c.(1336-1338)aGg>aAg	p.R446K	PAK7_ENST00000378423.1_Missense_Mutation_p.R446K|PAK7_ENST00000353224.5_Missense_Mutation_p.R446K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	446	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAAGTATTCCCTGGGGTCTCC	0.592000													5	107					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48809834	48809834	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr8:48809834G>C	ENST00000314191.2	-	30	3541	c.3485C>G	c.(3484-3486)tCa>tGa	p.S1162*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S1162*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1162					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)				TAAACACAATGATGCGGAAGG	0.428000								Non-homologous end-joining					13	145					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134050904	134050904	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:134050904C>T	ENST00000359428.5	+	23	3359	c.3215C>T	c.(3214-3216)aCg>aTg	p.T1072M	NUP214_ENST00000411637.2_Missense_Mutation_p.T1062M|NUP214_ENST00000451030.1_Missense_Mutation_p.T1073M			P35658	NU214_HUMAN	nucleoporin 214kDa	1072	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ATGCTTGCCACGAAAACCGTG	0.532000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								4	51					0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56224636	56224636	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:56224636G>A	ENST00000381226.3	-	10	912	c.897C>T	c.(895-897)ctC>ctT	p.L299L	MIER3_ENST00000409421.1_Silent_p.L231L|MIER3_ENST00000381199.3_Silent_p.L294L|MIER3_ENST00000381213.3_Silent_p.L293L|CTD-2310F14.1_ENST00000606813.1_RNA			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	294	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CAAAAAGCATGAGTGCATGTT	0.318000													4	65					0	0	1	0	0
KLRK1	22914	broad.mit.edu	37	12	10532339	10532339	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:10532339G>A	ENST00000240618.6	-	4	341	c.201C>T	c.(199-201)ttC>ttT	p.F67F	RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Silent_p.F67F	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	67					natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CCATAATAATGAAACGGATTC	0.348000													6	65					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103234305	103234305	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:103234305C>G	ENST00000424685.2	-	27	3895	c.3736G>C	c.(3736-3738)Gat>Cat	p.D1246H	RELN_ENST00000343529.5_Missense_Mutation_p.D1246H|RELN_ENST00000428762.1_Missense_Mutation_p.D1246H			P78509	RELN_HUMAN	reelin	1246					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATAGGGTAATCAAAAGCTGGC	0.333000													9	52					0	0	1	0	0
RTBDN	83546	broad.mit.edu	37	19	12940802	12940802	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:12940802G>C	ENST00000589272.1	-	3	417	c.88C>G	c.(88-90)Cag>Gag	p.Q30E	RTBDN_ENST00000458671.2_5'UTR|RTBDN_ENST00000393233.2_5'UTR|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000322912.5_Missense_Mutation_p.Q30E|RTBDN_ENST00000592204.1_Missense_Mutation_p.Q8E			Q9BSG5	RTBDN_HUMAN	retbindin	0						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						ATGTCCACCTGAGATAAGAGC	0.597000													3	18					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99019790	99019790	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr8:99019790G>C	ENST00000254898.5	+	10	1765	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	MATN2_ENST00000520016.1_Missense_Mutation_p.E512Q|MATN2_ENST00000522025.2_Missense_Mutation_p.E228Q|MATN2_ENST00000524308.1_Missense_Mutation_p.E471Q|MATN2_ENST00000521689.1_Missense_Mutation_p.E512Q	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	512	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCAGTGTCCTGAGGGACACGT	0.557000													19	63					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27447627	27447627	+	Silent	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:27447627G>T	ENST00000264705.4	+	10	1431	c.1269G>T	c.(1267-1269)ctG>ctT	p.L423L	CAD_ENST00000403525.1_Silent_p.L423L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	423	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTAAGGCCCTGAAGGAGGAAA	0.483000													6	129					0.248553	0.249432	1	1	0
SRC	6714	broad.mit.edu	37	20	36031195	36031195	+	Silent	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:36031195C>G	ENST00000373578.2	+	13	1663	c.1314C>G	c.(1312-1314)ctC>ctG	p.L438L	SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373567.2_Silent_p.L438L|SRC_ENST00000358208.4_Silent_p.L438L|SRC_ENST00000360723.4_Silent_p.L444L|SRC_ENST00000445403.1_Silent_p.L438L|SRC_ENST00000373558.2_Silent_p.L444L	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	438	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	AAGCTGCCCTCTATGGCCGCT	0.582000													4	78					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461939	50461939	+	Silent	SNP	G	G	A	rs139706382		TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:50461939G>A	ENST00000447370.2	-	7	1414	c.1324C>T	c.(1324-1326)Ctg>Ttg	p.L442L	SIGLEC11_ENST00000426971.2_Silent_p.L442L	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	442	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGGGAGCCCAGAGGGTGCTGA	0.662000													6	86					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40295447	40295447	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:40295447G>A	ENST00000263791.5	+	23	3332	c.3289G>A	c.(3289-3291)Gag>Aag	p.E1097K	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E1069K|EIF2AK4_ENST00000559311.1_3'UTR	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1097	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACAAATATATGAGCACAACGA	0.483000													6	56					0	0	1	0	0
CMTR2	55783	broad.mit.edu	37	16	71318938	71318938	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:71318938C>G	ENST00000338099.5	-	3	1222	c.886G>C	c.(886-888)Gac>Cac	p.D296H	CMTR2_ENST00000434935.2_Missense_Mutation_p.D296H					cap methyltransferase 2	296																	TGGACTTGGTCAAAACAACAG	0.428000													3	52					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127670589	127670589	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:127670589G>A	ENST00000249363.3	-	2	362	c.105C>T	c.(103-105)atC>atT	p.I35I	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	35						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CGGCAGCAGCGATGGCTGCAC	0.637000													5	116					0	0	1	0	0
CDKN2B-AS1	100048912	broad.mit.edu	37	9	22029510	22029510	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:22029510C>T	ENST00000404796.2	+	5	539	c.426C>T	c.(424-426)ctC>ctT	p.L142L	CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA														p.0(1)|p.0?(1)									CAGCTCCTCTCATCTGATCTC	0.468000													12	99					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96368113	96368113	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:96368113C>T	ENST00000261208.3	-	21	2239	c.1871G>A	c.(1870-1872)aGa>aAa	p.R624K	HAL_ENST00000541929.1_Missense_Mutation_p.R416K|HAL_ENST00000538703.1_3'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	624					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ATGCTCCATTCTGTATTTTTC	0.398000													9	95					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51072505	51072505	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:51072505G>C	ENST00000301180.5	+	8	994	c.960G>C	c.(958-960)caG>caC	p.Q320H		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	320						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AGGGACGGCAGATGACCCCTG	0.517000													8	51					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134232965	134232965	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr8:134232965G>A	ENST00000250160.6	+	3	597	c.491G>A	c.(490-492)cGt>cAt	p.R164H	WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	164	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGCCCCCCGCGTCTCTGGTGC	0.662000													7	66					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407433	9407433	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:9407433G>A	ENST00000591998.1	-	6	875	c.647C>T	c.(646-648)tCt>tTt	p.S216F	ZNF699_ENST00000308650.3_Missense_Mutation_p.S216F			Q32M78	ZN699_HUMAN	zinc finger protein 699	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCAGTATGAGACCTGATGTG	0.433000													19	151					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25141678	25141678	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:25141678T>A	ENST00000260600.5	-	1	1030	c.179A>T	c.(178-180)gAg>gTg	p.E60V		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	60					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CTCCAAGGACTCCGGCACGAA	0.622000													4	30					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249642	238249642	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:238249642C>G	ENST00000295550.4	-	38	8369	c.7917G>C	c.(7915-7917)aaG>aaC	p.K2639N	COL6A3_ENST00000353578.4_Missense_Mutation_p.K2433N|COL6A3_ENST00000472056.1_Missense_Mutation_p.K2032N|COL6A3_ENST00000346358.4_Missense_Mutation_p.K2439N|COL6A3_ENST00000347401.3_Missense_Mutation_p.K2438N|COL6A3_ENST00000409809.1_Missense_Mutation_p.K2433N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2639	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTATGTACTTCTTCATCTCAT	0.567000													6	92					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119204150	119204150	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr4:119204150C>T	ENST00000296498.3	-	12	2438	c.2156G>A	c.(2155-2157)cGa>cAa	p.R719Q	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	719	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GCGGTCGGGTCGATACTCCCG	0.463000													19	135					0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73466824	73466824	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:73466824C>T	ENST00000258091.5	+	2	201	c.60C>T	c.(58-60)ccC>ccT	p.P20P	CCT7_ENST00000539919.1_5'UTR|CCT7_ENST00000473786.1_Intron|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000537131.1_5'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	20					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						AAGGCATCCCCCAGCTTGTGA	0.453000													4	32					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	24995118	24995118	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:24995118C>G	ENST00000261192.7	-	7	1241	c.715G>C	c.(715-717)Gat>Cat	p.D239H	BCAT1_ENST00000539780.1_Missense_Mutation_p.D202H|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.D251H|BCAT1_ENST00000342945.5_Missense_Mutation_p.D178H|BCAT1_ENST00000538118.1_Missense_Mutation_p.D238H	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	239					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CACCCATTATCTACTGCTTCA	0.418000													4	37					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45514839	45514839	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:45514839C>G	ENST00000371438.1	+	8	1721	c.1363C>G	c.(1363-1365)Cag>Gag	p.Q455E	RUNX2_ENST00000352853.5_Missense_Mutation_p.Q523E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q501E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q441E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q419E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q455E|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q433E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	455	Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGGATCCTATCAGTTTCCCAT	0.567000													4	32					0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58806546	58806546	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:58806546G>A	ENST00000196548.5	+	4	1503	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	ZNF8_ENST00000608843.1_Missense_Mutation_p.E458K|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GAGTCAAGATGAGAGGACTCA	0.522000													12	150					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304919	53304919	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:53304919G>C	ENST00000438150.2	-	2	913	c.20C>G	c.(19-21)tCa>tGa	p.S7*	ZNF28_ENST00000594602.1_Silent_p.L99L|ZNF28_ENST00000414252.2_Nonsense_Mutation_p.S7*|ZNF28_ENST00000339844.6_Intron|ZNF28_ENST00000457749.2_Nonsense_Mutation_p.S60*|ZNF28_ENST00000360272.4_Nonsense_Mutation_p.S7*			P17035	ZNF28_HUMAN	zinc finger protein 28	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTGCCCTGTTGAGAAGAATGT	0.378000													8	154					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149514	129149514	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:129149514C>T	ENST00000540052.1	+	3	2810	c.2766C>T	c.(2764-2766)gtC>gtT	p.V922V	BCORL1_ENST00000218147.7_Silent_p.V922V|BCORL1_ENST00000303743.5_Silent_p.V922V|BCORL1_ENST00000359304.2_Silent_p.V922V	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	922					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAATCCTGTCCTCTTGACCC	0.557000													8	56					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40723715	40723715	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:40723715C>T	ENST00000309930.5	+	13	1195	c.1171C>T	c.(1171-1173)Ctt>Ttt	p.L391F	C7orf10_ENST00000401647.2_Intron|C7orf10_ENST00000335693.4_Intron	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	370							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						cttccttcatcttcaaggatc	0.473000													6	75					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222801121	222801121	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:222801121G>C	ENST00000344922.5	+	4	584	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	MIA3_ENST00000344507.1_Missense_Mutation_p.E187Q|MIA3_ENST00000344441.6_Missense_Mutation_p.E187Q|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	187					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCCAACTCAGAGGAAAGTGA	0.408000													6	47					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172744988	172744988	+	Silent	SNP	A	A	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:172744988A>T	ENST00000265087.4	-	4	2080	c.771T>A	c.(769-771)ggT>ggA	p.G257G		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	257					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACCCTTGGCACCTCGGCCAG	0.672000													5	78					0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129324	6129324	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:6129324C>G	ENST00000316529.3	+	1	411	c.316C>G	c.(316-318)Cag>Gag	p.Q106E		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTTTTGCTCAGATCTATGC	0.522000													4	73					0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50115073	50115073	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:50115073C>G	ENST00000378302.2	-	12	1654	c.1394G>C	c.(1393-1395)aGa>aCa	p.R465T	RCBTB1_ENST00000258646.3_Missense_Mutation_p.R465T	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	465					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AGTAATTCCTCTCTTGATAAT	0.373000													6	63					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41379735	41379735	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:41379735C>T	ENST00000318588.9	-	27	2749	c.2704G>A	c.(2704-2706)Gag>Aag	p.E902K	CASK_ENST00000442742.2_Missense_Mutation_p.E879K|CASK_ENST00000361962.4_Missense_Mutation_p.E890K|CASK_ENST00000378166.4_Missense_Mutation_p.E902K|CASK_ENST00000378163.1_Missense_Mutation_p.E907K|CASK_ENST00000378158.1_Missense_Mutation_p.E890K|CASK_ENST00000421587.2_Missense_Mutation_p.E878K|CASK-AS1_ENST00000451126.1_RNA			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	907	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ACAGCTTCCTCCAGATGTCTG	0.488000													5	44					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963137	73963137	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:73963137C>G	ENST00000055682.6	-	3	1866	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTAAGTTGCTCTACTTCAGTC	0.428000													20	169					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123217380	123217380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:123217380C>T	ENST00000371160.1	+	29	3324	c.3034C>T	c.(3034-3036)Cga>Tga	p.R1012*	STAG2_ENST00000218089.9_Nonsense_Mutation_p.R1012*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R1012*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R1012*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R1012*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R943*|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1012					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.R1012*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAAACTACTTCGACAAGACAA	0.343000													9	111					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123345037	123345037	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:123345037C>G	ENST00000253083.4	+	27	2752	c.2627C>G	c.(2626-2628)tCc>tGc	p.S876C		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	876	I/LWEQ.|Important for actin binding.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ATCTCGGCCTCCAAGGCTGTG	0.647000											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	63					0	0	1	0	0
DRG1	4733	broad.mit.edu	37	22	31822619	31822619	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:31822619C>G	ENST00000331457.4	+	7	893	c.732C>G	c.(730-732)atC>atG	p.I244M		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	244					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	p.I244M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TCCCCTGTATCTATGTGTTAA	0.423000													10	73					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48472032	48472032	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:48472032C>T	ENST00000417961.1	+	8	885	c.675C>T	c.(673-675)ttC>ttT	p.F225F	SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000361573.2_Silent_p.F209F	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	209						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTGCCATTTTCAATGCACTTC	0.478000													19	88					0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44501497	44501497	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:44501497G>C	ENST00000270014.2	+	5	1616	c.1488G>C	c.(1486-1488)agG>agC	p.R496S	RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.R507S|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.R496S	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	496						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TTGTACACAGGACATACCGTA	0.458000													6	102					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138265335	138265335	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:138265335G>C	ENST00000343526.4	+	16	2829	c.2614G>C	c.(2614-2616)Gac>Cac	p.D872H	TRIM24_ENST00000415680.2_Missense_Mutation_p.D838H			O15164	TIF1A_HUMAN	tripartite motif containing 24	872					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTCTGCCGAGACTTATCTAA	0.388000													15	132					0	0	1	0	0
PRR3	80742	broad.mit.edu	37	6	30529840	30529840	+	Silent	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:30529840C>G	ENST00000376560.3	+	3	858	c.399C>G	c.(397-399)ctC>ctG	p.L133L	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Silent_p.L112L	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	133							nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						CTCGAAGGCTCAAAAGCTGGT	0.542000													7	45					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131915111	131915111	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:131915111C>G	ENST00000378823.3	+	4	869	c.51C>G	c.(49-51)ttC>ttG	p.F17L	RAD50_ENST00000265335.6_Missense_Mutation_p.F156L	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	156					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGTCATTTTCTGTCATCAAG	0.378000								Homologous recombination					4	66					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376452	113376452	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:113376452C>T	ENST00000316407.4	-	7	4487	c.4077G>A	c.(4075-4077)ctG>ctA	p.L1359L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.L1359L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1359					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTCTGCTCATCAGGGACATAC	0.473000													5	70					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42793358	42793358	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:42793358C>G	ENST00000572681.2	+	9	3955	c.3887C>G	c.(3886-3888)tCt>tGt	p.S1296C	CIC_ENST00000575354.2_Missense_Mutation_p.S387C|CIC_ENST00000160740.3_Missense_Mutation_p.S387C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	387	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCATCGTACTCTGGCCCAAAG	0.672000			"""Mis, F, S"""		oligodendroglioma								5	108					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51224088	51224088	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr14:51224088C>G	ENST00000245441.5	-	18	3850	c.3660G>C	c.(3658-3660)aaG>aaC	p.K1220N	NIN_ENST00000453196.1_Missense_Mutation_p.K1220N|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.K1220N|NIN_ENST00000530997.2_Missense_Mutation_p.K1220N|NIN_ENST00000382041.3_Missense_Mutation_p.K1220N|NIN_ENST00000382043.4_Intron	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1220					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GGTCCTGTTTCTTTTCAGAAG	0.418000			T	PDGFRB	MPD								11	131					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61607519	61607519	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:61607519C>T	ENST00000583023.1	+	3	386	c.375C>T	c.(373-375)ttC>ttT	p.F125F	KCNH6_ENST00000580652.1_Silent_p.F125F|KCNH6_ENST00000456941.2_Silent_p.F125F|KCNH6_ENST00000581784.1_Silent_p.F125F|KCNH6_ENST00000314672.5_Silent_p.F125F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	125	PAC.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCATCATGTTCATTCTCAACT	0.632000													6	42					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126994	19126994	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:19126994C>T	ENST00000381440.3	+	1	1741	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	404						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCTATCCTCATATGTGCTC	0.637000													16	111					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21736405	21736405	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr18:21736405G>A	ENST00000399481.2	+	2	798	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	CABYR_ENST00000399499.1_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000415309.2_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	314					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					GCAACTGCCAGAACAAATAGT	0.383000													4	60					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154738094	154738094	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:154738094G>C	ENST00000404141.1	-	20	3329	c.3175C>G	c.(3175-3177)Caa>Gaa	p.Q1059E	PAXIP1_ENST00000397192.1_Missense_Mutation_p.Q1059E|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1059	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCCAGCGTTTGAGTGAGCACT	0.418000													17	115					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813321	2813321	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:2813321C>T	ENST00000301740.8	+	11	3341	c.2792C>T	c.(2791-2793)tCt>tTt	p.S931F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	931	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGAAGCCATTCTGGCTCCTCT	0.488000													5	69					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108930	151108930	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:151108930G>A	ENST00000341697.3	-	12	2791	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	367	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTACCTGGGTGAGGGAACTCT	0.552000													18	340					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7133196	7133196	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:7133196G>C	ENST00000005340.5	-	5	869	c.587C>G	c.(586-588)tCt>tGt	p.S196C	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Missense_Mutation_p.S190C	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	196					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CATGAGGGTAGAGGAGCTCTC	0.632000													3	40					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9230323	9230323	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:9230323C>T	ENST00000318602.7	-	26	3557	c.3250G>A	c.(3250-3252)Ggg>Agg	p.G1084R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1084					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGCAGTGACCCAGAGCTCCTG	0.458000													9	74					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62626426	62626426	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:62626426C>T	ENST00000535781.1	+	5	707	c.596C>T	c.(595-597)tCa>tTa	p.S199L	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	199					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					AACCATACCTCAGTGGATCCC	0.498000													8	57					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135751656	135751656	+	Silent	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:135751656G>C	ENST00000250617.6	-	21	3380	c.2175C>G	c.(2173-2175)gtC>gtG	p.V725V	ARHGEF6_ENST00000535227.1_Silent_p.V598V|ARHGEF6_ENST00000370622.1_Silent_p.V571V|ARHGEF6_ENST00000370620.1_Silent_p.V571V	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	725					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TCAGTTCTCTGACCTCGTCCT	0.393000													6	107					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37905272	37905272	+	Nonstop_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:37905272C>G	ENST00000592490.1	-	4	393	c.65G>C	c.(64-66)tGa>tCa	p.*22S	ZNF569_ENST00000392149.2_Missense_Mutation_p.L96F|ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000316950.6_Missense_Mutation_p.L96F			Q5MCW4	ZN569_HUMAN	zinc finger protein 569	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAACTTGTCTCAAAAGTCTGT	0.313000													3	55					0	0	1	0	0
BNIP3	664	broad.mit.edu	37	10	133784416	133784416	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:133784416G>C	ENST00000540159.1	-	4	457	c.341C>G	c.(340-342)tCa>tGa	p.S114*	BNIP3_ENST00000368636.4_Nonsense_Mutation_p.S114*			Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	114					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TATCCAATCTGAGTTTTTCTT	0.443000													10	93					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166944802	166944802	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:166944802C>T	ENST00000510118.1	-	5	632		c.e5-1		RPS6KA2_ENST00000366863.2_Splice_Site|RPS6KA2_ENST00000503859.1_Splice_Site|RPS6KA2_ENST00000481261.2_Splice_Site|RPS6KA2_ENST00000265678.4_Splice_Site|RPS6KA2_ENST00000405189.3_Splice_Site			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2						axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCAGGAACACCTTAGCAAGAG	0.478000													11	65					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39262552	39262552	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:39262552C>T	ENST00000280481.7	+	1	1287	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	357					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTTGATCTTCAACCTTACTT	0.577000													7	58					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128934439	128934439	+	Silent	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:128934439C>A	ENST00000375990.3	+	32	3922	c.3519C>A	c.(3517-3519)ctC>ctA	p.L1173L	UGGT1_ENST00000259253.6_Silent_p.L1197L			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1197					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTATCGTCCTCAACAACTTCA	0.383000													22	168					9.57634e-11	1.0382e-10	1	1	0
CALD1	800	broad.mit.edu	37	7	134552507	134552507	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:134552507G>C	ENST00000361388.2	+	3	489	c.23G>C	c.(22-24)aGa>aCa	p.R8T	CALD1_ENST00000361675.2_Missense_Mutation_p.R8T|CALD1_ENST00000417172.1_Missense_Mutation_p.R8T|CALD1_ENST00000361901.2_Missense_Mutation_p.R8T|CALD1_ENST00000422748.1_Missense_Mutation_p.R8T	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	8					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAGCGTCGCAGAGAACTTAGA	0.433000													6	24					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95112454	95112454	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:95112454G>T	ENST00000377028.5	-	6	1483	c.1070C>A	c.(1069-1071)gCa>gAa	p.A357E	DCT_ENST00000446125.1_Missense_Mutation_p.A357E	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	357					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGTCCCATCTGCTTTATCAAA	0.428000													4	61					0.014758	0.014996	1	1	0
SMC6	79677	broad.mit.edu	37	2	17907701	17907701	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:17907701C>T	ENST00000448223.2	-	8	848	c.579G>A	c.(577-579)atG>atA	p.M193I	SMC6_ENST00000402989.1_Missense_Mutation_p.M193I|SMC6_ENST00000381272.4_Missense_Mutation_p.M219I|SMC6_ENST00000351948.4_Missense_Mutation_p.M193I	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	193					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTGCTTGCTCATTTCTTGTG	0.294000													8	76					0	0	1	0	0
GPRC5A	9052	broad.mit.edu	37	12	13062015	13062015	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:13062015C>G	ENST00000014914.5	+	2	1722	c.832C>G	c.(832-834)Cct>Gct	p.P278A	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	278						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CATGGATTATCCTGTTGAGGA	0.498000													6	39					0	0	1	0	0
MIR490	574443	broad.mit.edu	37	7	136848993	136848993	+	RNA	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:136848993G>A	ENST00000439694.1	-	0	164				hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000599888.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA																							TCTCCTGGATGATCCAGAACA	0.527000													3	30					0	0	1	0	0
IFNA17	3451	broad.mit.edu	37	9	21227648	21227648	+	Silent	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:21227648G>C	ENST00000413767.2	-	1	573	c.525C>G	c.(523-525)ctC>ctG	p.L175L		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	175					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTGAAAAAGAGAGAGATCTCA	0.373000													28	350					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142231206	142231206	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:142231206G>C	ENST00000350721.4	-	27	4869	c.4748C>G	c.(4747-4749)tCc>tGc	p.S1583C	ATR_ENST00000383101.3_Missense_Mutation_p.S1519C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1583					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTCAAGCATGGAGAACACAGT	0.428000								Other conserved DNA damage response genes					5	82					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151124035	151124035	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:151124035G>A	ENST00000370325.1	-	8	995	c.942C>T	c.(940-942)atC>atT	p.I314I	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Silent_p.I314I			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	314					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAACAGAGGTGATCCCTGCAA	0.512000													4	43					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39914675	39914675	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:39914675G>A	ENST00000393931.3	-	10	1867	c.1749C>T	c.(1747-1749)ctC>ctT	p.L583L	JUP_ENST00000393930.1_Silent_p.L583L|JUP_ENST00000310706.5_Silent_p.L583L|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	583					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GAATGGTGTTGAGCCGGAAGA	0.602000													9	41					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657507	49657507	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:49657507C>T	ENST00000252825.4	-	1	1174	c.988G>A	c.(988-990)Gag>Aag	p.E330K	HRC_ENST00000595625.1_Missense_Mutation_p.E330K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	330	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GAGACAGCCTCAACCTCTTCC	0.527000													7	54					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148344	129148344	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:129148344C>T	ENST00000540052.1	+	3	1640	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	BCORL1_ENST00000218147.7_Silent_p.S532S|BCORL1_ENST00000303743.5_Silent_p.S532S|BCORL1_ENST00000359304.2_Silent_p.S532S	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	532	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTTCCCCATCCGGTAGCACCA	0.587000													20	168					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14480226	14480226	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:14480226G>C	ENST00000249923.3	-	21	2954	c.2654C>G	c.(2653-2655)tCt>tGt	p.S885C	COPB1_ENST00000439561.2_Missense_Mutation_p.S885C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	885					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ACAGTAACCAGAAAGGGCCTG	0.378000													9	74					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990847	47990847	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:47990847G>C	ENST00000371741.4	-	2	1416	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	417					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATAGAACTCAGAGAAGTTATT	0.502000													5	76					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38638604	38638604	+	Silent	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:38638604G>C	ENST00000254051.6	-	7	1724	c.1566C>G	c.(1564-1566)ctC>ctG	p.L522L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	522	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTGCTCCTTTGAGATGCACTC	0.567000													4	64					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2940962	2940962	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr4:2940962C>G	ENST00000416614.2	-	17	2492	c.2427G>C	c.(2425-2427)aaG>aaC	p.K809N	NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Intron|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000507120.1_Intron|NOP14_ENST00000314262.6_Missense_Mutation_p.K809N|NOP14_ENST00000502735.1_Intron|NOP14-AS1_ENST00000512802.1_RNA|NOP14-AS1_ENST00000507999.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	809					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						ACTGATTGTCCTTGCGGATTT	0.502000													19	141					0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149919369	149919369	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:149919369G>A	ENST00000367411.2	-	8	1264	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335647.5_Nonsense_Mutation_p.Q336*|KATNA1_ENST00000335643.8_Nonsense_Mutation_p.Q260*	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	336					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CCATCCATCTGAACCAGCAGC	0.478000													5	65					0	0	1	0	0
PSPH	5723	broad.mit.edu	37	7	56088885	56088885	+	Silent	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:56088885C>G	ENST00000395471.3	-	4	826	c.21G>C	c.(19-21)ctG>ctC	p.L7L	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Silent_p.L7L			P78330	SERB_HUMAN	phosphoserine phosphatase	7					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAAGCTTCCTCAGCTCTGAGT	0.408000													6	59					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108954794	108954794	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:108954794G>T	ENST00000228284.3	-	1	371	c.137C>A	c.(136-138)gCg>gAg	p.A46E	SART3_ENST00000431469.2_Missense_Mutation_p.A46E|SART3_ENST00000546611.1_Missense_Mutation_p.A46E|SART3_ENST00000552221.1_5'UTR	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	46					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTTGTATGTCGCAGCGGCCAC	0.632000									Porokeratosis				5	22					0.00116845	0.00121785	1	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13941453	13941453	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:13941453C>T	ENST00000254323.2	+	13	2748	c.2559C>T	c.(2557-2559)ctC>ctT	p.L853L	ZSWIM4_ENST00000440752.2_Silent_p.L687L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	853							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCTGCTCTCTCAGCCACTCCC	0.647000													9	113					0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2510980	2510980	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:2510980C>T	ENST00000569496.1	+	4	419	c.360C>T	c.(358-360)tcC>tcT	p.S120S	C16orf59_ENST00000563531.1_Silent_p.S120S|C16orf59_ENST00000361837.4_Silent_p.S120S|C16orf59_ENST00000483320.1_5'UTR			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	120										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CGACAGCCTCCGCCCCACCGC	0.627000													4	44					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184093698	184093698	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:184093698G>C	ENST00000204615.7	-	3	333	c.119C>G	c.(118-120)tCc>tGc	p.S40C	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.S40C|THPO_ENST00000445696.2_Missense_Mutation_p.S40C	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	40					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGGACATGGGAGTCACGAAG	0.537000													13	52					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6433993	6433993	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:6433993C>G	ENST00000276893.5	+	3	632	c.464C>G	c.(463-465)tCt>tGt	p.S155C	RP11-307L3.4_ENST00000411561.1_RNA	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	155					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ACTAGAGCTTCTGATGGACAG	0.378000													3	47					0	0	1	0	0
TMEM37	140738	broad.mit.edu	37	2	120194998	120194998	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:120194998C>T	ENST00000306406.4	+	2	590	c.555C>T	c.(553-555)atC>atT	p.I185I	TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Silent_p.I197I	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	185						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TCAACAGCATCACCCATCCCT	0.502000													10	140					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148877856	148877856	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:148877856G>C	ENST00000296051.2	+	11	2036	c.1896G>C	c.(1894-1896)caG>caC	p.Q632H	HPS3_ENST00000460120.1_Missense_Mutation_p.Q467H	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	632						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAGTGGTTCAGATGTTTTATG	0.393000									Hermansky-Pudlak syndrome				12	111					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22893377	22893377	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:22893377G>A	ENST00000543184.1	-	3	1018	c.156C>T	c.(154-156)ctC>ctT	p.L52L	PRAME_ENST00000402697.1_Silent_p.L52L|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000406503.1_Silent_p.L52L|PRAME_ENST00000539862.1_Silent_p.L36L|PRAME_ENST00000398741.1_Silent_p.L52L|PRAME_ENST00000424204.2_Silent_p.L36L|PRAME_ENST00000398743.2_Silent_p.L52L|PRAME_ENST00000405655.3_Silent_p.L52L	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	52					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GTGGCGGGAAGAGCTCCCTGG	0.642000													24	54					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148472	129148472	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:129148472C>T	ENST00000540052.1	+	3	1768	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L	BCORL1_ENST00000218147.7_Missense_Mutation_p.S575L|BCORL1_ENST00000303743.5_Missense_Mutation_p.S575L|BCORL1_ENST00000359304.2_Missense_Mutation_p.S575L	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	575	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGTGGGAGCTCAGCCCCACCG	0.607000													9	71					0	0	1	0	0
OGFOD2	79676	broad.mit.edu	37	12	123463887	123463887	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:123463887C>T	ENST00000397389.2	+	8	1606	c.867C>T	c.(865-867)ctC>ctT	p.L289L	OGFOD2_ENST00000538628.1_Silent_p.L185L|OGFOD2_ENST00000454694.2_Silent_p.L185L|ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000536150.1_Silent_p.L185L|OGFOD2_ENST00000228922.7_Silent_p.L349L|OGFOD2_ENST00000545612.1_Silent_p.L185L|OGFOD2_ENST00000545317.1_Silent_p.L185L|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538755.1_Silent_p.L185L	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	349	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	TATGTGCGCTCACCTGAGCTT	0.632000													4	27					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	629747	629747	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr4:629747C>T	ENST00000255622.6	+	3	743	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	PDE6B_ENST00000496514.1_Missense_Mutation_p.R234C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	234					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGCGAGACGCGCCGCGGCCA	0.592000													4	33					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148523598	148523598	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:148523598G>A	ENST00000320356.2	-	8	976	c.855C>T	c.(853-855)ttC>ttT	p.F285F	EZH2_ENST00000476773.1_Silent_p.F276F|EZH2_ENST00000541220.1_Silent_p.F276F|EZH2_ENST00000350995.2_Silent_p.F246F|EZH2_ENST00000478654.1_Silent_p.F276F|EZH2_ENST00000460911.1_Silent_p.F285F|EZH2_ENST00000536783.1_Silent_p.F176F|EZH2_ENST00000483967.1_Silent_p.F276F	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	285	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATCGCCTACAGAAAAGCGTAT	0.393000			Mis		DLBCL								10	50					0	0	1	0	0
TMEM160	54958	broad.mit.edu	37	19	47549879	47549879	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:47549879C>G	ENST00000253047.6	-	2	288	c.273G>C	c.(271-273)caG>caC	p.Q91H		NM_017854.1	NP_060324.1	Q9NX00	TM160_HUMAN	transmembrane protein 160	91						integral to membrane				lung(1)	1		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)		CCATGTCACTCTGCATGAAGG	0.617000													5	121					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794493	42794493	+	Missense_Mutation	SNP	G	G	T	rs150975726		TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:42794493G>T	ENST00000572681.2	+	11	4368	c.4300G>T	c.(4300-4302)Ggc>Tgc	p.G1434C	CIC_ENST00000575354.2_Missense_Mutation_p.G525C|CIC_ENST00000160740.3_Missense_Mutation_p.G525C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGTAGCCTTTGGCAAAGGCTA	0.627000			"""Mis, F, S"""		oligodendroglioma								17	67					1.33834e-09	1.44266e-09	1	1	0
IGKV1-6	28943	broad.mit.edu	37	2	89265822	89265822	+	RNA	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:89265822C>G	ENST00000464162.1	-	0	338																											GTTGCAAAATCTTCAGGCTGC	0.498000													10	135					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73206028	73206028	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:73206028C>G	ENST00000245544.4	+	3	309	c.238C>G	c.(238-240)Ctg>Gtg	p.L80V	NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.L34V|NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.L80V|NUP85_ENST00000447371.2_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	80					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGGAATCTTTCTGGGCCTCCA	0.418000													8	61					0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37587044	37587044	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:37587044C>G	ENST00000378616.3	+	3	867	c.664C>G	c.(664-666)Cga>Gga	p.R222G	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	222			R -> G (in MLS).		amino acid transport	integral to membrane	protein binding|transporter activity	p.R222*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GATTGCCACTCGAGTTGTAGT	0.463000													5	49					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931345	144931345	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:144931345C>A	ENST00000529945.1	-	1	803	c.364G>T	c.(364-366)Gat>Tat	p.D122Y	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.D122Y|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TATCTCGCATCGGGTAAGACG	0.542000			T	PDGFRB	MPD								10	218					1.76689e-08	1.89382e-08	1	1	0
MUC16	94025	broad.mit.edu	37	19	9057644	9057644	+	Silent	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:9057644G>T	ENST00000397910.4	-	3	30005	c.29802C>A	c.(29800-29802)atC>atA	p.I9934I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9936	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCAGTGATGATGTCTGGAG	0.463000													13	179					0.00400662	0.00412297	1	1	0
SLFN12	55106	broad.mit.edu	37	17	33749549	33749549	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:33749549G>C	ENST00000394562.1	-	4	1022	c.499C>G	c.(499-501)Ccc>Gcc	p.P167A	SLFN12_ENST00000304905.5_Missense_Mutation_p.P167A|SLFN12_ENST00000452764.3_Missense_Mutation_p.P167A			Q8IYM2	SLN12_HUMAN	schlafen family member 12	167							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAACACAGGGCCTCTTTGCC	0.403000													4	65					0	0	1	0	0
S100A16	140576	broad.mit.edu	37	1	153580093	153580093	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:153580093C>T	ENST00000368704.1	-	3	414	c.229G>A	c.(229-231)Gat>Aat	p.D77N	S100A16_ENST00000368706.4_Missense_Mutation_p.D77N|S100A16_ENST00000368703.2_Missense_Mutation_p.D77N|S100A16_ENST00000368705.2_Missense_Mutation_p.D77N|S100A16_ENST00000474991.1_5'UTR			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	77	EF-hand 2.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGTACTCATCGAAGCTGATG	0.577000													4	52					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37880261	37880261	+	Missense_Mutation	SNP	G	G	C	rs121913468		TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:37880261G>C	ENST00000406381.2	+	21	2725	c.2215G>C	c.(2215-2217)Gac>Cac	p.D739H	ERBB2_ENST00000269571.5_Missense_Mutation_p.D769H|ERBB2_ENST00000584601.1_Missense_Mutation_p.D739H|ERBB2_ENST00000445658.2_Missense_Mutation_p.D493H|ERBB2_ENST00000540147.1_Missense_Mutation_p.D739H|ERBB2_ENST00000541774.1_Missense_Mutation_p.D754H|ERBB2_ENST00000584450.1_Missense_Mutation_p.D769H	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	769	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D769H(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AGAAATCTTAGACGTAAGCCC	0.532000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			3	27					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39176631	39176631	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:39176631C>G	ENST00000301819.6	+	22	3111	c.2934C>G	c.(2932-2934)atC>atG	p.I978M	TTC21A_ENST00000440121.1_Missense_Mutation_p.I929M|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.I977M	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	977							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAGCGGCCATCAATCTTTACC	0.498000													8	131					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50254203	50254203	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:50254203C>G	ENST00000284509.6	-	14	1399	c.1258G>C	c.(1258-1260)Gac>Cac	p.D420H	ATP8B4_ENST00000559829.1_Missense_Mutation_p.D420H	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	420					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGATCCAGGTCATCATGTACT	0.259000													3	39					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26970249	26970249	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:26970249G>T	ENST00000528896.2	-	4	403	c.329C>A	c.(328-330)tCc>tAc	p.S110Y	KIAA0100_ENST00000389003.3_5'UTR|KIAA0100_ENST00000544884.1_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	110						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGCGCTCTGGGAGAATGGGGC	0.493000													8	48					0.000157383	0.000164643	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107600930	107600930	+	Silent	SNP	G	G	A	rs148062825		TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:107600930G>A	ENST00000393561.1	-	16	2530	c.2346C>T	c.(2344-2346)atC>atT	p.I782I	LAMB1_ENST00000222399.6_Silent_p.I758I|LAMB1_ENST00000393560.1_Silent_p.I758I			P07942	LAMB1_HUMAN	laminin, beta 1	758	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTAAAGATGATGTTTCTGC	0.493000													5	61					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7949338	7949338	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr18:7949338G>A	ENST00000332175.8	+	6	1860	c.823G>A	c.(823-825)Gag>Aag	p.E275K	PTPRM_ENST00000400053.4_Missense_Mutation_p.E213K|PTPRM_ENST00000444013.1_Missense_Mutation_p.E62K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E275K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E275K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	275	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AAACTATGCAGAGTTGGTAGT	0.353000													4	63					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180835422	180835422	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:180835422G>C	ENST00000410053.3	-	10	1401	c.1102C>G	c.(1102-1104)Cat>Gat	p.H368D	CWC22_ENST00000295749.6_Missense_Mutation_p.H368D	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	368						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GGGAGCATATGAGTGAATTGA	0.403000													6	23					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165503970	165503970	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:165503970G>C	ENST00000264381.3	-	3	1813	c.1647C>G	c.(1645-1647)ttC>ttG	p.F549L	BCHE_ENST00000540653.1_Missense_Mutation_p.F11L	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	549					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATGATGTCCAGAATCGACATT	0.358000													16	77					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106960894	106960894	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:106960894T>C	ENST00000369701.3	+	16	2371	c.2144T>C	c.(2143-2145)aTg>aCg	p.M715T	SORCS3_ENST00000369699.4_Start_Codon_SNP_p.M1T	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	715						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCTTGTGTCATGGGAGAAAGG	0.468000													7	59					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367267	107367267	+	Missense_Mutation	SNP	G	G	C	rs148835250	byFrequency	TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:107367267G>C	ENST00000542196.1	-	1	684	c.642C>G	c.(640-642)atC>atG	p.I214M		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AAGAGACAATGATTAATAACA	0.433000													6	72					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41556657	41556657	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:41556657G>T	ENST00000263253.7	+	20	4821	c.3602G>T	c.(3601-3603)tGt>tTt	p.C1201F		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1201					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TATCATTTCTGTGAGAAGTGT	0.488000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				5	43					0.000602214	0.000628832	1	1	0
DAB2	1601	broad.mit.edu	37	5	39377348	39377348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:39377348C>T	ENST00000320816.6	-	12	2008	c.1541G>A	c.(1540-1542)tGg>tAg	p.W514*	DAB2_ENST00000339788.6_Nonsense_Mutation_p.W296*|DAB2_ENST00000545653.1_Nonsense_Mutation_p.W493*|DAB2_ENST00000509337.1_Nonsense_Mutation_p.W493*	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	514					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TGCTGTGTTCCATGGTCCTGC	0.463000													5	92					0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4859626	4859626	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:4859626G>A	ENST00000221957.4	-	4	500	c.324C>T	c.(322-324)ccC>ccT	p.P108P	PLIN3_ENST00000585479.1_Silent_p.P108P|PLIN3_ENST00000592528.1_Silent_p.P108P	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	108					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GCTGCAGGATGGGGAGGTTCT	0.577000													12	55					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200137114	200137114	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:200137114C>T	ENST00000443023.1	-	10	3310	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	SATB2_ENST00000457245.1_Silent_p.G674G|SATB2_ENST00000417098.1_Silent_p.G674G|SATB2_ENST00000428695.1_Silent_p.G556G|SATB2_ENST00000260926.5_Silent_p.G674G			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	674						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTTCAGCTTCCCGTGGTGCT	0.577000													8	81					0	0	1	0	0
AGK	55750	broad.mit.edu	37	7	141352723	141352723	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:141352723G>A	ENST00000355413.4	+	16	1528	c.1268G>A	c.(1267-1269)tGa>tAa	p.*423*	RP5-894A10.2_ENST00000467537.1_RNA|AGK_ENST00000473247.1_Silent_p.*395*	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	0					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CCCACCCAGTGAGCAGCAGAA	0.552000													9	44					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14863385	14863385	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:14863385G>C	ENST00000398334.1	-	8	1787	c.1520C>G	c.(1519-1521)tCa>tGa	p.S507*	FANCB_ENST00000324138.3_Nonsense_Mutation_p.S507*	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	507					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CATTAACAATGATAAAGTCAC	0.348000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	105					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919792	48919792	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:48919792C>G	ENST00000310194.1	+	1	378	c.378C>G	c.(376-378)atC>atG	p.I126M	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						ATGCTGCCATCTGCCGCCCAC	0.547000													10	67					0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183858361	183858361	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:183858361G>C	ENST00000273783.3	+	7	1121	c.999G>C	c.(997-999)caG>caC	p.Q333H	EIF2B5_ENST00000444495.1_Missense_Mutation_p.Q333H	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	333					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCACCACCCAGAGCTGCACTC	0.587000													29	136					0	0	1	0	0
ARCN1	372	broad.mit.edu	37	11	118455317	118455317	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:118455317C>A	ENST00000359415.4	+	6	1064	c.899C>A	c.(898-900)tCt>tAt	p.S300Y	ARCN1_ENST00000392859.3_Missense_Mutation_p.S171Y|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000264028.4_Missense_Mutation_p.S259Y			P48444	COPD_HUMAN	archain 1	259	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAGCGTACTTCTGAAGCAACC	0.363000													8	57					0.00307968	0.00317487	1	1	0
EZR	7430	broad.mit.edu	37	6	159204617	159204617	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:159204617C>G	ENST00000367075.3	-	7	801	c.633G>C	c.(631-633)aaG>aaC	p.K211N	EZR_ENST00000392177.4_Missense_Mutation_p.K179N|EZR_ENST00000337147.7_Missense_Mutation_p.K211N|EZR_ENST00000476189.1_5'UTR	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	211	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CTGTTCCTTTCTTGTTTTTTA	0.378000			T	ROS1	NSCLC								4	56					0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22569871	22569871	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:22569871G>A	ENST00000510882.2	+	1	77	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	HDGFL1_ENST00000230012.3_Missense_Mutation_p.A23T			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	23	PWWP.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					AAAGGGCTATGCCCACTGGCC	0.617000													6	40					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179743976	179743976	+	Silent	SNP	A	A	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:179743976A>G	ENST00000253778.8	-	11	1210	c.1041T>C	c.(1039-1041)ttT>ttC	p.F347F	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	347					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGTTGGTTTCAAAATTCACCC	0.478000													13	105					0	0	1	0	0
SYN1	6853	broad.mit.edu	37	X	47466407	47466407	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:47466407G>T	ENST00000295987.7	-	3	588	c.464C>A	c.(463-465)gCc>gAc	p.A155D	SYN1_ENST00000340666.4_Missense_Mutation_p.A155D	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	155	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity	p.A155D(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						ATTGGCATGGGCCACAAGGTT	0.473000													3	33					6.4e-05	6.74498e-05	1	1	0
CR1	1378	broad.mit.edu	37	1	207696956	207696956	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:207696956G>A	ENST00000367049.4	+	5	488	c.488G>A	c.(487-489)aGa>aAa	p.R163K	CR1_ENST00000367052.1_Splice_Site_p.R163K|CR1_ENST00000367053.1_Splice_Site_p.R163K|CR1_ENST00000400960.2_Splice_Site_p.R163K|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	163	Sushi 2.				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						CTTTTTCCAGGAATTCCTTGT	0.383000													5	21					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708037	29708037	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:29708037G>A	ENST00000471961.1	+	5	2644	c.1596G>A	c.(1594-1596)ttG>ttA	p.L532L	GAS2L1_ENST00000407854.1_Silent_p.L532L|GAS2L1_ENST00000403764.1_Silent_p.L532L|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000407647.2_Silent_p.L532L			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	0					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCGGGCCCTTGAGGCTGTTGC	0.667000													26	156					0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102808516	102808516	+	Nonstop_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr14:102808516G>C	ENST00000262236.5	+	8	2797	c.2442G>C	c.(2440-2442)taG>taC	p.*814Y	ZNF839_ENST00000442396.2_Nonstop_Mutation_p.*928Y|ZNF839_ENST00000558850.1_Nonstop_Mutation_p.*812Y|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000559185.1_Nonstop_Mutation_p.*812Y	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	0						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCCCGCTAGAAGGAGTTCC	0.547000													6	69					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214795555	214795555	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:214795555G>A	ENST00000366955.3	+	7	1167	c.999G>A	c.(997-999)gaG>gaA	p.E333E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	333	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGAAAAAGAGAAAGTTTTGA	0.388000													4	36					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100904721	100904721	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:100904721C>G	ENST00000548884.1	+	4	786	c.245C>G	c.(244-246)tCt>tGt	p.S82C	NR1H4_ENST00000188403.7_Missense_Mutation_p.S92C|NR1H4_ENST00000549996.1_Missense_Mutation_p.S82C|NR1H4_ENST00000551379.1_Missense_Mutation_p.S92C|NR1H4_ENST00000392986.3_Missense_Mutation_p.S82C	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	92					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GAGTGGTACTCTCCTGGAATA	0.498000													4	51					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373284	86373284	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:86373284T>A	ENST00000604798.1	-	8	2424	c.1220A>T	c.(1219-1221)cAt>cTt	p.H407L	MGAT4C_ENST00000393205.2_Missense_Mutation_p.H436L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.H407L|MGAT4C_ENST00000549405.2_Missense_Mutation_p.H407L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.H407L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.H407L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	407					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGCTCCATGATGCAAAATATC	0.318000													11	63					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938462	76938462	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:76938462C>G	ENST00000373344.5	-	9	2500	c.2286G>C	c.(2284-2286)aaG>aaC	p.K762N	ATRX_ENST00000395603.3_Missense_Mutation_p.K724N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	762					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CATACAAAGTCTTATGGTTTG	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						13	340					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94482628	94482628	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:94482628C>T	ENST00000377047.4	+	3	1156	c.541C>T	c.(541-543)Cac>Tac	p.H181Y	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	181						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCCTCAGTATCACTTCAGTGA	0.493000													8	48					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30320260	30320260	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:30320260G>A	ENST00000322652.5	+	11	1430		c.e11-1		SUZ12_ENST00000580398.1_Splice_Site	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit						negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TATGTTTTCAGCTGTTAAAGA	0.259000			T	JAZF1	endometrial stromal tumours								4	54					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627928	170627928	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:170627928G>A	ENST00000476287.1	+	2	1558	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	FAM120B_ENST00000537664.1_Missense_Mutation_p.E507K|FAM120B_ENST00000540480.1_Missense_Mutation_p.E496K|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	484					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ATCCAGGCAAGAAGTTTTAAT	0.448000													4	125					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269801	53269801	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:53269801C>G	ENST00000338230.3	-	3	1475	c.1208G>C	c.(1207-1209)aGa>aCa	p.R403T		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTAGTATGTCTTACCAGGTG	0.378000													23	137					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994570	994570	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:994570C>G	ENST00000537687.1	+	19	6023	c.5380C>G	c.(5380-5382)Cat>Gat	p.H1794D	WNK1_ENST00000315939.6_Missense_Mutation_p.H1534D|WNK1_ENST00000530271.2_Missense_Mutation_p.H2032D|WNK1_ENST00000535572.1_Missense_Mutation_p.H1287D|WNK1_ENST00000340908.4_Missense_Mutation_p.H1127D	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1534					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TAAGACATCTCATAGCAGTAC	0.483000													41	286					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154878220	154878220	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:154878220C>T	ENST00000460393.1	+	17	1763	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L	MME_ENST00000492661.1_Missense_Mutation_p.S548L|MME_ENST00000493237.1_Missense_Mutation_p.S548L|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.S548L|MME_ENST00000360490.2_Missense_Mutation_p.S548L	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	548					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTTACTCTTCAGGAAGAAAT	0.343000													9	138					0	0	1	0	0
MAFF	23764	broad.mit.edu	37	22	38610522	38610522	+	Silent	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:38610522C>G	ENST00000338483.2	+	3	494	c.132C>G	c.(130-132)ctC>ctG	p.L44L	MAFF_ENST00000426621.2_Silent_p.L44L|MAFF_ENST00000407965.1_Silent_p.L44L|MAFF_ENST00000538999.1_Silent_p.L15L|MAFF_ENST00000538320.1_Silent_p.L44L			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	44					blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)	3	Melanoma(58;0.045)					TGCGCGGGCTCTCCGCCGAGG	0.682000													7	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431833	179431833	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:179431833C>T	ENST00000589042.1	-	326	79250	c.79026G>A	c.(79024-79026)gtG>gtA	p.V26342V	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.V24701V|TTN_ENST00000342175.6_Silent_p.V17469V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.V17277V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V17402V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.V23774V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24701	Ig-like 127.						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)			GAGAATTGGTCACAACTTCTG	0.418000													8	100					0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44500873	44500873	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:44500873C>G	ENST00000270014.2	+	5	992	c.864C>G	c.(862-864)ttC>ttG	p.F288L	ZNF155_ENST00000407951.2_Missense_Mutation_p.F299L|ZNF155_ENST00000590615.1_Missense_Mutation_p.F288L	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AGAAACCATTCAAATGTGATA	0.408000													8	96					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44856860	44856860	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:44856860C>A	ENST00000261866.7	-	39	7052	c.7036G>T	c.(7036-7038)Gat>Tat	p.D2346Y	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.D2233Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2346					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCAGCCCAATCTGGAACAAAA	0.368000													6	52					8.12818e-05	8.53459e-05	1	1	0
ST13	6767	broad.mit.edu	37	22	41223114	41223114	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:41223114G>A	ENST00000216218.3	-	11	1448	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	323	STI1.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						ATGGCTGCAAGAACCTCTGGA	0.448000													6	86					0	0	1	0	0
APOO	79135	broad.mit.edu	37	X	23897036	23897036	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:23897036C>T	ENST00000379226.4	-	3	464	c.233G>A	c.(232-234)tGt>tAt	p.C78Y	APOO_ENST00000379220.3_Missense_Mutation_p.C78Y	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	78					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						TTGTACCTGACACCAGGTTGT	0.458000													10	157					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724691	49724691	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:49724691C>G	ENST00000551245.1	+	13	2174	c.2063C>G	c.(2062-2064)tCa>tGa	p.S688*	TROAP_ENST00000547923.1_Nonsense_Mutation_p.S367*|TROAP_ENST00000257909.3_Nonsense_Mutation_p.S688*			Q12815	TROAP_HUMAN	trophinin associated protein	688					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCTATCTGCTCACTCCAGTCT	0.592000													6	129					0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29311738	29311738	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:29311738C>T	ENST00000328381.5	+	2	1349	c.476C>T	c.(475-477)tCa>tTa	p.S159L	RNF135_ENST00000443677.2_Intron|RNF135_ENST00000535306.2_Missense_Mutation_p.S159L|RNF135_ENST00000324689.4_Missense_Mutation_p.S159L	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	159					innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AGGCCCCTATCAGAATCTGGA	0.512000													6	68					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536578	27536578	+	RNA	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:27536578C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CCCTCCTGATCCTCTGCTTTC	0.522000													6	38					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49431819	49431819	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:49431819G>T	ENST00000301067.7	-	34	9319	c.9320C>A	c.(9319-9321)tCt>tAt	p.S3107Y		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCGGGGTTCAGAGGCATCAGC	0.647000													3	15					0.004672	0.00479028	1	1	0
SLX4	84464	broad.mit.edu	37	16	3640901	3640901	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:3640901C>G	ENST00000294008.3	-	12	3378	c.2738G>C	c.(2737-2739)aGa>aCa	p.R913T		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	913	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGCCTCATCTCTTCCTGGCTC	0.652000								Direct reversal of damage					10	103					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10116277	10116277	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:10116277G>C	ENST00000287647.3	+	29	2872	c.2779G>C	c.(2779-2781)Gag>Cag	p.E927Q	FANCD2_ENST00000383806.1_Missense_Mutation_p.E927Q|FANCD2_ENST00000383807.1_Missense_Mutation_p.E927Q|FANCD2_ENST00000419585.1_Missense_Mutation_p.E927Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	927					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)		TTTTTTCCGAGAGCTGGACAT	0.398000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	71					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464790	141464790	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:141464790G>A	ENST00000247879.2	+	1	894	c.832G>A	c.(832-834)Gct>Act	p.A278T	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	278					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GTTTTATCCTGCTGGCCACTC	0.408000													13	109					0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37416218	37416218	+	Missense_Mutation	SNP	C	C	T	rs146928359	by1000genomes	TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr21:37416218C>T	ENST00000399215.1	-	6	2135	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399208.2_Missense_Mutation_p.E255K|SETD4_ENST00000399205.1_Missense_Mutation_p.E231K|SETD4_ENST00000399207.1_Missense_Mutation_p.E255K|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399201.1_Missense_Mutation_p.E231K|SETD4_ENST00000332131.4_Missense_Mutation_p.E255K|SETD4_ENST00000399212.1_Missense_Mutation_p.E231K			Q9NVD3	SETD4_HUMAN	SET domain containing 4	255	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GTTCTAATTTCGTAAGAATGA	0.368000													3	42					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298662	107298662	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:107298662G>C	ENST00000374781.2	-	1	475	c.433C>G	c.(433-435)Ctt>Gtt	p.L145V		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						ATCATGCCAAGAAGCAGACAT	0.453000													22	121					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41009477	41009477	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:41009477C>T	ENST00000399564.4	-	32	3775	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E664K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCTGGCTTTTCAGCCAGCGCC	0.498000													6	117					0	0	1	0	0
KLRF1	51348	broad.mit.edu	37	12	9980153	9980153	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:9980153G>C	ENST00000279544.3	+	1	77	c.13G>C	c.(13-15)Gaa>Caa	p.E5Q	KLRF1_ENST00000324214.4_Missense_Mutation_p.E5Q|KLRF1_ENST00000537723.1_Missense_Mutation_p.E5Q|KLRF1_ENST00000354855.3_Missense_Mutation_p.E5Q	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	5					cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GCAAGATGAAGAAAGATACAT	0.299000													5	52					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215990420	215990420	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:215990420C>G	ENST00000366943.2	-	48	9875	c.9489G>C	c.(9487-9489)caG>caC	p.Q3163H	USH2A_ENST00000307340.3_Missense_Mutation_p.Q3163H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3163	Fibronectin type-III 18.				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)		GCTCATCACTCTGATCCTGCA	0.423000										HNSCC(13;0.011)			6	101					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881235	69881235	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:69881235C>T	ENST00000358913.5	+	2	528	c.40C>T	c.(40-42)Cag>Tag	p.Q14*	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Nonsense_Mutation_p.Q14*|MYPN_ENST00000540630.1_Nonsense_Mutation_p.Q14*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	14	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCCATATCTCAGCTTCTAAG	0.438000													5	74					0	0	1	0	0
C1orf86	199990	broad.mit.edu	37	1	2121162	2121162	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:2121162C>T	ENST00000378545.3	-	5	837	c.838G>A	c.(838-840)Gac>Aac	p.D280N	C1orf86_ENST00000378546.4_Missense_Mutation_p.D177N|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR	NM_001282670.1	NP_001269599.1	Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	177										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CACGTCACGTCTTCTGTGCTT	0.701000													3	21					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52901090	52901090	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:52901090T>C	ENST00000261844.7	-	6	2173	c.2021A>G	c.(2020-2022)cAg>cGg	p.Q674R	FAM214A_ENST00000546305.2_Missense_Mutation_p.Q681R	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	674																	ATCATCAGACTGAAGATTGCC	0.274000													4	62					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3390034	3390034	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:3390034C>T	ENST00000378378.4	+	8	1658	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.S130F|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.S130F|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.S122F	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	418	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCCATGCTCTCCTTCCTGATC	0.667000													11	67					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113533	18113533	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:18113533G>A	ENST00000403915.1	+	3	1709	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	KCNS3_ENST00000304101.4_Missense_Mutation_p.D420N|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	420					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAAGGACATTGATGTGGACCA	0.468000													10	70					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950600	38950600	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:38950600C>T	ENST00000357387.3	-	31	3380	c.3350G>A	c.(3349-3351)gGa>gAa	p.G1117E	RICTOR_ENST00000296782.5_Missense_Mutation_p.G1117E	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1117					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TAATTTCCCTCCTTTTGGATC	0.368000													11	169					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34324067	34324067	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr18:34324067C>G	ENST00000257209.4	+	20	3549	c.3427C>G	c.(3427-3429)Ctc>Gtc	p.L1143V	FHOD3_ENST00000359247.4_Missense_Mutation_p.L1126V|FHOD3_ENST00000590592.1_Missense_Mutation_p.L1318V|FHOD3_ENST00000591635.1_Missense_Mutation_p.L339V|FHOD3_ENST00000592128.1_Missense_Mutation_p.L122V|FHOD3_ENST00000445677.1_Missense_Mutation_p.L1105V	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1126	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCAGTCGCTTCTCCACCATGT	0.493000													9	89					0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186508035	186508035	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:186508035C>G	ENST00000392481.2	-	10	1173	c.892G>C	c.(892-894)Gat>Cat	p.D298H	RFC4_ENST00000433496.1_Missense_Mutation_p.D271H|RFC4_ENST00000296273.2_Missense_Mutation_p.D298H	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	298					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TGACCCTCATCTATTAAATCC	0.338000													12	71					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997349	82997349	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:82997349C>G	ENST00000307792.3	-	17	2348	c.1881G>C	c.(1879-1881)aaG>aaC	p.K627N	SEMA3E_ENST00000427262.1_Missense_Mutation_p.K567N	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	627	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGTCATCTGTCTTCACCTGCA	0.388000													9	53					0	0	1	0	0
TNFSF13	8741	broad.mit.edu	37	17	7462455	7462455	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:7462455G>A	ENST00000349228.4	+	1	663	c.99G>A	c.(97-99)ttG>ttA	p.L33L	TNFSF13_ENST00000483039.1_Intron|TNFSF13_ENST00000380535.4_Silent_p.L33L|TNFSF13_ENST00000396545.4_Silent_p.L33L|TNFSF12_ENST00000557233.1_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000396542.1_Silent_p.L16L|TNFSF13_ENST00000338784.4_Silent_p.L33L	NM_172087.2	NP_742084.1			tumor necrosis factor (ligand) superfamily, member 13											large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				CCCTCTGGTTGAGTTGGGGGG	0.632000													3	21					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045614	7045614	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:7045614C>G	ENST00000356654.4	+	5	1421	c.1184C>G	c.(1183-1185)tCt>tGt	p.S395C	ATN1_ENST00000396684.2_Missense_Mutation_p.S395C	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	395	Poly-Ser.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						tcctcttcctctgcctccccc	0.572000													5	30					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225180	21225180	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:21225180G>C	ENST00000233242.1	-	29	13241	c.13114C>G	c.(13114-13116)Caa>Gaa	p.Q4372E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4372					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTAACTCTTGAGAAGCTTCC	0.328000													3	42					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993637	140993637	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:140993637G>T	ENST00000285879.4	+	4	733	c.447G>T	c.(445-447)gaG>gaT	p.E149D	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	149							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCCCCTGAGAGTACTCAAA	0.507000										HNSCC(15;0.026)			6	156					0.00198382	0.00205635	1	1	0
TRGV2	6974	broad.mit.edu	37	7	38402745	38402745	+	RNA	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:38402745C>G	ENST00000426402.2	-	0	263																											TGACTTCGTTCTCCCTTCCAA	0.438000													9	60					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34935849	34935849	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:34935849G>T	ENST00000382021.2	+	3	453	c.226G>T	c.(226-228)Ggg>Tgg	p.G76W	DNAJC21_ENST00000303525.7_Missense_Mutation_p.G76W|DNAJC21_ENST00000342382.4_Missense_Mutation_p.G76W	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	76					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACTTAAAGGTGGGTTTGATGG	0.353000													28	64					1.7881e-09	1.92382e-09	1	1	0
ATF4	468	broad.mit.edu	37	22	39917628	39917628	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:39917628G>A	ENST00000337304.2	+	1	1060	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	ATF4_ENST00000404241.2_Missense_Mutation_p.E60K|ATF4_ENST00000396680.1_Missense_Mutation_p.E60K	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	60					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					GGGCTCCTCCGAATGGCTGGC	0.577000													4	62					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	756604	756604	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr18:756604G>C	ENST00000584307.1	-	2	394	c.224C>G	c.(223-225)tCt>tGt	p.S75C	YES1_ENST00000577961.1_Missense_Mutation_p.S80C|YES1_ENST00000314574.4_Missense_Mutation_p.S75C|YES1_ENST00000577611.1_5'UTR			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	75					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	AAATGAGGAAGATGCACCTCC	0.438000													7	91					0	0	1	0	0
SIAH1	6477	broad.mit.edu	37	16	48396342	48396342	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:48396342C>T	ENST00000356721.3	-	2	515		c.e2-1		SIAH1_ENST00000394725.2_Splice_Site|SIAH1_ENST00000380006.2_5'UTR	NM_001006610.1	NP_001006611.1	Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1						axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CGGCTCATTTCTGAAATAAAT	0.408000													6	51					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41551076	41551076	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:41551076C>T	ENST00000263253.7	+	17	4439	c.3220C>T	c.(3220-3222)Ccc>Tcc	p.P1074S		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1074	Bromo.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAATCCCTTCCCTTTCGTCA	0.383000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				13	250					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163009	72163009	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:72163009C>T	ENST00000537465.1	-	13	2079	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E491K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E636K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	641										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCTTCAAGTTCTCCCTCCATC	0.498000													11	217					0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2257260	2257260	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:2257260G>A	ENST00000569417.1	+	6	841	c.487G>A	c.(487-489)Gag>Aag	p.E163K	MLST8_ENST00000301724.10_Missense_Mutation_p.E163K|MLST8_ENST00000564088.1_Missense_Mutation_p.E163K|MLST8_ENST00000565250.1_Missense_Mutation_p.E163K|MLST8_ENST00000382450.4_Missense_Mutation_p.E162K|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000397124.1_Missense_Mutation_p.E163K|MLST8_ENST00000301725.7_Missense_Mutation_p.E182K	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	163					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						AGACCACAACGAGCAGCTGAT	0.622000													5	107					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130898770	130898770	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:130898770C>T	ENST00000392984.3	-	3	1693	c.950G>A	c.(949-951)aGc>aAc	p.S317N	CCDC74B_ENST00000310463.6_Missense_Mutation_p.S215N|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S149N|CCDC74B_ENST00000409128.1_Missense_Mutation_p.S191N			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	215										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GTCCAGCTTGCTGTTGTGAAG	0.602000													6	135					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31613289	31613289	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:31613289C>A	ENST00000389082.5	-	4	1195	c.931G>T	c.(931-933)Gaa>Taa	p.E311*	DENND5B_ENST00000306833.6_Nonsense_Mutation_p.E346*|DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000354285.4_Nonsense_Mutation_p.E333*|DENND5B_ENST00000536562.1_Nonsense_Mutation_p.E346*	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	311	DENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTGATGCCTTCTGCCACAGTC	0.418000													3	28					0.115264	0.116705	1	1	0
RHOU	58480	broad.mit.edu	37	1	228879212	228879212	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:228879212G>C	ENST00000366691.3	+	3	1168	c.502G>C	c.(502-504)Gat>Cat	p.D168H		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	168					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TCTCAGAGAAGATGTCAAAGT	0.517000													12	77					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7647698	7647698	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:7647698C>T	ENST00000359156.4	-	6	1601	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	CD163_ENST00000541972.1_Missense_Mutation_p.E455K|CD163_ENST00000396620.3_Missense_Mutation_p.E467K|CD163_ENST00000432237.2_Missense_Mutation_p.E467K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	467	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATTTTGGCTTCTTCATAGTGA	0.388000													15	138					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887380	12887380	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:12887380C>T	ENST00000535591.1	-	3	672	c.477G>A	c.(475-477)ctG>ctA	p.L159L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	159										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCACCATTTTCAGGATGCTTC	0.478000													26	315					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152322420	152322420	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:152322420C>G	ENST00000243326.5	+	29	6869	c.6386C>G	c.(6385-6387)tCt>tGt	p.S2129C	RIF1_ENST00000428287.2_Missense_Mutation_p.S2129C|RIF1_ENST00000453091.2_Missense_Mutation_p.S2129C|RIF1_ENST00000444746.2_Missense_Mutation_p.S2129C|RIF1_ENST00000430328.2_Missense_Mutation_p.S2129C			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)		Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGTCTGGCATCTGGAACAGCT	0.378000													6	75					0	0	1	0	0
VHL	7428	broad.mit.edu	37	3	10183725	10183725	+	Missense_Mutation	SNP	C	C	T	rs5030826		TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:10183725C>T	ENST00000256474.2	+	1	1034	c.194C>T	c.(193-195)tCg>tTg	p.S65L	VHL_ENST00000345392.2_Missense_Mutation_p.S65L	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma).|S -> L (in VHLD; type I).|S -> W (in VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				3	11					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56544986	56544986	+	Silent	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:56544986C>G	ENST00000390649.3	+	9	2526	c.2526C>G	c.(2524-2526)ctC>ctG	p.L842L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	842						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TAAGATCCCTCAACTTGGGAG	0.502000													4	121					0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96852603	96852603	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:96852603C>T	ENST00000337288.5	-	8	1361	c.978G>A	c.(976-978)aaG>aaA	p.K326K	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	326	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TCTCCATATTCTTGGCTTTCA	0.488000													5	40					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100667095	100667095	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:100667095C>G	ENST00000375119.3	-	5	1322	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	416					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CTCAGCACCTCTGCAAAGCCA	0.537000													8	66					0	0	1	0	0
LTBR	4055	broad.mit.edu	37	12	6497984	6497984	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:6497984G>A	ENST00000228918.4	+	8	1120	c.794G>A	c.(793-795)cGt>cAt	p.R265H	LTBR_ENST00000541102.1_Missense_Mutation_p.R122H|LTBR_ENST00000539925.1_Missense_Mutation_p.R246H	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	265					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CTCAAGAGGCGTCCGCAGGTA	0.577000													6	63					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617893	37617893	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr21:37617893C>T	ENST00000399151.3	+	19	3700	c.3615C>T	c.(3613-3615)ctC>ctT	p.L1205L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1205					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCAGGCCCTCACCACATCCA	0.627000													5	31					0	0	1	0	0
HSPB8	26353	broad.mit.edu	37	12	119631570	119631570	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:119631570C>T	ENST00000281938.2	+	3	1169	c.498C>T	c.(496-498)atC>atT	p.I166I	HSPB8_ENST00000542496.1_3'UTR	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	166					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTGATCATCGAAGCTCCCC	0.498000													4	63					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14209824	14209824	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:14209824G>C	ENST00000285021.7	-	4	683	c.469C>G	c.(469-471)Ctt>Gtt	p.L157V	XPC_ENST00000449060.2_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	157	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGGCAGAAGAGATCGAGAG	0.443000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	32					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328674	80328674	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr4:80328674C>T	ENST00000358842.3	-	1	698	c.681G>A	c.(679-681)atG>atA	p.M227I		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	227					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GAAGAAGGTCCATTGGAATTT	0.398000													17	84					0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7481193	7481193	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:7481193C>A	ENST00000293831.8	+	9	971	c.955C>A	c.(955-957)Cgt>Agt	p.R319S	EIF4A1_ENST00000582746.1_Missense_Mutation_p.R319S|EIF4A1_ENST00000577269.1_Missense_Mutation_p.R319S|EIF4A1_ENST00000581808.1_3'UTR|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	319	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GAGGGAGTTTCGTTCTGGCTC	0.498000													4	47					0.00909568	0.00929234	1	1	0
KNTC1	9735	broad.mit.edu	37	12	123061534	123061534	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:123061534G>C	ENST00000333479.7	+	30	2856	c.2679G>C	c.(2677-2679)gaG>gaC	p.E893D	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	893					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTGATGATGAGATCTACAGTC	0.348000													3	14					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58491487	58491487	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:58491487G>C	ENST00000341164.4	-	7	1181	c.561C>G	c.(559-561)caC>caG	p.H187Q	ZNF606_ENST00000536132.1_Missense_Mutation_p.H97Q	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TCTGGTTCATGTGGTACATTT	0.428000													7	115					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76072607	76072607	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:76072607C>T	ENST00000393004.2	-	3	524	c.303G>A	c.(301-303)ctG>ctA	p.L101L	RP11-415D17.3_ENST00000588761.1_RNA|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000591821.2_RNA|FILIP1_ENST00000370020.1_Silent_p.L2L|RP11-415D17.3_ENST00000440220.1_RNA|FILIP1_ENST00000237172.7_Silent_p.L101L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	101										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTCTGTCTTCAGCATGTGGA	0.502000													5	93					0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94906420	94906420	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:94906420C>T	ENST00000536441.1	-	10	1814	c.1478G>A	c.(1477-1479)tGa>tAa	p.*493*	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Silent_p.*354*|RP11-712B9.2_ENST00000534864.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	0					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GGTGATACTTCAGGTCAAATG	0.353000													12	78					0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57890695	57890695	+	Missense_Mutation	SNP	C	C	T	rs139520829		TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr8:57890695C>T	ENST00000262644.4	-	3	818	c.560G>A	c.(559-561)cGa>cAa	p.R187Q		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	187						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GACGTACTTTCGAAGATCCTC	0.323000													17	267					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270030	53270030	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:53270030C>G	ENST00000338230.3	-	3	1246	c.979G>C	c.(979-981)Gag>Cag	p.E327Q		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TATGGTTTCTCTCCAGTATGA	0.373000													18	116					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132508361	132508361	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:132508361C>T	ENST00000333577.4	+	25	4947	c.4838C>T	c.(4837-4839)aCa>aTa	p.T1613I	EP400_ENST00000330386.6_Missense_Mutation_p.T1496I|EP400_ENST00000389562.2_Missense_Mutation_p.T1576I|EP400_ENST00000389561.2_Missense_Mutation_p.T1577I|EP400_ENST00000332482.4_Missense_Mutation_p.T1540I			Q96L91	EP400_HUMAN	E1A binding protein p400	1613					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCATCCATCACAGGACCACAG	0.527000													5	59					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35065378	35065378	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:35065378C>G	ENST00000358901.6	-	5	1341	c.446G>C	c.(445-447)gGa>gCa	p.G149A		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	149					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAAAATGTCTCCTGCGAGAGC	0.468000													7	25					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536588	27536588	+	RNA	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:27536588C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CCTCTGCTTTCCACCTCTTTG	0.532000													5	36					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148878	129148878	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:129148878C>G	ENST00000540052.1	+	3	2174	c.2130C>G	c.(2128-2130)atC>atG	p.I710M	BCORL1_ENST00000218147.7_Missense_Mutation_p.I710M|BCORL1_ENST00000303743.5_Missense_Mutation_p.I710M|BCORL1_ENST00000359304.2_Missense_Mutation_p.I710M	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	710					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTGCACTGATCAGCACCATTC	0.612000													6	57					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15267491	15267491	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:15267491G>A	ENST00000379554.3	+	13	1691	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	INSC_ENST00000530161.1_Missense_Mutation_p.E502K|INSC_ENST00000525218.1_Missense_Mutation_p.E460K|INSC_ENST00000528567.1_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.E502K|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.E460K	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	549					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGTCTGCCCTGAAGGCCTCCA	0.542000													7	67					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28561342	28561342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:28561342C>T	ENST00000342045.2	+	13	1255	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	BRE_ENST00000379624.1_Nonsense_Mutation_p.Q372*|BRE_ENST00000361704.2_3'UTR|BRE_ENST00000379632.2_3'UTR|BRE_ENST00000344773.2_3'UTR	NM_199194.2	NP_954664.1	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	372					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CTTTGTCCCTCAGTTCCAGGA	0.478000													7	141					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49037866	49037866	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:49037866G>C	ENST00000267163.4	+	21	2244		c.e21-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTATTTACTAGATTATGATGT	0.289000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	72					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6637409	6637409	+	Silent	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:6637409C>A	ENST00000315579.5	+	25	4013	c.3214C>A	c.(3214-3216)Cgg>Agg	p.R1072R	NCAPD2_ENST00000545962.1_Silent_p.R1027R	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1072					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCCCATTGTCCGGTCTAACCT	0.532000													8	203					1.12685e-05	1.19425e-05	1	1	0
ZIC2	7546	broad.mit.edu	37	13	100635181	100635181	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:100635181C>T	ENST00000376335.3	+	1	1156	c.863C>T	c.(862-864)tCg>tTg	p.S288L		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	288					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACACACGTCTCGGTGGAGCAC	0.582000													4	76					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120732761	120732761	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:120732761G>C	ENST00000527524.2	+	9	1125	c.838G>C	c.(838-840)Gag>Cag	p.E280Q	GRIK4_ENST00000438375.2_Missense_Mutation_p.E280Q	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	280					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTTCTTCCAAGAGTTTGCCCA	0.532000													26	224					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54037669	54037669	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:54037669G>C	ENST00000338154.6	-	8	1336	c.832C>G	c.(832-834)Ctc>Gtc	p.L278V	PHF8_ENST00000357988.5_Missense_Mutation_p.L314V|PHF8_ENST00000322659.8_Missense_Mutation_p.L278V|PHF8_ENST00000338946.6_Missense_Mutation_p.L278V	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	314	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CACTCAAAGAGAGTCAGATTG	0.448000													13	59					0	0	1	0	0
DHPS	1725	broad.mit.edu	37	19	12792434	12792434	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:12792434G>A	ENST00000210060.7	-	1	282	c.147C>T	c.(145-147)ttC>ttT	p.F49F	DHPS_ENST00000351660.5_Silent_p.F49F	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	49					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	CGGTGGTGCCGAAGGCCTCCA	0.632000													5	46					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140437934	140437934	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:140437934C>T	ENST00000406427.1	-	6	792	c.456G>A	c.(454-456)gtG>gtA	p.V152V	PNPLA7_ENST00000277531.4_Silent_p.V127V	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	127					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GAGAATTCTTCACGTCAAACT	0.607000													8	51					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109104177	109104177	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:109104177C>T	ENST00000309863.6	+	17	4667	c.3953C>T	c.(3952-3954)tCt>tTt	p.S1318F		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1318					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTGTAACCTCTGAATTCGAG	0.358000													9	131					0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146068076	146068076	+	Silent	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr8:146068076C>G	ENST00000528372.1	+	5	1824	c.1584C>G	c.(1582-1584)ctC>ctG	p.L528L	ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Silent_p.L432L|ZNF7_ENST00000446747.2_Silent_p.L539L|ZNF7_ENST00000325241.6_Silent_p.L528L|ZNF7_ENST00000325217.5_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	528					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		ACGAATGCCTCCAATGCGGAA	0.443000													8	72					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578423	7578423	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:7578423C>T	ENST00000420246.2	-	5	639	c.507G>A	c.(505-507)atG>atA	p.M169I	TP53_ENST00000359597.4_Missense_Mutation_p.M169I|TP53_ENST00000445888.2_Missense_Mutation_p.M169I|TP53_ENST00000269305.4_Missense_Mutation_p.M169I|TP53_ENST00000455263.2_Missense_Mutation_p.M169I|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.M169I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	169	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		HM -> LI (in a sporadic cancer; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|MT -> IS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.M169I(8)|p.V157_C176del20(1)|p.H168fs*69(1)|p.T170fs*5(1)|p.P151_V173del23(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.M169_T170insX(1)|p.H168_M169>LI(1)|p.S149fs*72(1)|p.M169fs*12(1)|p.Q165_M169delQSQHM(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)		CAACCTCCGTCATGTGCTGTG	0.652000		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)			12	49					0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20838284	20838284	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:20838284C>G	ENST00000402541.1	-	4	549	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	HS1BP3_ENST00000304031.3_Missense_Mutation_p.E179Q			Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	179					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGGACCCTCTTCTGCCACT	0.572000													3	27					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4929329	4929329	+	RNA	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:4929329C>G	ENST00000592666.1	+	0	825							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)		CCCACAGCACCAAGGAGCGGG	0.657000													11	48					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55433297	55433297	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr14:55433297G>A	ENST00000360586.3	-	18	2271	c.2206C>T	c.(2206-2208)Cac>Tac	p.H736Y	WDHD1_ENST00000421192.1_Missense_Mutation_p.H613Y|WDHD1_ENST00000420358.2_Missense_Mutation_p.H613Y|WDHD1_ENST00000359167.4_Missense_Mutation_p.H254Y	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	736						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AGGTGGTTGTGAAATATAACT	0.308000													3	48					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184863263	184863263	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:184863263C>T	ENST00000367511.3	-	3	457	c.264G>A	c.(262-264)gaG>gaA	p.E88E		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	88					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CAACGTATCTCTCCTTCCACT	0.348000													7	57					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67681209	67681209	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:67681209G>A	ENST00000335894.4	+	12	1563	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	IQCH_ENST00000358767.3_Missense_Mutation_p.M326I|IQCH_ENST00000546225.1_Missense_Mutation_p.M247I|IQCH_ENST00000360277.4_Missense_Mutation_p.M251I	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	499										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCCATCATATGAATGACGAGT	0.403000													4	93					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100779166	100779166	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr8:100779166G>C	ENST00000358544.2	+	40	7401	c.7290G>C	c.(7288-7290)ttG>ttC	p.L2430F	VPS13B_ENST00000357162.2_Missense_Mutation_p.L2405F|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2430					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAATTGTCTTGAACAGCAGTC	0.373000													7	46					0	0	1	0	0
HNMT	3176	broad.mit.edu	37	2	138758531	138758531	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:138758531C>T	ENST00000280097.3	+	3	416	c.234C>T	c.(232-234)taC>taT	p.Y78Y	HNMT_ENST00000410115.1_Silent_p.Y78Y|HNMT_ENST00000485653.1_3'UTR	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	78					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	AGGCTCAATACCCAGGAGTTT	0.393000													6	45					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61574511	61574511	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:61574511C>G	ENST00000263102.6	-	4	816	c.585G>C	c.(583-585)ttG>ttC	p.L195F		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	195	5 X 29 AA tandem repeats.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TCTCCCGTCTCAACTAAAGGA	0.373000			T	RET	NSCLC								8	39					0	0	1	0	0
RRP8	23378	broad.mit.edu	37	11	6621803	6621803	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:6621803C>T	ENST00000254605.6	-	6	1281	c.1164G>A	c.(1162-1164)ctG>ctA	p.L388L	RRP8_ENST00000534343.1_Silent_p.L72L	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	388					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CAGCCACTTTCAGGAGACCCC	0.527000													7	55					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186057884	186057884	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:186057884C>G	ENST00000271588.4	+	63	9953	c.9724C>G	c.(9724-9726)Caa>Gaa	p.Q3242E	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q3242E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3242					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTTTCAATTCAAGGTATGTA	0.323000													8	57					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42606329	42606329	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:42606329C>T	ENST00000359486.3	-	1	5119	c.4983G>A	c.(4981-4983)gtG>gtA	p.V1661V	TCF20_ENST00000335626.4_Silent_p.V1661V	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCCTGCCCCTCACTAATTTGG	0.493000													11	130					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100611193	100611193	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:100611193G>A	ENST00000308731.7	-	15	1576	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	471	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGTGATGATGAAGATGGGGC	0.532000									Agammaglobulinemia, X-linked				4	51					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93558002	93558002	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:93558002C>T	ENST00000394196.4	+	37	5837	c.4769C>T	c.(4768-4770)tCt>tTt	p.S1590F	CHD2_ENST00000557381.1_Missense_Mutation_p.S1590F	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1590					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGCCGGGACTCTCTGATATCT	0.512000													5	90					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74865511	74865511	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:74865511C>G	ENST00000346246.5	+	4	894	c.663C>G	c.(661-663)ttC>ttG	p.F221L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	221	ARID.|Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGAAAGAGTTCCTGGATGACC	0.443000													9	90					0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62748033	62748033	+	RNA	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:62748033C>G	ENST00000400873.3	-	0	2276					NR_026899.1																						ATTCTTCAATCATTATACTAA	0.323000													6	69					0	0	1	0	0
B2M	567	broad.mit.edu	37	15	45003787	45003787	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:45003787C>G	ENST00000558401.1	+	1	113	c.43C>G	c.(43-45)Ctt>Gtt	p.L15V	B2M_ENST00000559916.1_Missense_Mutation_p.L15V|B2M_ENST00000544417.1_Missense_Mutation_p.L15V	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	15					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.L15fs*41(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTACTCTCTCTTTCTGGCCT	0.622000													10	58					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127240323	127240323	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:127240323G>C	ENST00000265825.5	+	6	1586	c.1367G>C	c.(1366-1368)tGt>tCt	p.C456S	FSCN3_ENST00000420086.2_Silent_p.L320L	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	456						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTCAACTTCTGTATCGAGCTT	0.547000													4	50					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985109	140985109	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:140985109C>T	ENST00000298296.1	+	7	1565	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	MAGEC3_ENST00000409007.1_Missense_Mutation_p.S224F|MAGEC3_ENST00000544766.1_Missense_Mutation_p.S224F|MAGEC3_ENST00000443323.2_Missense_Mutation_p.S144F|MAGEC3_ENST00000536088.1_Missense_Mutation_p.S224F	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	522	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GACAACCACTCCTATTTCTTT	0.443000													12	124					0	0	1	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130688174	130688174	+	Silent	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:130688174G>T	ENST00000388747.4	-	8	779	c.735C>A	c.(733-735)ctC>ctA	p.L245L	PIP5KL1_ENST00000300432.3_Silent_p.L42L|PIP5KL1_ENST00000490773.1_Intron	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	245	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CCTGAAAGTTGAGGTCCTTCA	0.612000													6	77					2.0095e-06	2.13368e-06	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102023305	102023305	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:102023305G>T	ENST00000549145.1	+	5	336	c.236G>T	c.(235-237)gGa>gTa	p.G79V	MYBPC1_ENST00000441232.1_Missense_Mutation_p.G66V|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G66V|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G66V|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G40V|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G91V|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G66V|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G53V|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G52V|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G91V|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G66V|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G66V|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G66V|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G54V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	66	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAACCTCAAGGAGGAACAGTG	0.488000													3	39					0.115264	0.116705	1	1	0
TCF7L1	83439	broad.mit.edu	37	2	85533377	85533377	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:85533377G>A	ENST00000282111.3	+	9	1313	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	346					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						AGCCCCACGTGAAGAAGCCTC	0.507000													4	27					0	0	1	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20394628	20394628	+	RNA	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:20394628C>T	ENST00000430523.3	-	0	567					NR_003563.1																						ACTAACTGCTCCCGGAGGTCG	0.567000													4	11					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57569339	57569339	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:57569339G>C	ENST00000524630.1	+	7	1604	c.1091G>C	c.(1090-1092)aGa>aCa	p.R364T	CTNND1_ENST00000399039.4_Missense_Mutation_p.R364T|CTNND1_ENST00000532649.1_Missense_Mutation_p.R310T|CTNND1_ENST00000534579.1_Missense_Mutation_p.R310T|CTNND1_ENST00000531014.1_Missense_Mutation_p.R41T|CTNND1_ENST00000415361.2_Missense_Mutation_p.R263T|CTNND1_ENST00000360682.6_Missense_Mutation_p.R364T|CTNND1_ENST00000530748.1_Missense_Mutation_p.R310T|CTNND1_ENST00000528232.1_Missense_Mutation_p.R263T|CTNND1_ENST00000528621.1_Missense_Mutation_p.R310T|CTNND1_ENST00000529919.1_Missense_Mutation_p.R364T|CTNND1_ENST00000399050.4_Missense_Mutation_p.R364T|CTNND1_ENST00000428599.2_Missense_Mutation_p.R364T|CTNND1_ENST00000526938.1_Missense_Mutation_p.R364T|CTNND1_ENST00000529526.1_Missense_Mutation_p.R310T|CTNND1_ENST00000532787.1_Missense_Mutation_p.R263T|CTNND1_ENST00000361796.4_Missense_Mutation_p.R364T|CTNND1_ENST00000526772.1_Missense_Mutation_p.R41T|CTNND1_ENST00000361391.6_Missense_Mutation_p.R364T|CTNND1_ENST00000527467.1_Missense_Mutation_p.R41T|CTNND1_ENST00000426142.2_Missense_Mutation_p.R263T|CTNND1_ENST00000529873.1_Missense_Mutation_p.R310T|CTNND1_ENST00000533667.1_Missense_Mutation_p.R41T|CTNND1_ENST00000361332.4_Missense_Mutation_p.R364T|CTNND1_ENST00000532463.1_Missense_Mutation_p.R263T|CTNND1_ENST00000358694.6_Missense_Mutation_p.R364T|CTNND1_ENST00000532245.1_Missense_Mutation_p.R263T|CTNND1_ENST00000529986.1_Missense_Mutation_p.R263T|CTNND1_ENST00000526357.1_Missense_Mutation_p.R310T|CTNND1_ENST00000525902.1_Missense_Mutation_p.R41T|CTNND1_ENST00000532844.1_Missense_Mutation_p.R310T|CTNND1_ENST00000530094.1_Missense_Mutation_p.R263T			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	364					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CCTAATTGGAGACAGCCAGAG	0.537000													5	48					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	611697	611697	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:611697G>A	ENST00000264555.5	+	18	4998	c.4870G>A	c.(4870-4872)Gtg>Atg	p.V1624M	PHRF1_ENST00000533464.1_Missense_Mutation_p.V1620M|PHRF1_ENST00000416188.2_Missense_Mutation_p.V1623M|PHRF1_ENST00000413872.2_Missense_Mutation_p.V1622M	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1624							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAAGGCGTACGTGGACAAGTA	0.607000													3	31					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536581	27536581	+	RNA	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:27536581C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCCTGATCCTCTGCTTTCCAC	0.527000													5	38					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81635096	81635096	+	Silent	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:81635096C>A	ENST00000356860.3	-	17	1838	c.1500G>T	c.(1498-1500)ctG>ctT	p.L500L	CACNA2D1_ENST00000356253.5_Silent_p.L500L|CACNA2D1_ENST00000464354.1_5'UTR	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	500	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AACGTGGTGTCAGTCTTTTAA	0.343000													6	78					2.0095e-06	2.13368e-06	1	1	0
C1orf86	199990	broad.mit.edu	37	1	2121165	2121165	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:2121165C>T	ENST00000378545.3	-	5	834	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	C1orf86_ENST00000378546.4_Missense_Mutation_p.E176K|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR	NM_001282670.1	NP_001269599.1	Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	176										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GTCACGTCTTCTGTGCTTTCG	0.701000													3	19					0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113964044	113964044	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:113964044C>T	ENST00000332556.4	+	3	464	c.270C>T	c.(268-270)ctC>ctT	p.L90L	LAMP1_ENST00000397181.3_Silent_p.L90L	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	90	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACCCCAGTCTCGTGATTGCTT	0.453000													5	76					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59191805	59191805	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:59191805C>T	ENST00000380516.2	-	7	1008	c.921G>A	c.(919-921)aaG>aaA	p.K307K	SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	307					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTCTTCCTTCTTACCATCTT	0.458000													6	66					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025132	130025132	+	Silent	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:130025132C>G	ENST00000011292.3	+	8	1083	c.933C>G	c.(931-933)ctC>ctG	p.L311L	CPA1_ENST00000484324.1_Silent_p.L223L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	311					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACTCCCAGCTCCTCATGTATC	0.537000													7	70					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022563	12022563	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:12022563G>A	ENST00000396373.4	+	5	943	c.669G>A	c.(667-669)ccG>ccA	p.P223P		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	223						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GACCCAGGCCGCACCAGGAGA	0.652000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								4	93					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32312605	32312605	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:32312605G>A	ENST00000315285.3	+	2	585	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	SPAST_ENST00000345662.1_Missense_Mutation_p.E154K	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	154	MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAAAGGTATTGAAGAACTGGA	0.318000													8	49					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34710384	34710384	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:34710384G>A	ENST00000544216.3	+	7	947	c.870G>A	c.(868-870)atG>atA	p.M290I	LSM14A_ENST00000540746.2_Missense_Mutation_p.M249I|LSM14A_ENST00000433627.5_Missense_Mutation_p.M290I	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	290	DFDF.				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ATGGGCCAATGAAATTTGAGA	0.433000													10	85					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34191068	34191068	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:34191068G>A	ENST00000373381.4	-	17	2753	c.2577C>T	c.(2575-2577)atC>atT	p.I859I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	819	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTAAACCCCGATCAAGGGCG	0.532000													4	33					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2775823	2775823	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr18:2775823C>T	ENST00000320876.6	+	42	5605	c.5267C>T	c.(5266-5268)aCc>aTc	p.T1756I	SMCHD1_ENST00000261598.8_Missense_Mutation_p.T1756I|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1756					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTCACCCTAACCACTGACGCT	0.453000													10	40					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29706860	29706860	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:29706860G>C	ENST00000471961.1	+	4	1930	c.882G>C	c.(880-882)caG>caC	p.Q294H	GAS2L1_ENST00000407854.1_Missense_Mutation_p.Q294H|GAS2L1_ENST00000403764.1_Missense_Mutation_p.Q294H|GAS2L1_ENST00000406549.3_Missense_Mutation_p.Q294H|GAS2L1_ENST00000360113.2_Intron|GAS2L1_ENST00000341313.6_Missense_Mutation_p.Q294H|GAS2L1_ENST00000407647.2_Missense_Mutation_p.Q294H			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	294					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TTTCTCCACAGAGGGTGTCGC	0.657000													18	106					0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33163013	33163013	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:33163013G>A	ENST00000374820.2	-	10	1049	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	PIGU_ENST00000452740.2_Silent_p.I363I			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	363					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGGAACAGACGATGATGATGC	0.493000													9	32					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	53070731	53070731	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr18:53070731G>T	ENST00000354452.3	-	6	934	c.323C>A	c.(322-324)tCa>tAa	p.S108*	TCF4_ENST00000544241.2_Nonsense_Mutation_p.S38*|TCF4_ENST00000564999.1_Nonsense_Mutation_p.S108*|TCF4_ENST00000564228.1_Nonsense_Mutation_p.S38*|TCF4_ENST00000540999.1_Nonsense_Mutation_p.S84*|TCF4_ENST00000568673.1_Nonsense_Mutation_p.S84*|TCF4_ENST00000537578.1_Nonsense_Mutation_p.S84*|TCF4_ENST00000543082.1_Nonsense_Mutation_p.S66*|TCF4_ENST00000356073.4_Nonsense_Mutation_p.S108*|TCF4_ENST00000567880.1_Nonsense_Mutation_p.S108*|TCF4_ENST00000565018.2_Nonsense_Mutation_p.S108*|TCF4_ENST00000568740.1_Nonsense_Mutation_p.S84*|TCF4_ENST00000564403.2_Nonsense_Mutation_p.S108*|TCF4_ENST00000566279.1_Nonsense_Mutation_p.S108*|TCF4_ENST00000561992.1_5'UTR|TCF4_ENST00000398339.1_Nonsense_Mutation_p.S210*|TCF4_ENST00000566286.1_Nonsense_Mutation_p.S106*	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	108					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGATGAGTATGAGCCCCTTTC	0.408000													13	169					0.000151284	0.000158555	1	1	0
RPL31	6160	broad.mit.edu	37	2	101620654	101620654	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:101620654G>C	ENST00000409711.1	+	2	153	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	RPL31_ENST00000409650.1_Missense_Mutation_p.E48Q|RPL31_ENST00000409028.4_Missense_Mutation_p.E48Q|RPL31_ENST00000409733.1_Missense_Mutation_p.E48Q|RPL31_ENST00000409320.3_Missense_Mutation_p.E48Q|RPL31_ENST00000264258.3_Missense_Mutation_p.E48Q|RPL31_ENST00000409000.1_Missense_Mutation_p.E48Q|RPL31_ENST00000409038.1_Missense_Mutation_p.E48Q			P62899	RL31_HUMAN	ribosomal protein L31	48					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	p.E48fs*18(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						GGCACTCAAAGAGATTCGGAA	0.443000													4	49					0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129483254	129483254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:129483254C>A	ENST00000543953.1	+	4	291	c.242C>A	c.(241-243)tCa>tAa	p.S81*	SLC25A14_ENST00000218197.5_Nonsense_Mutation_p.S116*|SLC25A14_ENST00000361980.5_Nonsense_Mutation_p.S113*|SLC25A14_ENST00000545805.1_Nonsense_Mutation_p.S116*|SLC25A14_ENST00000339231.3_Nonsense_Mutation_p.S113*|SLC25A14_ENST00000467496.1_3'UTR			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	116					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						AGACAAGCATCATATGGCACC	0.338000													6	118					0.00307968	0.00317487	1	1	0
MYF5	4617	broad.mit.edu	37	12	81111303	81111303	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:81111303C>T	ENST00000228644.3	+	1	613	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	154					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CAGAGCTGCTCGGAGCCCACC	0.542000													10	142					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66480128	66480128	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:66480128C>G	ENST00000256447.4	-	3	700	c.543G>C	c.(541-543)caG>caC	p.Q181H		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	181					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TAGCATTATTCTGAAAATCCA	0.408000													5	85					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53703045	53703045	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:53703045C>T	ENST00000209873.4	-	9	996	c.831G>A	c.(829-831)gaG>gaA	p.E277E	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Silent_p.E153E|AAAS_ENST00000394384.3_Silent_p.E244E	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	277					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGACACAGGTCTCTGTTGAGA	0.557000													10	51					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70597012	70597012	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:70597012G>C	ENST00000449580.1	+	5	733	c.682G>C	c.(682-684)Gaa>Caa	p.E228Q	TAF1_ENST00000373790.4_Missense_Mutation_p.E228Q|TAF1_ENST00000423759.1_Missense_Mutation_p.E249Q|TAF1_ENST00000276072.3_Missense_Mutation_p.E249Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	228	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAGTGTCACAGAACTTTTTCC	0.443000													4	82					0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149922735	149922735	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:149922735C>G	ENST00000367411.2	-	7	1141	c.883G>C	c.(883-885)Gaa>Caa	p.E295Q	KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335647.5_Missense_Mutation_p.E295Q|KATNA1_ENST00000335643.8_Missense_Mutation_p.E219Q	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	295					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TTCACCATTTCAAACAGAAGA	0.388000													10	99					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74498226	74498226	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:74498226C>G	ENST00000437994.2	+	22	3023	c.2592C>G	c.(2590-2592)atC>atG	p.I864M	CD109_ENST00000422508.2_Missense_Mutation_p.I787M|CD109_ENST00000287097.5_Missense_Mutation_p.I864M	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	864						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACAATCCATCTTATTAGACT	0.363000													4	27					0	0	1	0	0
ID1	3397	broad.mit.edu	37	20	30193247	30193247	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:30193247G>A	ENST00000376105.3	+	1	156	c.57G>A	c.(55-57)ctG>ctA	p.L19L	ID1_ENST00000376112.3_Silent_p.L19L	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	19					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GCTGCGCGCTGAAGGCCGGCA	0.692000													6	29					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10119795	10119795	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:10119795G>A	ENST00000287647.3	+	30	2983	c.2890G>A	c.(2890-2892)Gag>Aag	p.E964K	FANCD2_ENST00000383806.1_Missense_Mutation_p.E964K|FANCD2_ENST00000383807.1_Missense_Mutation_p.E964K|FANCD2_ENST00000419585.1_Missense_Mutation_p.E964K	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	964					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)		TGGGCCCCCTGAGCTGCTTTT	0.463000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	111					0	0	1	0	0
ADAM10	102	broad.mit.edu	37	15	58936130	58936130	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:58936130G>A	ENST00000260408.3	-	7	1226	c.783C>T	c.(781-783)gaC>gaT	p.D261D	ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	261	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTCCGGAGAAGTCTGTGGTCT	0.323000													5	118					0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12429946	12429946	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:12429946C>G	ENST00000293725.5	-	4	1098	c.893G>C	c.(892-894)aGa>aCa	p.R298T		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGTTTCATGTCTTCGAAGGGA	0.418000													10	142					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	128018999	128018999	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:128018999C>T	ENST00000368679.4	-	2	477	c.168G>A	c.(166-168)gtG>gtA	p.V56V	ADAM12_ENST00000368676.4_Silent_p.V56V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	56					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CGAAGCTCTTCACTGGGATCC	0.473000													5	66					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4304292	4304292	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr4:4304292C>T	ENST00000337872.4	+	3	850	c.729C>T	c.(727-729)ttC>ttT	p.F243F	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Silent_p.F243F	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CTTTTGCTTTCAGCACCTCTA	0.478000													11	74					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658181	142658181	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:142658181C>G	ENST00000355265.2	-	4	708	c.234G>C	c.(232-234)gaG>gaC	p.E78D	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	78					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACACAGATGTCTCACAGGGGC	0.552000													5	34					0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150460159	150460159	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:150460159G>A	ENST00000312960.3	-	2	1271	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	248	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.I248I(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGAGCAGGACGATGGCAAAAA	0.547000													8	52					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40660609	40660609	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:40660609G>C	ENST00000267889.3	+	8	2383	c.2296G>C	c.(2296-2298)Gag>Cag	p.E766Q		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	766					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCGCAGGGCGAGGGCGGCCA	0.701000													5	64					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277080	152277080	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:152277080G>C	ENST00000368799.1	-	3	10317	c.10282C>G	c.(10282-10284)Caa>Gaa	p.Q3428E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3428	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q3428K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCCTCTTGGGACGCTGAG	0.602000									Ichthyosis				10	231					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30433214	30433214	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:30433214G>C	ENST00000375978.3	-	1	206	c.132C>G	c.(130-132)atC>atG	p.I44M		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	44					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGTAGCGGTAGATGCCACTGA	0.607000													4	71					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160242971	160242971	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:160242971G>C	ENST00000392783.2	-	22	3859	c.3364C>G	c.(3364-3366)Caa>Gaa	p.Q1122E	BAZ2B_ENST00000355831.2_Missense_Mutation_p.Q1088E|BAZ2B_ENST00000343439.5_Missense_Mutation_p.Q1022E|BAZ2B_ENST00000392782.1_Missense_Mutation_p.Q1086E|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1122	DDT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AATCCCTCTTGAAGAACACTC	0.428000													7	105					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202700985	202700985	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:202700985G>C	ENST00000367265.3	-	24	5156	c.3992C>G	c.(3991-3993)tCa>tGa	p.S1331*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.S1367*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1331				S -> ST (in Ref. 2; AAD16061).	negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCGTCCAGTTGAGAAGGGGGA	0.413000													5	61					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30205746	30205746	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:30205746G>C	ENST00000261708.4	-	12	1159	c.1022C>G	c.(1021-1023)tCa>tGa	p.S341*	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	341					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CCCACTATTTGACTTCTTAGT	0.403000													9	95					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52775650	52775650	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:52775650G>C	ENST00000216862.3	-	8	1396	c.1003C>G	c.(1003-1005)Cta>Gta	p.L335V	CYP24A1_ENST00000395954.3_Missense_Mutation_p.L193V|CYP24A1_ENST00000395955.3_Missense_Mutation_p.L335V	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	335					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ATCCACATTAGACTGTTTGCT	0.398000													3	89					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7807988	7807988	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:7807988G>A	ENST00000315599.7	-	7	1174	c.1152C>T	c.(1150-1152)tgC>tgT	p.C384C	CD209_ENST00000301357.8_Silent_p.C248C|CD209_ENST00000394161.5_Silent_p.C148C|CD209_ENST00000354397.6_Silent_p.C378C|CD209_ENST00000593660.1_Silent_p.C314C|CD209_ENST00000315591.8_Silent_p.C360C|CD209_ENST00000602261.1_Silent_p.C292C|CD209_ENST00000601951.1_Silent_p.C360C|CD209_ENST00000204801.8_Silent_p.C340C|CD209_ENST00000593821.1_Silent_p.C248C|CD209_ENST00000394173.4_Silent_p.C223C	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	384					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CATCCCTGGAGCAGGAGGCTG	0.522000													24	131					0	0	1	0	0
PRPS1	5631	broad.mit.edu	37	X	106871963	106871963	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:106871963C>T	ENST00000372435.4	+	1	227	c.105C>T	c.(103-105)ttC>ttT	p.F35F	PRPS1_ENST00000543248.1_Silent_p.F35F|PRPS1_ENST00000372428.4_5'UTR|PRPS1_ENST00000372419.3_Silent_p.F35F	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	35					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						CTAAGAAATTCAGCAACCAGG	0.557000													8	60					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912527	23912527	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:23912527G>A	ENST00000382298.3	-	10	6076	c.5488C>T	c.(5488-5490)Ctg>Ttg	p.L1830L	SACS_ENST00000402364.1_Silent_p.L1080L|SACS_ENST00000382292.3_Silent_p.L1830L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1830					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)		GAAAACTTCAGAGCCTCTCCT	0.483000													19	98					0	0	1	0	0
PLA2G1B	5319	broad.mit.edu	37	12	120760105	120760105	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:120760105C>T	ENST00000308366.4	-	4	373	c.338G>A	c.(337-339)tGt>tAt	p.C113Y	PLA2G1B_ENST00000423423.3_Silent_p.V70V|PLA2G1B_ENST00000549767.1_Missense_Mutation_p.C84Y	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	113					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAGGCCTCACACTCTTTGTT	0.468000													9	107					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151209081	151209081	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:151209081G>A	ENST00000367321.3	+	7	1018	c.744G>A	c.(742-744)atG>atA	p.M248I	MTHFD1L_ENST00000367307.4_Missense_Mutation_p.M248I	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	248	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CCATGACAATGAGCATCCAGT	0.433000													7	74					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182780010	182780010	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:182780010C>T	ENST00000431877.2	+	11	1822	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L	SSFA2_ENST00000320370.7_Missense_Mutation_p.S548L|SSFA2_ENST00000428267.2_Missense_Mutation_p.S395L|SSFA2_ENST00000409001.1_Missense_Mutation_p.S548L|SSFA2_ENST00000409136.1_Missense_Mutation_p.S57L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	548						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACAGTTACGTCACTTGGTGAA	0.458000													9	93					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122091483	122091483	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:122091483C>G	ENST00000334010.7	-	14	2657	c.2236G>C	c.(2236-2238)Gag>Cag	p.E746Q	CADPS2_ENST00000412584.2_Missense_Mutation_p.E742Q|CADPS2_ENST00000313070.7_Missense_Mutation_p.E742Q|CADPS2_ENST00000449022.2_Missense_Mutation_p.E745Q	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	745					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.E745Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTTATCTCCTCAAATCTTTCT	0.274000													5	43					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69002501	69002501	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:69002501G>A	ENST00000295381.3	+	2	629	c.210G>A	c.(208-210)ctG>ctA	p.L70L	ARHGAP25_ENST00000467265.1_Silent_p.L70L|ARHGAP25_ENST00000544262.1_Silent_p.L44L|ARHGAP25_ENST00000409202.3_Silent_p.L70L|ARHGAP25_ENST00000409220.1_Silent_p.L63L|ARHGAP25_ENST00000409030.3_Silent_p.L63L|ARHGAP25_ENST00000497079.1_Silent_p.L63L|ARHGAP25_ENST00000456116.2_3'UTR	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	70	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACTTTGTGCTGAGGGCGCAGC	0.592000													4	77					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764608	92764608	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:92764608G>A	ENST00000318238.4	-	5	1893	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S226L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S226L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	226										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATACAAGCTGATGCAAATCG	0.428000													4	121					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34710391	34710391	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:34710391G>C	ENST00000544216.3	+	7	954	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	LSM14A_ENST00000540746.2_Missense_Mutation_p.E252Q|LSM14A_ENST00000433627.5_Missense_Mutation_p.E293Q	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	293	DFDF.				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AATGAAATTTGAGAAAGACTT	0.438000													6	90					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41766891	41766891	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:41766891G>C	ENST00000379483.3	-	1	1811	c.1503C>G	c.(1501-1503)caC>caG	p.H501Q		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	501							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCCACATATTGTGGCTAGGAT	0.413000													3	37					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26749986	26749986	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:26749986C>G	ENST00000381340.3	-	31	4500	c.4084G>C	c.(4084-4086)Gag>Cag	p.E1362Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1362					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CGGTCTCTCTCTGAACACATC	0.448000													7	79					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89882319	89882319	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:89882319C>T	ENST00000389301.3	-	2	185	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	FANCA_ENST00000534992.1_Missense_Mutation_p.R52Q|FANCA_ENST00000563673.1_Missense_Mutation_p.R52Q|FANCA_ENST00000568369.1_Missense_Mutation_p.R52Q|FANCA_ENST00000389302.3_Missense_Mutation_p.R52Q|FANCA_ENST00000543736.1_Missense_Mutation_p.R52Q	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	52					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTGATGGCTTCGCAGGAGGCG	0.522000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	80					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20240607	20240607	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:20240607G>C	ENST00000361479.5	+	10	2130	c.2062G>C	c.(2062-2064)Gaa>Caa	p.E688Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E688Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	688					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACTCGTAATTGAATGTGGAGC	0.433000													5	146					0	0	1	0	0
RPP14	11102	broad.mit.edu	37	3	58302671	58302671	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:58302671C>G	ENST00000445193.3	+	5	680	c.269C>G	c.(268-270)aCc>aGc	p.T90S	RPP14_ENST00000477305.1_3'UTR|RPP14_ENST00000295959.5_Missense_Mutation_p.T90S|RPP14_ENST00000466547.1_Missense_Mutation_p.T90S	NM_001098783.2	NP_001092253.1	O95059	RPP14_HUMAN	ribonuclease P/MRP 14kDa subunit						tRNA processing	nucleus	identical protein binding|ribonuclease P activity|RNA binding			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)		AGCTCTTTGACCCTGTTAGGA	0.393000													6	66					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23890203	23890203	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr14:23890203G>A	ENST00000355349.3	-	26	3462	c.3300C>T	c.(3298-3300)ctC>ctT	p.L1100L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1100					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTGGCTGCCGAGGGCCTGTT	0.587000													3	40					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616046	1616046	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:1616046C>T	ENST00000381580.1	-	4	1028	c.849G>A	c.(847-849)gtG>gtA	p.V283V	RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000303415.3_Silent_p.V316V|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000216927.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	316	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CAGATATGTTCACCAGGAACC	0.542000													7	120					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157740421	157740421	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:157740421C>T	ENST00000361516.3	-	3	136	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	FCRL2_ENST00000368181.4_Missense_Mutation_p.E30K|FCRL2_ENST00000392274.3_Missense_Mutation_p.E30K	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	30	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGTCTCCTTCGAAGACAGAA	0.463000													3	31					0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	846969	846969	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:846969G>A	ENST00000317063.6	+	22	3237	c.3237G>A	c.(3235-3237)ggG>ggA	p.G1079G	CHTF18_ENST00000455171.2_Silent_p.G898G|CHTF18_ENST00000262315.9_Silent_p.G870G			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	870					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				AGGTGGATGGGAGCCCCCCAG	0.642000													6	110					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287597	62287597	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:62287597G>A	ENST00000378024.4	-	5	14566	c.14292C>T	c.(14290-14292)atC>atT	p.I4764I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4764					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGGGTGTTGATGTCCACTT	0.522000													18	217					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049262	9049262	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:9049262G>C	ENST00000397910.4	-	5	32572	c.32369C>G	c.(32368-32370)tCa>tGa	p.S10790*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10792	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAACCGTGATACAGCAGG	0.488000													12	152					0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	914666	914666	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:914666G>C	ENST00000166345.3	+	11	1463	c.1107G>C	c.(1105-1107)ttG>ttC	p.L369F		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	369					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TGTCAAAATTGAGCCTTCTTT	0.408000													62	178					0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55273854	55273854	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr18:55273854G>A	ENST00000256854.5	-	10	1586	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	NARS_ENST00000423481.2_Silent_p.L128L	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	377					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CTACCGGGTTGAGCTCATGCA	0.453000													7	151					0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32734962	32734962	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:32734962G>A	ENST00000427716.2	+	4	585	c.161G>A	c.(160-162)gGa>gAa	p.G54E	FGD4_ENST00000546442.1_5'UTR|FGD4_ENST00000472289.1_Missense_Mutation_p.G54E|FGD4_ENST00000534526.2_Missense_Mutation_p.G191E|FGD4_ENST00000525053.1_Missense_Mutation_p.G166E|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000531134.1_Missense_Mutation_p.G139E	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	54	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AGAACCCCAGGAAGGCATGGA	0.418000													11	83					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117365160	117365160	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:117365160G>C	ENST00000160373.3	-	18	4298	c.4207C>G	c.(4207-4209)Ctc>Gtc	p.L1403V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1403										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AAGATGCTGAGAGCAGCTTTG	0.498000													20	161					0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73470171	73470171	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:73470171G>C	ENST00000539919.1	+	5	546	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000258091.5_Missense_Mutation_p.E103Q|CCT7_ENST00000540468.1_Missense_Mutation_p.E16Q|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000537131.1_Intron	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	103					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GCTGGCTGCAGAGTTTCTGAA	0.507000													5	71					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67857797	67857797	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr18:67857797G>C	ENST00000255674.6	-	9	1452	c.1166C>G	c.(1165-1167)tCa>tGa	p.S389*	RTTN_ENST00000454359.1_Nonsense_Mutation_p.S389*|RTTN_ENST00000437017.1_Nonsense_Mutation_p.S389*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	389							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGGAACAGCTGATTCCAGAAT	0.383000													3	51					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531435	43531435	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:43531435C>G	ENST00000430334.3	-	7	1916	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.E506Q	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	595	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AAGACCAGCTCAAAGCGCCCA	0.642000													4	39					0	0	1	0	0
TMEM79	84283	broad.mit.edu	37	1	156256095	156256095	+	Missense_Mutation	SNP	C	C	T	rs143363559		TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:156256095C>T	ENST00000405535.2	+	3	973	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	TMEM79_ENST00000295694.5_Missense_Mutation_p.R268W|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Missense_Mutation_p.S29L	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	268						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TTCTGCCCTTCGGCCCTTTGG	0.587000													13	57					0	0	1	0	0
TSNAX	7257	broad.mit.edu	37	1	231700378	231700378	+	Silent	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:231700378G>C	ENST00000366639.4	+	6	758	c.600G>C	c.(598-600)cgG>cgC	p.R200R	TSNAX-DISC1_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	200	Interaction with C1D.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				AATTGATGCGGATGTGTATTA	0.458000													8	126					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42003149	42003149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:42003149C>T	ENST00000219905.7	+	8	2867	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*	MGA_ENST00000570161.1_Nonsense_Mutation_p.R896*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R896*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R896*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R896*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	896						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R896R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCCTGTCTCTCGAAAGGCAAA	0.388000													7	115					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149269	129149269	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:129149269C>T	ENST00000540052.1	+	3	2565	c.2521C>T	c.(2521-2523)Ctg>Ttg	p.L841L	BCORL1_ENST00000218147.7_Silent_p.L841L|BCORL1_ENST00000303743.5_Silent_p.L841L|BCORL1_ENST00000359304.2_Silent_p.L841L	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	841					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCAGGCGTCTCTGCTTTCCAT	0.607000													13	121					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231430	7231430	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:7231430C>T	ENST00000379938.2	+	10	3635	c.3098C>T	c.(3097-3099)tCa>tTa	p.S1033L	RREB1_ENST00000349384.6_Missense_Mutation_p.S1033L|RREB1_ENST00000379933.3_Missense_Mutation_p.S1033L|RREB1_ENST00000334984.6_Missense_Mutation_p.S1033L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1033	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTGGGCAGCTCAGCCCTCCTG	0.687000													5	37					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33770879	33770879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:33770879G>T	ENST00000285013.6	-	4	1402	c.1127C>A	c.(1126-1128)tCa>tAa	p.S376*	SLFN13_ENST00000360502.2_Nonsense_Mutation_p.S58*|SLFN13_ENST00000534689.1_Nonsense_Mutation_p.S58*|SLFN13_ENST00000526861.1_Nonsense_Mutation_p.S376*|SLFN13_ENST00000542635.1_Nonsense_Mutation_p.S376*|SLFN13_ENST00000533791.1_Nonsense_Mutation_p.S376*	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	376						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCTGCAAAGTGAAGGACTGTC	0.388000													4	47					0.184627	0.185609	1	1	0
CIC	23152	broad.mit.edu	37	19	42794494	42794494	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:42794494G>T	ENST00000572681.2	+	11	4369	c.4301G>T	c.(4300-4302)gGc>gTc	p.G1434V	CIC_ENST00000575354.2_Missense_Mutation_p.G525V|CIC_ENST00000160740.3_Missense_Mutation_p.G525V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTAGCCTTTGGCAAAGGCTAT	0.632000			"""Mis, F, S"""		oligodendroglioma								17	68					1.33834e-09	1.44266e-09	1	1	0
PRPF18	8559	broad.mit.edu	37	10	13672268	13672268	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:13672268G>A	ENST00000378572.3	+	10	1117	c.957G>A	c.(955-957)aaG>aaA	p.K319K		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	319					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGGGATTGAAGAGGTTAATGA	0.373000													7	112					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43622444	43622444	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:43622444G>A	ENST00000305641.5	-	1	359	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	82					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-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;8.1e-07)	L-Leucine(DB00149)	ATCTGCGCGCGAAGCGCGGCC	0.652000													4	33					0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40003620	40003620	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:40003620G>C	ENST00000293303.4	+	4	1563	c.1410G>C	c.(1408-1410)agG>agC	p.R470S		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	470						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)				GAAGCAGGAGGAGTGGAATAG	0.413000													3	69					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164585	85164585	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:85164585G>C	ENST00000448803.2	+	3	1451	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E386Q|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E387Q|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E237Q	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	387					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCACACAGGAGAGAAACCCTA	0.507000													7	77					0	0	1	0	0
CLTA	1211	broad.mit.edu	37	9	36211652	36211652	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:36211652G>A	ENST00000433436.2	+	7	829	c.628G>A	c.(628-630)Gag>Aag	p.E210K	CLTA_ENST00000470744.1_Missense_Mutation_p.E192K|CLTA_ENST00000540080.1_Missense_Mutation_p.E128K|CLTA_ENST00000396603.2_Missense_Mutation_p.E198K|CLTA_ENST00000466396.1_Missense_Mutation_p.E158K|CLTA_ENST00000345519.5_Missense_Mutation_p.E180K|CLTA_ENST00000538225.1_Missense_Mutation_p.E192K|CLTA_ENST00000242285.6_Missense_Mutation_p.E210K	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	clathrin, light chain A	210					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			CCCAGGCACTGAGTGGGAACG	0.527000													16	82					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50769184	50769184	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:50769184A>G	ENST00000433963.1	+	10	1488	c.988A>G	c.(988-990)Atc>Gtc	p.I330V	USP8_ENST00000307179.4_Missense_Mutation_p.I330V|USP8_ENST00000396444.3_Missense_Mutation_p.I330V|USP8_ENST00000425032.3_Missense_Mutation_p.I253V			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	330					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGAGGTGTCTATCTCATGTAT	0.378000													5	73					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48525511	48525511	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:48525511G>A	ENST00000339841.2	+	6	777	c.599G>A	c.(598-600)gGa>gAa	p.G200E	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.G52E	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	200	Fibronectin type-II 4.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		ACTAACGAAGGATCAAAGGAG	0.463000													7	91					0	0	1	0	0
RAB22A	57403	broad.mit.edu	37	20	56918835	56918835	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:56918835G>A	ENST00000244040.3	+	3	459	c.178G>A	c.(178-180)Gat>Aat	p.D60N	RAB22A_ENST00000488949.1_3'UTR	NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	60					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding	p.D60H(1)		endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			CCTAATCTGGGATACAGCTGG	0.378000													8	40					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2968354	2968354	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:2968354G>C	ENST00000342628.2	-	10	1969	c.1856C>G	c.(1855-1857)tCc>tGc	p.S619C	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Missense_Mutation_p.S566C|FOXM1_ENST00000359843.3_Missense_Mutation_p.S581C	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	581					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)			AGGGTCAGAGGAGTCTGCTGG	0.607000													5	54					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179078333	179078333	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:179078333G>A	ENST00000502732.1	-	12	2272	c.2069C>T	c.(2068-2070)tCa>tTa	p.S690L	ABL2_ENST00000408940.3_Missense_Mutation_p.S654L|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.S675L|ABL2_ENST00000504405.1_Intron|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.S669L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	690					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGCAACAGATGAGAAGTTACC	0.512000			T	ETV6	AML								23	126					0	0	1	0	0
LYZ	4069	broad.mit.edu	37	12	69742271	69742271	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:69742271G>C	ENST00000261267.2	+	1	151	c.83G>C	c.(82-84)aGa>aCa	p.R28T	LYZ_ENST00000548839.1_Missense_Mutation_p.R28T|LYZ_ENST00000549690.1_Missense_Mutation_p.R28T	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	28					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding	p.R28I(1)		endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GAGTTGGCCAGAACTCTGAAA	0.468000													4	51					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77379293	77379293	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:77379293C>T	ENST00000334955.8	+	3	1283	c.1256C>T	c.(1255-1257)tCa>tTa	p.S419L	RSBN1L_ENST00000445288.1_Missense_Mutation_p.S149L	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like							nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACTATTTTTCATTTAATTTT	0.363000													7	120					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4683570	4683570	+	Silent	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:4683570C>G	ENST00000262960.9	-	19	2527	c.2250G>C	c.(2248-2250)ctG>ctC	p.L750L	DPP9_ENST00000594671.1_Silent_p.L721L|DPP9_ENST00000601173.1_5'UTR|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000598800.1_Silent_p.L721L	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	721					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CAACTCGGCTCAGGTCGATGA	0.632000													5	70					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30050694	30050694	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:30050694G>C	ENST00000338641.4	+	5	937	c.496G>C	c.(496-498)Gag>Cag	p.E166Q	NF2_ENST00000347330.5_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.E166Q|NF2_ENST00000403435.1_Missense_Mutation_p.E166Q|NF2_ENST00000403999.3_Missense_Mutation_p.E166Q|NF2_ENST00000334961.7_Missense_Mutation_p.E83Q|NF2_ENST00000361676.4_Missense_Mutation_p.E124Q|NF2_ENST00000353887.4_Missense_Mutation_p.E83Q|NF2_ENST00000361452.4_Missense_Mutation_p.E125Q|NF2_ENST00000413209.2_Intron|NF2_ENST00000361166.4_Missense_Mutation_p.E166Q	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	166	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.E166fs*9(1)|p.E166fs*36(1)|p.A164fs*8(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTTGGCCCAAGAGGAATTGCT	0.428000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				7	122					0	0	1	0	0
CXorf38	159013	broad.mit.edu	37	X	40506725	40506725	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:40506725C>G	ENST00000327877.5	-	1	74	c.48G>C	c.(46-48)aaG>aaC	p.K16N	CXorf38_ENST00000378418.2_Missense_Mutation_p.K16N|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000440784.2_Missense_Mutation_p.K16N	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	16										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						TCACCCAGTTCTTGTACTCGG	0.677000													9	55					0	0	1	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363081	22363081	+	RNA	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr14:22363081C>T	ENST00000390438.2	+	0	340																											AAGTACACATCAGCGGCCACC	0.498000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	118					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184019819	184019819	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:184019819G>A	ENST00000310118.4	+	5	1222	c.664G>A	c.(664-666)Gat>Aat	p.D222N	PSMD2_ENST00000439383.1_Missense_Mutation_p.D92N|PSMD2_ENST00000435761.1_Missense_Mutation_p.D63N|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	222					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GAAGGACATTGATGAAAATGC	0.502000													14	60					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99149911	99149911	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:99149911C>T	ENST00000409016.4	+	5	620	c.223C>T	c.(223-225)Cct>Tct	p.P75S	INPP4A_ENST00000523221.1_Missense_Mutation_p.P75S|INPP4A_ENST00000409851.3_Missense_Mutation_p.P75S|INPP4A_ENST00000074304.5_Missense_Mutation_p.P75S|INPP4A_ENST00000409540.3_Missense_Mutation_p.P75S|INPP4A_ENST00000409463.1_Missense_Mutation_p.P75S|INPP4A_ENST00000545415.1_Missense_Mutation_p.P75S			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa		C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGTCACCACCCCTCCTCAGGC	0.517000													7	79					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41916676	41916676	+	Silent	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:41916676C>G	ENST00000269980.2	+	2	611	c.243C>G	c.(241-243)gtC>gtG	p.V81V	CTC-435M10.3_ENST00000604424.1_3'UTR|BCKDHA_ENST00000457836.2_Silent_p.V59V|CTC-435M10.3_ENST00000540732.1_Silent_p.V115V|BCKDHA_ENST00000595085.1_Silent_p.V115V	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	81					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TCTACCGCGTCATGGACCGGC	0.627000													7	45					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6088238	6088238	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:6088238C>G	ENST00000217289.4	-	6	1578	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	FERMT1_ENST00000536936.1_Missense_Mutation_p.E7Q	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	264	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TGCTCATCCTCTTGGATGCCT	0.353000													3	48					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237778003	237778003	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:237778003G>A	ENST00000366574.2	+	37	5892	c.5575G>A	c.(5575-5577)Gag>Aag	p.E1859K	RYR2_ENST00000542537.1_Missense_Mutation_p.E1843K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1857K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1859	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACTCCGGAGGAGGAGAGTGA	0.542000													3	32					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95660314	95660314	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:95660314G>C	ENST00000436874.1	+	5	721	c.616G>C	c.(616-618)Gat>Cat	p.D206H	VEZT_ENST00000261219.6_Missense_Mutation_p.D158H|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	206						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TCATTTGGAAGATATGGCCAC	0.408000													4	119					0	0	1	0	0
FZD3	7976	broad.mit.edu	37	8	28384777	28384777	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr8:28384777G>A	ENST00000240093.3	+	5	978	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	FZD3_ENST00000537916.1_Missense_Mutation_p.R167Q	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	167					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TGGTGTCCCCGAGAGTTAAAA	0.448000													6	90					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160145904	160145904	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:160145904G>A	ENST00000368081.4	+	16	2805	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	778					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGACAACCTGAAGAAATCCA	0.562000													114	183					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209773397	209773397	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:209773397C>G	ENST00000009105.1	+	3	407	c.162C>G	c.(160-162)atC>atG	p.I54M	CAMK1G_ENST00000361322.2_Missense_Mutation_p.I54M			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	54	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TGAAGTGCATCAAGAAGTCAC	0.463000													8	90					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700636	44700636	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:44700636C>G	ENST00000396056.2	+	4	1016	c.781C>G	c.(781-783)Cag>Gag	p.Q261E	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.Q101E|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	261					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GGCCTTCATTCAGAGTGCAAA	0.458000													9	56					0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65620764	65620764	+	Silent	SNP	G	G	A	rs145602541	byFrequency	TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:65620764G>A	ENST00000308342.6	+	13	1595	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	390					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCAGCACCCTGATTCTCCGGA	0.577000													5	112					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126873	90126873	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:90126873G>C	ENST00000449207.2	-	9	1128	c.1109C>G	c.(1108-1110)tCt>tGt	p.S370C	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	370						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGGTTCTATAGAAGATCTGAT	0.542000													5	67					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15526600	15526600	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:15526600G>A	ENST00000357607.2	+	2	312	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Missense_Mutation_p.E42K|BMX_ENST00000342014.6_Missense_Mutation_p.E42K			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	42	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TTCCTACTATGAATATGACAA	0.294000													11	149					0	0	1	0	0
SLC23A3	151295	broad.mit.edu	37	2	220034556	220034556	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:220034556G>T	ENST00000455516.2	-	1	198	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	SLC23A3_ENST00000409878.3_Missense_Mutation_p.L51M|SLC23A3_ENST00000396775.3_De_novo_Start_InFrame|SLC23A3_ENST00000295738.7_Missense_Mutation_p.L51M	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	51					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCAGAGCCAGAAGACAGCTG	0.597000													13	87					0.00136819	0.00142342	1	1	0
ZNF622	90441	broad.mit.edu	37	5	16451769	16451769	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:16451769G>C	ENST00000308683.2	-	6	1557	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	477						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CAGACTCTCAGAATCTCACTT	0.473000													6	99					0	0	1	0	0
FOXE1	2304	broad.mit.edu	37	9	100616651	100616651	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:100616651C>T	ENST00000375123.3	+	1	1116	c.455C>T	c.(454-456)tCg>tTg	p.S152L		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	152					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				TTCAAGCGCTCGGACCTCTCC	0.736000													3	15					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147377	129147377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:129147377C>A	ENST00000540052.1	+	3	673	c.629C>A	c.(628-630)tCg>tAg	p.S210*	BCORL1_ENST00000218147.7_Nonsense_Mutation_p.S210*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.S210*|BCORL1_ENST00000359304.2_Nonsense_Mutation_p.S210*	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	210	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTCCCGGTTCGGCCTCTGTG	0.617000													8	117					9.70103e-10	1.04971e-09	1	1	0
FBN1	2200	broad.mit.edu	37	15	48703192	48703192	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:48703192G>C	ENST00000316623.5	-	66	9066	c.8611C>G	c.(8611-8613)Cat>Gat	p.H2871D		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2871					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGAATTAATGAAGCAAAACC	0.323000													6	61					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176863943	176863943	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:176863943C>T	ENST00000367654.3	-	17	2930	c.2719G>A	c.(2719-2721)Gag>Aag	p.E907K	ASTN1_ENST00000361833.2_Missense_Mutation_p.E899K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E899K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E899K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCCGCTCCTCAGACTCATCT	0.527000													7	101					0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183855953	183855953	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:183855953G>A	ENST00000273783.3	+	5	806		c.e5-1		EIF2B5_ENST00000444495.1_Splice_Site	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa						astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCTCCCCACAGAGCCTGTTTC	0.478000													14	79					0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24129392	24129392	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:24129392G>A	ENST00000344921.6	+	1	243	c.36G>A	c.(34-36)caG>caA	p.Q12Q	SMARCB1_ENST00000407082.3_Silent_p.Q12Q|SMARCB1_ENST00000407422.3_Silent_p.Q12Q|SMARCB1_ENST00000263121.7_Silent_p.Q12Q			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	12					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CCTTCGGGCAGAAGCCCGTGA	0.716000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							4	49					0	0	1	0	0
GK5	256356	broad.mit.edu	37	3	141917776	141917776	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:141917776C>G	ENST00000392993.2	-	5	563		c.e5-1		GK5_ENST00000544571.1_Splice_Site	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)						glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TGTGAAATATCTATATTTTAA	0.313000													6	25					0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	249118	249118	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:249118G>A	ENST00000337351.4	-	6	753	c.630C>T	c.(628-630)ttC>ttT	p.F210F	LUC7L_ENST00000397780.1_Silent_p.F157F|LUC7L_ENST00000293872.8_Silent_p.F210F|LUC7L_ENST00000397783.1_Silent_p.F210F	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	210							metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				ACTTGCCACCGAAGTGGTCTG	0.517000													8	64					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51712576	51712576	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:51712576G>A	ENST00000371117.3	-	50	8379	c.8104C>T	c.(8104-8106)Ctg>Ttg	p.L2702L	PKHD1_ENST00000340994.4_Silent_p.L2702L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2702					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TACTTACCCAGATAGGTGAGT	0.458000													3	52					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16042472	16042472	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:16042472G>C	ENST00000268712.3	-	12	1459	c.1202C>G	c.(1201-1203)tCt>tGt	p.S401C	NCOR1_ENST00000395848.1_Missense_Mutation_p.S292C|NCOR1_ENST00000395851.1_Missense_Mutation_p.S401C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	401					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGAATCACAGAGAGCTGCCG	0.363000													6	68					0	0	1	0	0
EXOSC5	56915	broad.mit.edu	37	19	41903134	41903134	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:41903134C>T	ENST00000221233.4	-	1	250	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	EXOSC5_ENST00000596905.1_Missense_Mutation_p.E34K|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	34					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGGTTCTGTTCGCAGGCAAAG	0.572000													23	75					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29707859	29707859	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:29707859G>A	ENST00000471961.1	+	5	2466	c.1418G>A	c.(1417-1419)aGa>aAa	p.R473K	GAS2L1_ENST00000407854.1_Missense_Mutation_p.R473K|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R473K|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R473K			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	476					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						GCACCCCCCAGACTCCCCGTG	0.706000													4	15					0	0	1	0	0
C13orf35	400165	broad.mit.edu	37	13	113337634	113337634	+	Silent	SNP	T	T	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:113337634T>C	ENST00000356049.1	+	3	1064	c.306T>C	c.(304-306)taT>taC	p.Y102Y		NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	chromosome 13 open reading frame 35	102										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			TAATGGTCTATATTAAAGTTA	0.313000													27	98					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100904719	100904719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:100904719C>A	ENST00000548884.1	+	4	784	c.243C>A	c.(241-243)taC>taA	p.Y81*	NR1H4_ENST00000188403.7_Nonsense_Mutation_p.Y91*|NR1H4_ENST00000549996.1_Nonsense_Mutation_p.Y81*|NR1H4_ENST00000551379.1_Nonsense_Mutation_p.Y91*|NR1H4_ENST00000392986.3_Nonsense_Mutation_p.Y81*	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	91					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AAGAGTGGTACTCTCCTGGAA	0.488000													4	49					3.59834e-05	3.79936e-05	1	1	0
KIAA2022	340533	broad.mit.edu	37	X	73963864	73963864	+	Silent	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:73963864C>A	ENST00000055682.6	-	3	1139	c.528G>T	c.(526-528)acG>acT	p.T176T		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGACTGCACACGTTTCATAAT	0.468000													8	62					0.27861	0.279103	1	1	0
RNF216	54476	broad.mit.edu	37	7	5781290	5781290	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:5781290C>T	ENST00000389902.3	-	4	625	c.358G>A	c.(358-360)Gat>Aat	p.D120N	RNF216_ENST00000425013.2_Intron			Q9NWF9	RN216_HUMAN	ring finger protein 216	65					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)		GCCCCAGAATCAAACAATGGG	0.433000													18	147					0	0	1	0	0
MIR518A1	574488	broad.mit.edu	37	19	54234341	54234341	+	RNA	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:54234341G>C	ENST00000385068.1	+	0	82					NR_030210.1																						ATTACGGTTTGAGAAAAACAA	0.473000													4	78					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209138367	209138367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:209138367C>T	ENST00000264380.4	+	3	390	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	PIKFYVE_ENST00000407449.1_Nonsense_Mutation_p.Q78*|PIKFYVE_ENST00000392202.3_Nonsense_Mutation_p.Q78*|PIKFYVE_ENST00000308862.6_Nonsense_Mutation_p.Q78*	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	78					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GACCAGCCCTCAGCTCCCTTC	0.502000													4	62					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70229870	70229870	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:70229870C>T	ENST00000399180.2	-	2	382	c.383G>A	c.(382-384)gGa>gAa	p.G128E	DNA2_ENST00000358410.3_Missense_Mutation_p.G42E|DNA2_ENST00000399179.2_Missense_Mutation_p.G42E			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	42					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GTTATCCATTCCTGTGCTCAG	0.418000													4	27					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764451	138764451	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:138764451G>A	ENST00000242351.5	-	4	1552	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	ZC3HAV1_ENST00000464606.1_Silent_p.I412I|ZC3HAV1_ENST00000471652.1_Silent_p.I412I	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	412					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGCCATTGATGATCCTGTAGT	0.498000													12	116					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35970072	35970072	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:35970072C>T	ENST00000297866.5	+	6	1104	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	346										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CATTTTGTTTCACCCCAAAGT	0.259000													6	160					0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52468875	52468875	+	Silent	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:52468875G>C	ENST00000243644.4	-	5	1058	c.831C>G	c.(829-831)ctC>ctG	p.L277L	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	277					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GATGTATGTTGAGCCGTGATT	0.418000													25	119					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96131821	96131821	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:96131821C>T	ENST00000343702.4	-	3	1135	c.687G>A	c.(685-687)ctG>ctA	p.L229L	NTN4_ENST00000344911.4_Silent_p.L192L|NTN4_ENST00000553059.1_Silent_p.L229L|NTN4_ENST00000538383.1_Silent_p.L192L|NTN4_ENST00000552603.1_5'UTR	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	229	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACTGTCGTTTCAGCAGCTGCA	0.453000													7	68					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54670833	54670833	+	Silent	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:54670833C>A	ENST00000605337.1	+	2	537	c.489C>A	c.(487-489)ctC>ctA	p.L163L	MRPL37_ENST00000360840.5_Silent_p.L163L|MRPL37_ENST00000336230.6_Intron|MRPL37_ENST00000487096.1_3'UTR			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	163					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ACGCCCGTCTCTGGCAGACCA	0.493000													9	75					1.76689e-08	1.89382e-08	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2566823	2566823	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:2566823G>A	ENST00000399655.1	+	5	973	c.708G>A	c.(706-708)ctG>ctA	p.L236L	CACNA1C_ENST00000399617.1_Silent_p.L236L|CACNA1C_ENST00000402845.3_Silent_p.L236L|CACNA1C_ENST00000399649.1_Silent_p.L236L|CACNA1C_ENST00000347598.4_Silent_p.L236L|CACNA1C_ENST00000399601.1_Silent_p.L236L|CACNA1C_ENST00000399634.1_Silent_p.L236L|CACNA1C_ENST00000399591.1_Silent_p.L236L|CACNA1C_ENST00000406454.3_Silent_p.L236L|CACNA1C_ENST00000399629.1_Silent_p.L236L|CACNA1C_ENST00000480911.1_Silent_p.L236L|CACNA1C_ENST00000399606.1_Silent_p.L236L|CACNA1C_ENST00000344100.3_Silent_p.L236L|CACNA1C_ENST00000399621.1_Silent_p.L236L|CACNA1C_ENST00000399595.1_Silent_p.L236L|CACNA1C_ENST00000399641.1_Silent_p.L236L|CACNA1C_ENST00000399638.1_Silent_p.L236L|CACNA1C_ENST00000399603.1_Silent_p.L236L|CACNA1C_ENST00000399644.1_Silent_p.L236L|CACNA1C_ENST00000399597.1_Silent_p.L236L|CACNA1C_ENST00000327702.7_Silent_p.L236L|CACNA1C_ENST00000335762.5_Silent_p.L236L|CACNA1C_ENST00000399637.1_Silent_p.L236L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	236					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.L236L(1)|p.L266L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGAAGGCGCTGAGGGCCTTCC	0.552000													6	173					0	0	1	0	0
NTMT1	28989	broad.mit.edu	37	9	132394987	132394987	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:132394987C>T	ENST00000372486.1	+	2	354	c.5C>T	c.(4-6)aCg>aTg	p.T2M	NTMT1_ENST00000459968.2_Missense_Mutation_p.T2M|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372483.4_Missense_Mutation_p.T2M|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372481.3_Missense_Mutation_p.T2M|NTMT1_ENST00000372480.1_Missense_Mutation_p.T2M					N-terminal Xaa-Pro-Lys N-methyltransferase 1									p.T2fs*4(1)									GACAGCATGACGAGCGAGGTG	0.582000													4	30					0	0	1	0	0
NEK2	4751	broad.mit.edu	37	1	211842593	211842593	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:211842593G>C	ENST00000366999.4	-	6	985	c.847C>G	c.(847-849)Ctt>Gtt	p.L283V	NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000540251.1_Missense_Mutation_p.L240V|NEK2_ENST00000366998.3_Missense_Mutation_p.L283V	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	283	Interaction with PCNT.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		CTTCTCTCAAGATTTCTTCTT	0.433000													17	98					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853586	40853586	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:40853586C>G	ENST00000254691.5	+	3	2351	c.2152C>G	c.(2152-2154)Ctc>Gtc	p.L718V	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	718					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTTCAGAATCTCTATGGTAC	0.458000													85	212					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197030934	197030934	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:197030934G>A	ENST00000367412.1	-	3	474	c.431C>T	c.(430-432)cCa>cTa	p.P144L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	144	Sushi 2.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CCTACAGGTTGGTTGAGAAGA	0.378000													5	61					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46782273	46782273	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:46782273G>C	ENST00000529230.1	-	33	4329	c.4283C>G	c.(4282-4284)tCt>tGt	p.S1428C	CKAP5_ENST00000354558.3_Missense_Mutation_p.S1428C|CKAP5_ENST00000415402.1_Missense_Mutation_p.S1428C|CKAP5_ENST00000312055.5_Missense_Mutation_p.S1428C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1428					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGGTGCAGCAGAGGGTCTCTT	0.463000													12	55					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57693481	57693481	+	Silent	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:57693481C>A	ENST00000562631.1	+	11	1975	c.1443C>A	c.(1441-1443)ctC>ctA	p.L481L	GPR56_ENST00000388813.5_Silent_p.L481L|GPR56_ENST00000379694.4_Silent_p.L317L|GPR56_ENST00000538815.1_Silent_p.L481L|GPR56_ENST00000388812.4_Silent_p.L487L|GPR56_ENST00000568908.1_Silent_p.L481L|GPR56_ENST00000540164.2_Silent_p.L481L|GPR56_ENST00000379696.3_Silent_p.L487L|GPR56_ENST00000567835.1_Silent_p.L487L|GPR56_ENST00000562558.1_Silent_p.L481L|GPR56_ENST00000568909.1_Silent_p.L487L|GPR56_ENST00000456916.1_Silent_p.L487L|GPR56_ENST00000544297.1_Silent_p.L306L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	487					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCTCCCTGCTCACCTGCCTTT	0.622000													4	77					0.184627	0.185609	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11574558	11574558	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:11574558G>A	ENST00000294484.6	+	4	1566	c.1428G>A	c.(1426-1428)ctG>ctA	p.L476L	PTCHD2_ENST00000389575.3_Silent_p.L476L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	476	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TTGCTGCCCTGGTCTACATCC	0.582000													5	50					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200954022	200954022	+	Silent	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:200954022G>T	ENST00000332129.2	-	27	4084	c.3768C>A	c.(3766-3768)ctC>ctA	p.L1256L	KIF21B_ENST00000422435.2_Silent_p.L1256L|KIF21B_ENST00000461742.2_Silent_p.L1256L|KIF21B_ENST00000360529.5_Silent_p.L1256L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1256					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATTACTGGTGAGACGAGAGA	0.617000													4	55					0.014758	0.014996	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129148343	129148343	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:129148343C>G	ENST00000540052.1	+	3	1639	c.1595C>G	c.(1594-1596)tCc>tGc	p.S532C	BCORL1_ENST00000218147.7_Missense_Mutation_p.S532C|BCORL1_ENST00000303743.5_Missense_Mutation_p.S532C|BCORL1_ENST00000359304.2_Missense_Mutation_p.S532C	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	532	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACTTCCCCATCCGGTAGCACC	0.587000													20	166					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40765069	40765069	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:40765069G>A	ENST00000397128.2	-	7	1101	c.1093C>T	c.(1093-1095)Cat>Tat	p.H365Y	PRKAA1_ENST00000354209.3_Missense_Mutation_p.H380Y	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	365					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GTCAGGTGATGATCATCAAGA	0.433000													9	122					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22242655	22242655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:22242655C>T	ENST00000324559.8	+	5	510	c.193C>T	c.(193-195)Cag>Tag	p.Q65*		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	65						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAAAAAAATCAGCAAAGCAA	0.323000													4	23					0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50115113	50115113	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:50115113C>T	ENST00000378302.2	-	12	1614	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	RCBTB1_ENST00000258646.3_Missense_Mutation_p.E452K	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	452					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AGTCTGTTTTCACAGTAAGAT	0.348000													14	47					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82380647	82380647	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr4:82380647G>A	ENST00000436139.2	-	2	142	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.P6S|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.P6S|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.P6S			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	6					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GCTGAAAAGGGAGGAGTCTGA	0.388000													5	59					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220777450	220777450	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:220777450G>C	ENST00000402574.1	+	6	1063	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	MARK1_ENST00000366918.4_Missense_Mutation_p.E134Q|MARK1_ENST00000366917.4_Missense_Mutation_p.E156Q	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	156					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAGAATGAAAGAGAAAGAGGC	0.338000													17	83					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727683	69727683	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:69727683C>G	ENST00000349945.1	+	14	5225	c.3673C>G	c.(3673-3675)Cag>Gag	p.Q1225E	NFAT5_ENST00000566899.1_Missense_Mutation_p.Q1225E|NFAT5_ENST00000354436.2_Missense_Mutation_p.Q1301E|NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1318E|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q1225E|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1319E	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1301					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AATGGCTAATCAGGAGCAACA	0.413000													3	54					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31983643	31983643	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:31983643G>C	ENST00000438447.1	+	3	1247	c.859G>C	c.(859-861)Gac>Cac	p.D287H	PDZD2_ENST00000282493.3_Missense_Mutation_p.D287H			O15018	PDZD2_HUMAN	PDZ domain containing 2	287					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCAGAAGTGGACAGAGGGAC	0.512000													28	63					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48130676	48130676	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:48130676G>A	ENST00000311303.3	-	22	3521	c.3176C>T	c.(3175-3177)tCa>tTa	p.S1059L	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1059	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTATGACAATGACAGGCCTTT	0.502000													13	127					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96117710	96117710	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:96117710C>G	ENST00000278520.5	-	3	630	c.202G>C	c.(202-204)Gat>Cat	p.D68H	CCDC82_ENST00000542662.1_Missense_Mutation_p.D68H|CCDC82_ENST00000423339.2_Missense_Mutation_p.D68H			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	68							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TTGTTACTATCAAGCTCTTCA	0.343000													8	72					0	0	1	0	0
TRMT10C	54931	broad.mit.edu	37	3	101284332	101284332	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:101284332G>T	ENST00000309922.6	+	2	861	c.707G>T	c.(706-708)aGa>aTa	p.R236I		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		TGGAACAGAAGAAATGTTGAT	0.338000													6	53					3.59834e-05	3.79936e-05	1	1	0
STX10	8677	broad.mit.edu	37	19	13260352	13260352	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:13260352C>T	ENST00000589083.1	-	3	313	c.261G>A	c.(259-261)gaG>gaA	p.E87E	STX10_ENST00000343587.5_Intron|STX10_ENST00000587230.1_Silent_p.E87E|STX10_ENST00000242770.5_Silent_p.E87E	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	syntaxin 10	87					Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			ACACCTTTCTCTCCTGCAGGT	0.572000													6	44					0	0	1	0	0
RSRC2	65117	broad.mit.edu	37	12	122992806	122992806	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:122992806C>G	ENST00000331738.7	-	8	1139	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	RSRC2_ENST00000354654.2_Missense_Mutation_p.E284Q|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	332										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		CTTTTTTTCTCTTGTTCAGCA	0.403000													7	73					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71124899	71124899	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:71124899C>G	ENST00000299213.8	-	3	1038	c.968G>C	c.(967-969)aGa>aCa	p.R323T		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	323					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CTCCTCGACTCTCTTGTTCAG	0.552000													12	154					0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99806094	99806094	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr4:99806094C>G	ENST00000450253.2	-	6	2042	c.518G>C	c.(517-519)aGa>aCa	p.R173T	EIF4E_ENST00000504432.1_Missense_Mutation_p.R201T|EIF4E_ENST00000280892.6_Missense_Mutation_p.R193T|EIF4E_ENST00000505992.1_Missense_Mutation_p.R204T	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	173					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		AACAGCTTCTCTGTTTTCACA	0.333000													7	50					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591572	46591572	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:46591572G>A	ENST00000398637.5	-	16	1987	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	SLC38A1_ENST00000549049.1_Silent_p.F431F|SLC38A1_ENST00000546893.1_Silent_p.F431F|SLC38A1_ENST00000552197.1_Silent_p.F431F|SLC38A1_ENST00000439706.1_Silent_p.F431F	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	431					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AAGGAAGAATGAAAATAAGCA	0.353000													8	74					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86691332	86691332	+	Missense_Mutation	SNP	C	C	G	rs141469380		TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:86691332C>G	ENST00000409556.1	+	10	1365	c.1000C>G	c.(1000-1002)Cct>Gct	p.P334A	KDM3A_ENST00000312912.5_Missense_Mutation_p.P334A|KDM3A_ENST00000409064.1_Missense_Mutation_p.P334A|KDM3A_ENST00000542128.1_Missense_Mutation_p.P282A			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	334					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P334S(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AGCAAAAATTCCTCAAGGGTG	0.423000													3	41					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536422	27536422	+	RNA	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:27536422G>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TATGCTCTTGGATGAATGAAG	0.567000													5	19					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1406378	1406378	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:1406378G>A	ENST00000270349.9	-	12	1651	c.1524C>T	c.(1522-1524)atC>atT	p.I508I	SLC6A3_ENST00000453492.2_Silent_p.I508I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	508					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCATCTGCTGGATGTCGTCGC	0.647000													12	130					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29693797	29693797	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:29693797G>T	ENST00000376861.1	+	7	1397	c.1013G>T	c.(1012-1014)aGa>aTa	p.R338I	HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.R338I|HLA-F_ENST00000334668.4_Missense_Mutation_p.R338I|HLA-F_ENST00000434407.2_Missense_Mutation_p.R246I|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	338					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GATAGAAACAGAGGGAGCTAC	0.517000													4	58					1	1	1	1	0
OR13C3	138803	broad.mit.edu	37	9	107298890	107298890	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:107298890G>C	ENST00000374781.2	-	1	247	c.205C>G	c.(205-207)Cta>Gta	p.L69V		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTGCCAATTAGAATCACTAGG	0.398000													5	44					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59851884	59851884	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr8:59851884G>T	ENST00000361421.1	-	3	608	c.388C>A	c.(388-390)Ctg>Atg	p.L130M		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	130						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TTAGAAAGCAGTGTTCCATCC	0.488000													4	61					0.150653	0.152265	1	1	0
RAB5B	5869	broad.mit.edu	37	12	56385209	56385209	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:56385209G>A	ENST00000360299.5	+	5	725	c.504G>A	c.(502-504)atG>atA	p.M168I	RAB5B_ENST00000448789.2_Missense_Mutation_p.M127I|RAB5B_ENST00000553116.1_Missense_Mutation_p.M168I	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	168					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			AGACAGCTATGAACGTGAATG	0.443000													5	44					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32910169	32910169	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:32910169G>C	ENST00000304056.4	-	4	1359	c.660C>G	c.(658-660)atC>atG	p.I220M	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	220										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			CATCAATTCTGATTTGGCTAA	0.428000													3	77					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64679541	64679541	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr14:64679541G>C	ENST00000357395.3	+	106	19173	c.8029G>C	c.(8029-8031)Gaa>Caa	p.E2677Q	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2677Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6292Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6251Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2926Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6292Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.E75Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E170Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6292					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTCCAACAGGAAATTACATT	0.448000													3	60					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32490313	32490313	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:32490313C>T	ENST00000357033.4	-	22	3123	c.2917G>A	c.(2917-2919)Gaa>Aaa	p.E973K	DMD_ENST00000378677.2_Missense_Mutation_p.E969K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	973					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCATGATTTCATAGTCGGTG	0.443000													8	117					0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153747799	153747799	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:153747799C>T	ENST00000271857.2	+	1	970	c.210C>T	c.(208-210)ctC>ctT	p.L70L	SLC27A3_ENST00000368661.3_5'UTR|SLC27A3_ENST00000484014.1_3'UTR			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	220					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTCTGCTCTCCGCCCGTGTG	0.721000													7	31					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23647110	23647110	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:23647110G>C	ENST00000261584.4	-	4	909	c.757C>G	c.(757-759)Cta>Gta	p.L253V		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	253	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTATCTGATAGAGTCTGTAAA	0.413000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					8	116					0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159790162	159790162	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr4:159790162G>C	ENST00000264433.6	+	13	2449	c.2374G>C	c.(2374-2376)Gac>Cac	p.D792H	FNIP2_ENST00000379346.3_Missense_Mutation_p.D815H	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	792	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGGCGAGTCTGACAAGGGTTT	0.557000													7	76					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42678764	42678764	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:42678764C>T	ENST00000232978.8	+	13	1756	c.1568C>T	c.(1567-1569)tCt>tTt	p.S523F	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	523	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGATCAAAATCTCACTCACAG	0.418000													9	73					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51488275	51488275	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:51488275C>G	ENST00000340438.4	+	1	1795	c.1553C>G	c.(1552-1554)tCt>tGt	p.S518C		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	518					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CTCTGCCATTCTGGACGCACG	0.423000													4	123					0	0	1	0	0
TMEM164	84187	broad.mit.edu	37	X	109416569	109416569	+	Missense_Mutation	SNP	C	C	G	rs146630087		TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:109416569C>G	ENST00000372073.1	+	7	1120	c.784C>G	c.(784-786)Ctc>Gtc	p.L262V	TMEM164_ENST00000372072.3_Missense_Mutation_p.L113V|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Missense_Mutation_p.L262V|TMEM164_ENST00000288381.4_Missense_Mutation_p.L223V			Q5U3C3	TM164_HUMAN	transmembrane protein 164	262						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						ACACCAGACTCTCATGACCAT	0.547000													5	104					0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2510979	2510979	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:2510979C>G	ENST00000569496.1	+	4	418	c.359C>G	c.(358-360)tCc>tGc	p.S120C	C16orf59_ENST00000563531.1_Missense_Mutation_p.S120C|C16orf59_ENST00000361837.4_Missense_Mutation_p.S120C|C16orf59_ENST00000483320.1_5'UTR			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	120										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ACGACAGCCTCCGCCCCACCG	0.627000													4	44					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4540439	4540439	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:4540439C>G	ENST00000570836.1	-	8	1018	c.922G>C	c.(922-924)Gat>Cat	p.D308H	ALOX15_ENST00000574640.1_Missense_Mutation_p.D269H|ALOX15_ENST00000545513.1_Missense_Mutation_p.D330H|ALOX15_ENST00000293761.3_Missense_Mutation_p.D308H			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	308	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AGTTTCCCATCAGGCTGCAAT	0.522000													4	69					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16001793	16001793	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:16001793G>C	ENST00000268712.3	-	21	2965	c.2708C>G	c.(2707-2709)tCa>tGa	p.S903*	NCOR1_ENST00000395848.1_Nonsense_Mutation_p.S810*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S919*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	903					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGAAGGCTTTGAGTCCATAGG	0.363000													5	56					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130023557	130023557	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:130023557C>T	ENST00000011292.3	+	6	768	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CPA1_ENST00000484324.1_Silent_p.F118F	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	206					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ATGCAGCTTTCACCGCCATTC	0.592000													11	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404286	179404286	+	Silent	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:179404286G>T	ENST00000589042.1	-	352	98730	c.98506C>A	c.(98506-98508)Cga>Aga	p.R32836R	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.R31195R|TTN_ENST00000342175.6_Silent_p.R23963R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.R23771R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.R23896R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.R30268R|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31195							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)			GGCACTTCTCGTCTCTCGAGG	0.498000													6	141					8.12818e-05	8.53459e-05	1	1	0
CAD	790	broad.mit.edu	37	2	27462221	27462221	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:27462221C>T	ENST00000264705.4	+	33	5438	c.5276C>T	c.(5275-5277)aCa>aTa	p.T1759I	CAD_ENST00000403525.1_Missense_Mutation_p.T1696I	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1759	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CATGAGTGGACAATTCCCAGC	0.592000													4	48					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2381025	2381025	+	Silent	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:2381025G>C	ENST00000202625.2	+	7	985	c.924G>C	c.(922-924)ctG>ctC	p.L308L	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.L308L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	308					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACCAGAACCTGAGTGTGGACA	0.617000													6	48					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80400394	80400394	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:80400394G>A	ENST00000337014.6	+	12	2158	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	HEXDC_ENST00000327949.9_3'UTR|HEXDC_ENST00000577944.1_Silent_p.L534L	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	476					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTCAGTTCCTGAGGGCCCTGG	0.617000													6	83					0	0	1	0	0
RAB9A	9367	broad.mit.edu	37	X	13726930	13726930	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:13726930C>G	ENST00000464506.1	+	3	344	c.65C>G	c.(64-66)tCa>tGa	p.S22*	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	22					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GGGAAGAGTTCACTTATGAAC	0.338000													9	139					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108337263	108337263	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:108337263G>A	ENST00000263054.6	-	26	3429	c.3422C>T	c.(3421-3423)tCa>tTa	p.S1141L	SORCS1_ENST00000344440.6_Intron|SORCS1_ENST00000369698.1_3'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1141						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)		TCGGAGAGATGAGTCACCAGG	0.498000													6	38					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209168953	209168953	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:209168953G>A	ENST00000264380.4	+	11	1537	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.G460E|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.G363E|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.G374E	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	460					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCCGTGGAAGGACACTCTGAG	0.443000													6	66					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49713347	49713347	+	Silent	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:49713347C>G	ENST00000296456.5	+	5	790	c.390C>G	c.(388-390)ctC>ctG	p.L130L	APEH_ENST00000438011.1_Silent_p.L130L	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	130					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCGGAAGCTCAAGAGCTTCA	0.572000													4	32					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71650691	71650691	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:71650691G>A	ENST00000409544.1	+	22	4677	c.4047G>A	c.(4045-4047)atG>atA	p.M1349I	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.M1349I|ZNF638_ENST00000409407.1_Missense_Mutation_p.M289I	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1349	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGGCAGCAATGAAAGAAAAGC	0.393000													3	35					0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169351465	169351465	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:169351465G>C	ENST00000367808.3	+	6	1386	c.963G>C	c.(961-963)aaG>aaC	p.K321N	BLZF1_ENST00000329281.2_Missense_Mutation_p.K321N			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	321					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ATCAAAAAAAGATTCCATCAA	0.388000													9	69					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29706489	29706489	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:29706489G>C	ENST00000471961.1	+	2	1742	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	GAS2L1_ENST00000407854.1_Missense_Mutation_p.E232Q|GAS2L1_ENST00000403764.1_Missense_Mutation_p.E232Q|GAS2L1_ENST00000406549.3_Missense_Mutation_p.E232Q|GAS2L1_ENST00000360113.2_Missense_Mutation_p.E232Q|GAS2L1_ENST00000341313.6_Missense_Mutation_p.E232Q|GAS2L1_ENST00000407647.2_Missense_Mutation_p.E232Q			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	232	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CAAGGTCTCAGAGGGGAAGTA	0.647000													6	69					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25727643	25727643	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr18:25727643G>A	ENST00000269141.3	-	2	589	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F		NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	56					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTACCATTGAGAAGAGGCTGT	0.378000													11	90					0	0	1	0	0
MAGOHB	55110	broad.mit.edu	37	12	10760501	10760501	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:10760501G>C	ENST00000320756.2	-	4	389	c.299C>G	c.(298-300)tCt>tGt	p.S100C	MAGOHB_ENST00000381881.2_Missense_Mutation_p.S63C|MAGOHB_ENST00000539554.1_Missense_Mutation_p.S54C	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	100					mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding			breast(2)|large_intestine(2)	4						TGTGGTAAAAGATATGTGCTC	0.303000													8	60					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139838962	139838962	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:139838962C>A	ENST00000397560.2	-	2	320	c.223G>T	c.(223-225)Gtt>Ttt	p.V75F	JHDM1D_ENST00000006967.5_Missense_Mutation_p.V75F	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		75					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCAATGTCAACAGCATGATGT	0.358000													4	118					0.00909568	0.00929234	1	1	0
KIF26B	55083	broad.mit.edu	37	1	245704092	245704092	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:245704092C>G	ENST00000366518.4	+	2	151	c.47C>G	c.(46-48)tCt>tGt	p.S16C	KIF26B_ENST00000407071.2_Missense_Mutation_p.S397C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	397					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TTAAATCTGTCTTCTAAAAAG	0.473000													5	96					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50923681	50923681	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr18:50923681G>C	ENST00000442544.2	+	18	3308	c.2692G>C	c.(2692-2694)Gaa>Caa	p.E898Q	DCC_ENST00000581580.1_Missense_Mutation_p.E533Q|DCC_ENST00000412726.1_Missense_Mutation_p.E726Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	898	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTATAGTCAGAAGACACAAC	0.328000													4	44					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016695	121016695	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:121016695G>C	ENST00000392793.1	+	12	4246	c.3975G>C	c.(3973-3975)aaG>aaC	p.K1325N	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.K1325N			O75443	TECTA_HUMAN	tectorin alpha	1325					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCTTCTATAAGAACTGCCTGT	0.562000													7	130					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65113160	65113160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:65113160C>T	ENST00000528416.1	+	7	794	c.661C>T	c.(661-663)Cga>Tga	p.R221*	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Nonsense_Mutation_p.R235*|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	221					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TTACAAGAACCGACCAGGCCT	0.542000													4	65					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176684035	176684035	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:176684035G>A	ENST00000439151.2	+	13	4894	c.4849G>A	c.(4849-4851)Gaa>Aaa	p.E1617K	NSD1_ENST00000354179.4_Missense_Mutation_p.E1348K|NSD1_ENST00000361032.4_Missense_Mutation_p.E1514K|NSD1_ENST00000347982.4_Missense_Mutation_p.E1348K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1617					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTTTACCATGAAGAGTGTGT	0.463000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			7	52					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	443457	443457	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:443457A>C	ENST00000399788.2	-	11	1802	c.1440T>G	c.(1438-1440)ttT>ttG	p.F480L	KDM5A_ENST00000382815.4_Missense_Mutation_p.F480L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	480	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTGCCAGCAAAAAGAAGAGA	0.428000			T	NUP98	AML								22	122					0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55759360	55759360	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:55759360C>T	ENST00000321149.3	-	5	773		c.e5-1		DYX1C1_ENST00000448430.2_Splice_Site|DYX1C1_ENST00000457155.2_Splice_Site|DYX1C1_ENST00000348518.3_Splice_Site|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Splice_Site	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1						neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		cttcttCAATCTATAACAATT	0.264000													4	31					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7772013	7772013	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:7772013G>A	ENST00000358415.4	+	12	1544	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	ITIH2_ENST00000379587.4_Missense_Mutation_p.D449N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	460	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGTGGACTATGATTTTTTGAA	0.383000													5	72					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150923439	150923439	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:150923439G>A	ENST00000271640.5	+	13	2276	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	SETDB1_ENST00000368969.4_Missense_Mutation_p.E696K|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTGTCAATGAGATTGACAC	0.468000													7	102					0	0	1	0	0
IDH3A	3419	broad.mit.edu	37	15	78461301	78461301	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:78461301C>G	ENST00000299518.2	+	11	1138	c.1055C>G	c.(1054-1056)tCa>tGa	p.S352*	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Nonsense_Mutation_p.S73*|IDH3A_ENST00000558554.1_Nonsense_Mutation_p.S317*|IDH3A_ENST00000441490.2_Nonsense_Mutation_p.S243*|ACSBG1_ENST00000258873.4_3'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	352					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	GCAAAATGCTCAGACTTCACA	0.378000													6	136					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39847133	39847133	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:39847133C>T	ENST00000538976.1	+	14	1907	c.1725C>T	c.(1723-1725)ctC>ctT	p.L575L	DAAM2_ENST00000398904.2_Silent_p.L575L|DAAM2_ENST00000274867.4_Silent_p.L575L	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	575	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CACCTTGCCTCGGCATGGGCC	0.677000													5	27					0	0	1	0	0
LMBR1L	55716	broad.mit.edu	37	12	49499738	49499738	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:49499738C>G	ENST00000267102.8	-	3	502	c.160G>C	c.(160-162)Gat>Cat	p.D54H	LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000395141.4_Missense_Mutation_p.D49H|LMBR1L_ENST00000547382.1_Missense_Mutation_p.D54H	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	54	LCN1-binding.				endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCTTCATCATCCACTGTAAGA	0.562000													4	48					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42177789	42177789	+	Silent	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:42177789C>G	ENST00000401548.3	+	24	3067	c.3027C>G	c.(3025-3027)ctC>ctG	p.L1009L	MEI1_ENST00000540880.1_3'UTR|MEI1_ENST00000400107.1_Silent_p.L342L|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Silent_p.L17L	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1009							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGCACTCCTCTGCTCTGCCT	0.587000													5	34					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34383868	34383868	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:34383868C>G	ENST00000373381.4	-	5	923	c.747G>C	c.(745-747)caG>caC	p.Q249H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	209	CUB 2.					integral to membrane|plasma membrane	protein binding	p.Q209H(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGATGCCACTCTGGCCCCGCA	0.592000													4	13					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53674349	53674349	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:53674349C>T	ENST00000342160.3	-	5	770	c.313G>A	c.(313-315)Gag>Aag	p.E105K	HUWE1_ENST00000218328.8_Missense_Mutation_p.E105K|HUWE1_ENST00000262854.6_Missense_Mutation_p.E105K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	105					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAGCTGTACTCAATGAGCAAG	0.443000													4	37					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43514860	43514860	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr18:43514860G>C	ENST00000282041.5	-	11	2206	c.2172C>G	c.(2170-2172)ttC>ttG	p.F724L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	724					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GCATGAGGTAGAAGAGCTTCC	0.547000													6	42					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47163190	47163190	+	Silent	SNP	C	C	T	rs143382306		TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:47163190C>T	ENST00000562435.1	-	3	561	c.177G>A	c.(175-177)tcG>tcA	p.S59S	NETO2_ENST00000303155.5_Silent_p.S59S	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	59	CUB 1.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GATAATTTGGCGAAGCAAAAT	0.378000										HNSCC(25;0.065)			9	158					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50293654	50293654	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:50293654G>A	ENST00000313601.6	+	5	879	c.495G>A	c.(493-495)caG>caA	p.Q165Q	GNAI2_ENST00000440628.1_Silent_p.Q113Q|GNAI2_ENST00000536647.1_Silent_p.Q84Q|GNAI2_ENST00000451956.1_Silent_p.Q128Q|GNAI2_ENST00000266027.5_Silent_p.Q149Q|GNAI2_ENST00000422163.1_Silent_p.Q149Q|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	165					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GTATTGCACAGAGTGACTACA	0.592000													4	26					0	0	1	0	0
NUS1	116150	broad.mit.edu	37	6	118015265	118015265	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:118015265C>G	ENST00000368494.3	+	3	782	c.613C>G	c.(613-615)Cag>Gag	p.Q205E		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	205					angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		AAGAGCTGCTCAGGACTTTTG	0.363000													4	124					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708184	29708184	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:29708184G>A	ENST00000406549.3	+	6	1213	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407647.2_3'UTR	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	372					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCAACCTGGGGACTCTGGCCG	0.667000													14	104					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148829	103148829	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:103148829C>T	ENST00000295269.4	+	12	2536	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	693					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						CCATCACGTTCAGCGCATGCT	0.453000													8	65					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215953284	215953284	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:215953284C>G	ENST00000366943.2	-	55	11226	c.10840G>C	c.(10840-10842)Gag>Cag	p.E3614Q	USH2A_ENST00000307340.3_Missense_Mutation_p.E3614Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3614	Fibronectin type-III 21.				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)		TTTGATTTCTCAGGGACACTC	0.537000										HNSCC(13;0.011)			6	57					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77883386	77883386	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:77883386G>A	ENST00000344720.5	+	8	1993	c.967G>A	c.(967-969)Gat>Aat	p.D323N	AK5_ENST00000354567.2_Missense_Mutation_p.D349N	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	349					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TACAGGATCTGATTATGAAGA	0.299000													7	46					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87760718	87760718	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:87760718C>G	ENST00000398204.4	+	11	1283	c.960C>G	c.(958-960)atC>atG	p.I320M	ADAM22_ENST00000398209.3_Missense_Mutation_p.I320M|ADAM22_ENST00000398201.4_Missense_Mutation_p.I320M|ADAM22_ENST00000265727.7_Missense_Mutation_p.I320M|ADAM22_ENST00000439864.1_Missense_Mutation_p.I320M|ADAM22_ENST00000315984.7_Missense_Mutation_p.I320M	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	320	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGGATTTTATCAAAGAGAAAA	0.358000													4	73					0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41834746	41834746	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr13:41834746C>T	ENST00000379480.4	-	2	398	c.298G>A	c.(298-300)Gag>Aag	p.E100K	MTRF1_ENST00000430347.2_Missense_Mutation_p.E113K|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_Missense_Mutation_p.E100K	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	100					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CGGTTTTCCTCATTCACAGGG	0.433000													5	114					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74497085	74497085	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr6:74497085C>T	ENST00000437994.2	+	21	2897	c.2466C>T	c.(2464-2466)atC>atT	p.I822I	CD109_ENST00000422508.2_Silent_p.I745I|CD109_ENST00000287097.5_Silent_p.I822I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	822						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTTTCCCATCAGGCCAACAC	0.428000													7	81					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669199	53669199	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:53669199C>T	ENST00000600412.1	-	2	464	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	ZNF665_ENST00000396424.3_Missense_Mutation_p.E182K			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCCACATTCATCACATTTA	0.378000													4	135					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67345032	67345032	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr18:67345032G>C	ENST00000382713.5	+	4	542	c.352G>C	c.(352-354)Gat>Cat	p.D118H	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	118							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGGCTCAATGATATCAGCCT	0.547000													4	55					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159557935	159557935	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:159557935G>C	ENST00000255040.2	+	2	206	c.109G>C	c.(109-111)Gat>Cat	p.D37H		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	37	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ATCTGTTACTGATCATGTAAA	0.423000													11	139					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161616	132161616	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:132161616C>T	ENST00000511190.1	-	6	1102	c.633G>A	c.(631-633)tcG>tcA	p.S211S	USP26_ENST00000370832.1_Silent_p.S211S|USP26_ENST00000406273.1_Silent_p.S211S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	211					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTACACACCTCGAACAATCTG	0.353000													4	99					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53383917	53383917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:53383917G>A	ENST00000595635.1	-	8	1963	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Nonsense_Mutation_p.Q488*	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GGAATTTTCTGATGTTCTGCA	0.388000													4	83					0	0	1	0	0
TEX37	200523	broad.mit.edu	37	2	88825923	88825923	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:88825923G>C	ENST00000303254.3	+	3	170	c.28G>C	c.(28-30)Gac>Cac	p.D10H		NM_152670.2	NP_689883.1			testis expressed 37																		TGTGCTTTAGGACCCTGTGGA	0.473000													6	66					0	0	1	0	0
IL13	3596	broad.mit.edu	37	5	131995944	131995944	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:131995944G>A	ENST00000304506.3	+	4	425	c.411G>A	c.(409-411)aaG>aaA	p.K137K	IL13_ENST00000468334.1_3'UTR|AC004041.2_ENST00000435042.1_RNA	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	137					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACATTTAAAGAAACTTTTTC	0.433000													4	35					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618536	37618536	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr21:37618536G>A	ENST00000399151.3	+	19	4343	c.4258G>A	c.(4258-4260)Gag>Aag	p.E1420K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1420					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGCCTCTTTGAGGAGAGTCT	0.602000													5	50					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63970046	63970046	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr15:63970046G>A	ENST00000443617.2	-	37	7155	c.7068C>T	c.(7066-7068)atC>atT	p.I2356I	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2356					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GATCATACCTGATAGTAATTT	0.448000													7	121					0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31803058	31803058	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr21:31803058C>G	ENST00000334068.2	+	1	487	c.465C>G	c.(463-465)ttC>ttG	p.F155L		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	155						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GATCTCGCTTCTATCAATTCA	0.428000													6	115					0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3118977	3118977	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:3118977G>C	ENST00000078429.4	+	5	903	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	221					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CCACTGCTTTGAGAACGTGAC	0.627000			Mis		uveal melanoma								4	65					0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29311734	29311734	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:29311734C>T	ENST00000328381.5	+	2	1345	c.472C>T	c.(472-474)Cta>Tta	p.L158L	RNF135_ENST00000443677.2_Intron|RNF135_ENST00000535306.2_Silent_p.L158L|RNF135_ENST00000324689.4_Silent_p.L158L	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	158					innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TCAGAGGCCCCTATCAGAATC	0.522000													7	69					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85724606	85724606	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr4:85724606G>A	ENST00000322366.6	-	16	2851	c.2444C>T	c.(2443-2445)tCt>tTt	p.S815F	WDFY3_ENST00000512267.1_5'UTR|WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Missense_Mutation_p.S815F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	815						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTTGAAACAGAATGATATGC	0.373000													4	39					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699802	48699802	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:48699802C>T	ENST00000544264.1	-	1	546	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.R89Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	89					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTTCTCCCTCGGAGCCCCAC	0.662000													4	86					0	0	1	0	0
NAP1L1	4673	broad.mit.edu	37	12	76462752	76462752	+	Nonsense_Mutation	SNP	G	G	A	rs138832974		TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:76462752G>A	ENST00000261182.8	-	3	526	c.40C>T	c.(40-42)Caa>Taa	p.Q14*	NAP1L1_ENST00000535020.2_Nonsense_Mutation_p.Q14*|NAP1L1_ENST00000548044.1_5'UTR|NAP1L1_ENST00000542344.1_Intron|NAP1L1_ENST00000431879.3_5'UTR|NAP1L1_ENST00000549596.1_Nonsense_Mutation_p.Q14*|NAP1L1_ENST00000552342.1_Nonsense_Mutation_p.Q14*|NAP1L1_ENST00000544816.1_Intron|NAP1L1_ENST00000547773.1_Intron|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.Q14*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	14	Asp/Glu-rich (acidic).				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TCCAAATCTTGATCAAGTTCA	0.318000													20	174					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40681191	40681191	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:40681191C>G	ENST00000298910.7	+	20	2597	c.2539C>G	c.(2539-2541)Cag>Gag	p.Q847E	LRRK2_ENST00000343742.2_Missense_Mutation_p.Q847E	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	847					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GATCAGATATCAGATGAAAAG	0.358000													10	72					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154616	22154616	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:22154616C>T	ENST00000397126.4	-	4	3368	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCCTTATGTTCAGTAAGTCTT	0.443000													9	177					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20107960	20107960	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr17:20107960C>G	ENST00000395530.2	+	2	563	c.355C>G	c.(355-357)Ctg>Gtg	p.L119V	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Missense_Mutation_p.L200V|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000261503.5_Missense_Mutation_p.L200V|SPECC1_ENST00000395527.4_Missense_Mutation_p.L200V|SPECC1_ENST00000395525.3_Missense_Mutation_p.L119V|SPECC1_ENST00000395522.2_Missense_Mutation_p.L119V	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	200						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GAAAAGGACTCTGAACGCTGA	0.453000													5	146					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152418632	152418632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:152418632G>A	ENST00000397345.3	-	121	19190	c.18988C>T	c.(18988-18990)Cag>Tag	p.Q6330*	NEB_ENST00000603639.1_Nonsense_Mutation_p.Q6330*|NEB_ENST00000172853.10_Nonsense_Mutation_p.Q4629*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q6330*|NEB_ENST00000427231.2_Nonsense_Mutation_p.Q6330*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Q4629*	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	6335					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACCTGACTCTGAAGGTCGTAT	0.483000													7	154					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51224300	51224300	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr14:51224300C>G	ENST00000245441.5	-	18	3638	c.3448G>C	c.(3448-3450)Gat>Cat	p.D1150H	NIN_ENST00000453196.1_Missense_Mutation_p.D1150H|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.D1150H|NIN_ENST00000530997.2_Missense_Mutation_p.D1150H|NIN_ENST00000382041.3_Missense_Mutation_p.D1150H|NIN_ENST00000382043.4_Intron	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1150				D -> G (in Ref. 1; AAF23015).	centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CGGACCTCATCATCTTCCAGG	0.488000			T	PDGFRB	MPD								8	125					0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	121013840	121013840	+	Silent	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr8:121013840G>T	ENST00000286234.5	+	5	811	c.681G>T	c.(679-681)ctG>ctT	p.L227L	DEPTOR_ENST00000523492.1_Silent_p.L126L|DEPTOR_ENST00000518057.1_3'UTR	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	227					intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						GGCGAAGACTGATGGAGCTGC	0.498000													4	50					0.184627	0.185609	1	1	0
ZNF607	84775	broad.mit.edu	37	19	38190188	38190188	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr19:38190188C>T	ENST00000355202.4	-	5	1439	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	ZNF607_ENST00000395835.3_Missense_Mutation_p.E281K|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCCTTACATTCATGTGGCTTC	0.428000													5	59					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109200140	109200140	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr12:109200140G>A	ENST00000326495.5	-	9	855	c.762C>T	c.(760-762)ctC>ctT	p.L254L	SSH1_ENST00000326470.5_Silent_p.L265L|SSH1_ENST00000551165.1_Silent_p.L254L|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	254					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCTTTGATGAGGCGCTCGG	0.507000													10	157					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941916	144941916	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr8:144941916C>G	ENST00000525985.1	-	2	5577	c.5506G>C	c.(5506-5508)Gaa>Caa	p.E1836Q				P58107	EPIPL_HUMAN	epiplakin 1	1836						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGTTTCTTCAATTGTCGTG	0.532000													11	195					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979862	58979862	+	Silent	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:58979862G>C	ENST00000361050.3	-	1	562	c.477C>G	c.(475-477)gtC>gtG	p.V159V		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	159	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGTTGATTTTGACTGTGTAGA	0.473000													5	90					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990603	39990603	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:39990603C>G	ENST00000332312.3	-	4	1798	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	536						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCCTTCACCTCTGCCACGAGG	0.642000													9	66					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37690567	37690567	+	Silent	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr8:37690567C>T	ENST00000315215.7	+	9	1500	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	GPR124_ENST00000412232.2_Silent_p.S379S			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	379					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCTACCAGTCCTGCCTGCAGT	0.692000													7	90					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18896886	18896886	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:18896886G>C	ENST00000446231.2	-	7	1337	c.925C>G	c.(925-927)Cat>Gat	p.H309D	SMG1_ENST00000565224.1_Missense_Mutation_p.H283D|SMG1_ENST00000389467.3_Missense_Mutation_p.H309D			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	309	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTGAAAATATGAGGGTAACAT	0.428000													4	85					0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21201763	21201763	+	Silent	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr9:21201763C>G	ENST00000239347.3	-	1	441	c.402G>C	c.(400-402)ctG>ctC	p.L134L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	134					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCATTCATCAGGGGAGTCT	0.453000													19	287					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190863	209190863	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:209190863C>G	ENST00000264380.4	+	20	3486	c.3328C>G	c.(3328-3330)Ctc>Gtc	p.L1110V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1110					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GCTCAGGGATCTCTCTGGACT	0.453000													4	62					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684965	44684965	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:44684965G>C	ENST00000396058.1	+	5	2510	c.2343G>C	c.(2341-2343)aaG>aaC	p.K781N	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.K781N|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	781					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TTGAGCATAAGAGAATCCACA	0.453000													12	70					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47772741	47772741	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr11:47772741G>C	ENST00000263773.5	-	5	751	c.739C>G	c.(739-741)Caa>Gaa	p.Q247E	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	247	WW 1.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCAAGATATTGGGGTAACTCC	0.408000													10	76					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281420	145281420	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:145281420G>T	ENST00000369340.3	+	5	794	c.350G>T	c.(349-351)gGa>gTa	p.G117V	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G117V|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G117V|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G117V			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	117	EGF-like 4.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGTGCAAATGGAAGTACCTGT	0.493000													13	524					7.81268e-19	8.51883e-19	1	1	0
DPY19L1	23333	broad.mit.edu	37	7	35050167	35050167	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:35050167C>T	ENST00000310974.4	-	6	602	c.458G>A	c.(457-459)gGa>gAa	p.G153E		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	153						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AGCAGGATCTCCCAATCCTTT	0.264000													7	58					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507465	219507465	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr2:219507465G>T	ENST00000411696.2	-	7	4553	c.3774C>A	c.(3772-3774)ttC>ttA	p.F1258L	ZNF142_ENST00000449707.1_Missense_Mutation_p.F1258L			P52746	ZN142_HUMAN	zinc finger protein 142	1258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAAGTGGACAGAAGTGGGTAG	0.552000													7	65					1.06961e-07	1.14213e-07	1	1	0
CHD6	84181	broad.mit.edu	37	20	40053968	40053968	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr20:40053968C>G	ENST00000373233.3	-	29	4373	c.4196G>C	c.(4195-4197)aGa>aCa	p.R1399T		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1399					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GACCAGACGTCTGAGACGAGC	0.527000													4	36					0	0	1	0	0
GNAI1	2770	broad.mit.edu	37	7	79828562	79828562	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:79828562G>A	ENST00000351004.3	+	4	698	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	GNAI1_ENST00000457358.2_Missense_Mutation_p.V57M	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	109					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						CCAACTCTTTGTGCTAGCTGG	0.398000													17	86					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32874970	32874970	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr22:32874970C>T	ENST00000266087.7	+	2	452	c.125C>T	c.(124-126)tCt>tTt	p.S42F	FBXO7_ENST00000382058.3_Intron|FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_5'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	42					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTGGCAGTTCTAATACCCGA	0.393000													6	84					0	0	1	0	0
ACBD7	414149	broad.mit.edu	37	10	15120965	15120965	+	Silent	SNP	G	G	C	rs11598719		TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr10:15120965G>C	ENST00000356189.5	-	2	134	c.87C>G	c.(85-87)ctC>ctG	p.L29L	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	29	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						AAAGCCCATAGAGTTCTTTCA	0.313000													5	77					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31983537	31983537	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr5:31983537G>A	ENST00000438447.1	+	3	1141	c.753G>A	c.(751-753)gaG>gaA	p.E251E	PDZD2_ENST00000282493.3_Silent_p.E251E			O15018	PDZD2_HUMAN	PDZ domain containing 2	251					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGAGCTGGAGAACGGCCCTG	0.577000													35	60					0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44104994	44104994	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr7:44104994G>C	ENST00000297283.3	-	1	192	c.135C>G	c.(133-135)atC>atG	p.I45M	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	45					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						TGGCATCCTTGATGGCCTTGG	0.602000													5	67					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47717303	47717303	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr1:47717303C>T	ENST00000360380.3	-	18	3732	c.3369G>A	c.(3367-3369)atG>atA	p.M1123I	STIL_ENST00000371877.3_Missense_Mutation_p.M1124I|STIL_ENST00000396221.2_Missense_Mutation_p.M1106I|STIL_ENST00000337817.5_Missense_Mutation_p.M1123I|STIL_ENST00000243182.6_Missense_Mutation_p.M1123I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1123					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CATATCTCTTCATATATTTTT	0.388000													11	125					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137956210	137956210	+	Silent	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr3:137956210G>A	ENST00000469044.1	+	8	940	c.669G>A	c.(667-669)tcG>tcA	p.S223S	ARMC8_ENST00000538260.1_Silent_p.S192S|ARMC8_ENST00000485396.1_Silent_p.S150S|ARMC8_ENST00000471453.1_Silent_p.S209S|ARMC8_ENST00000491704.1_Silent_p.S181S|ARMC8_ENST00000461822.1_Silent_p.S223S|ARMC8_ENST00000489213.1_Silent_p.S181S|ARMC8_ENST00000481646.1_Silent_p.S209S|ARMC8_ENST00000393058.3_Silent_p.S213S|ARMC8_ENST00000358441.2_Silent_p.S209S|ARMC8_ENST00000470821.1_Silent_p.S223S	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	223							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CCCAGGTATCGATGACCCTGG	0.333000													6	93					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50123017	50123017	+	RNA	SNP	G	G	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:50123017G>A	ENST00000376025.2	-	0	2775							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTGTAAGAGCGCTGCAAAAGT	0.463000													14	98					0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95877773	95877773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr8:95877773delG	ENST00000523731.1	+	17	2249	c.2116delG	c.(2116-2118)ggcfs	p.G706fs	INTS8_ENST00000447247.1_Frame_Shift_Del_p.G706fs|INTS8_ENST00000520845.1_Intron	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	706					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGAACTTCCAGGCCCTAAAGA	0.403													7	120	---	---	---	---					
NPIPB5	100132247	broad.mit.edu	37	16	22545666	22545684	+	Frame_Shift_Del	DEL	TGAGCGTCTGCGGGGGCCG	TGAGCGTCTGCGGGGGCCG	-			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chr16:22545666_22545684delTGAGCGTCTGCGGGGGCCG	ENST00000424340.1	+	7	1641_1659	c.1362_1380delTGAGCGTCTGCGGGGGCCG	c.(1360-1380)gctgagcgtctgcgggggccgfs	p.AERLRGP454fs	NPIPB5_ENST00000517539.1_Frame_Shift_Del_p.AERLRGP454fs|NPIPB5_ENST00000415654.1_3'UTR	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		AGACACCTGCTGAGCGTCTGCGGGGGCCGCTTCCACCCT	0.557													3	4	---	---	---	---					
CSTF2	1478	broad.mit.edu	37	X	100086620	100086621	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XF-A9SI-01A-11D-A391-08	TCGA-XF-A9SI-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39cbcc1a-e951-4f72-8d0a-617e3e088bcb	d06eff22-2926-4063-8d74-ce87cc1ac586	g.chrX:100086620_100086621insA	ENST00000415585.2	+	10	1088_1089	c.1066_1067insA	c.(1066-1068)tctfs	p.S356fs	CSTF2_ENST00000372972.2_Frame_Shift_Ins_p.S336fs			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	336	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CACTTTACTTTCTGTAACTGGA	0.485													10	96	---	---	---	---