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
ZBTB11	27107	broad.mit.edu	37	3	101370486	101370486	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:101370486C>T	ENST00000312938.4	-	11	3266	c.2686G>A	c.(2686-2688)Gct>Act	p.A896T		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	896					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A896T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGGGCATCAGCCCAAGCTACT	0.418000													34	37					0	0	0.064281	0	0
CSF1	1435	broad.mit.edu	37	1	110466096	110466096	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:110466096G>A	ENST00000329608.6	+	6	1244	c.853G>A	c.(853-855)Ggg>Agg	p.G285R	CSF1_ENST00000369801.1_Missense_Mutation_p.G285R|CSF1_ENST00000344188.5_Missense_Mutation_p.G285R|CSF1_ENST00000369802.3_Missense_Mutation_p.G285R|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	285					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	p.G285R(1)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCCTCTGTCGGGGCCTTCAA	0.612000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	28					0	0	0.050027	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276879	15276879	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:15276879C>A	ENST00000263388.2	-	30	5461	c.5386G>T	c.(5386-5388)Gct>Tct	p.A1796S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1796					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.A1796S(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGAAGGAAGCCAGCATTAGC	0.552000													16	23					3.45872e-05	3.67659e-05	0.028581	1	0
EDEM1	9695	broad.mit.edu	37	3	5248946	5248946	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:5248946C>A	ENST00000256497.4	+	7	1459	c.1326C>A	c.(1324-1326)ttC>ttA	p.F442L	EDEM1_ENST00000445686.1_Missense_Mutation_p.F247L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.F442L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGGCCTTTTTCCCTGGACTGC	0.458000													42	49					5.44703e-19	6.39434e-19	0.111260	1	0
MS4A6A	64231	broad.mit.edu	37	11	59939727	59939727	+	Splice_Site	SNP	C	C	G	rs140130948	byFrequency	TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr11:59939727C>G	ENST00000323961.3	-	7	889		c.e7-1		MS4A6A_ENST00000529054.1_Splice_Site|MS4A6A_ENST00000426738.2_3'UTR|MS4A6A_ENST00000420732.2_Splice_Site|MS4A6A_ENST00000530839.1_Splice_Site|MS4A6A_ENST00000528851.1_3'UTR	NM_152851.2	NP_690590.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A							integral to membrane	receptor activity	p.?(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAAGTACACTCTAGAAGAAAC	0.338000													41	44					0	0	0.111260	0	0
TOB1	10140	broad.mit.edu	37	17	48940623	48940623	+	Silent	SNP	T	T	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:48940623T>C	ENST00000499247.2	-	2	1189	c.756A>G	c.(754-756)ccA>ccG	p.P252P	TOB1_ENST00000268957.3_Silent_p.P252P	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	252	Poly-Pro.				negative regulation of cell proliferation		SH3/SH2 adaptor activity	p.P252P(2)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			gtggtggtggtggcggtggcg	0.522000													3	34					0	0	0.004672	0	0
FZD1	8321	broad.mit.edu	37	7	90895308	90895308	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr7:90895308C>T	ENST00000287934.2	+	1	1526	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	371					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	p.A371A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTACATCGCCGGCTTCCTCC	0.632000													29	64					0	0	0.041601	0	0
LILRB1	10859	broad.mit.edu	37	19	55085555	55085555	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:55085555G>A	ENST00000396321.2	+	2	47	c.47G>A	c.(46-48)gGc>gAc	p.G16D	LILRA2_ENST00000391737.1_Intron|LILRB1_ENST00000418536.2_Missense_Mutation_p.G16D|LILRA2_ENST00000251377.3_Missense_Mutation_p.G16D|LILRA2_ENST00000391738.3_Missense_Mutation_p.G16D|LILRB1_ENST00000448689.1_Missense_Mutation_p.G16D|LILRA2_ENST00000251376.3_Missense_Mutation_p.G16D|LILRA2_ENST00000495786.1_3'UTR			Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	16					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.G16D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTGAGTCTGGGCCCCAGGACC	0.647000										HNSCC(37;0.09)			31	53					0	0	0.041601	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791438	34791438	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:34791438C>T	ENST00000299505.6	+	2	933	c.60C>T	c.(58-60)ggC>ggT	p.G20G		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	20								p.G20G(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCCTGCTTGGCGGGTCCAAGC	0.622000													3	43					0	0	0.004672	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396624	38396624	+	Silent	SNP	C	C	T	rs141592792		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:38396624C>T	ENST00000377698.3	+	2	1032	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	293					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.I293I(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GCCCCAGCATCGTGCTGGCCG	0.617000													26	33					0	0	0.108266	0	0
FKBP15	23307	broad.mit.edu	37	9	115936807	115936807	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:115936807C>G	ENST00000238256.3	-	22	2397	c.2280G>C	c.(2278-2280)gaG>gaC	p.E760D		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	760					endocytosis|protein folding	axon|early endosome	actin binding	p.E760D(1)|p.E785D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTTCATCTATCTCCTCCTCGG	0.468000													59	15					0	0	0.048971	0	0
ZNF532	55205	broad.mit.edu	37	18	56587489	56587489	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr18:56587489A>C	ENST00000336078.4	+	4	2746	c.1970A>C	c.(1969-1971)aAc>aCc	p.N657T	ZNF532_ENST00000591230.1_Missense_Mutation_p.N657T|ZNF532_ENST00000589288.1_Missense_Mutation_p.N657T|ZNF532_ENST00000591808.1_Missense_Mutation_p.N657T|ZNF532_ENST00000591083.1_Missense_Mutation_p.N657T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N657T(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GTTTTTTACAACAAATGCAGC	0.478000													3	60					0	0	0.004672	0	0
GRM7	2917	broad.mit.edu	37	3	7721860	7721860	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:7721860G>A	ENST00000486284.1	+	9	2850	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	GRM7_ENST00000402647.2_Missense_Mutation_p.R859Q|GRM7_ENST00000357716.4_Missense_Mutation_p.R859Q|GRM7_ENST00000403881.1_Missense_Mutation_p.R859Q|GRM7_ENST00000389336.4_Missense_Mutation_p.R859Q	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	859					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.R859Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTCCAGAAACGGAAGCGAAGC	0.517000													22	26					0	0	0.069288	0	0
CLEC16A	23274	broad.mit.edu	37	16	11114144	11114144	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:11114144C>T	ENST00000409790.1	+	12	1628	c.1398C>T	c.(1396-1398)agC>agT	p.S466S	CLEC16A_ENST00000409552.3_Silent_p.S448S	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	466								p.S466S(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGAGAAAAGCGCCGCCGCCA	0.617000													4	16					0	0	0.009096	0	0
EIF4G2	1982	broad.mit.edu	37	11	10821251	10821251	+	Silent	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr11:10821251C>G	ENST00000526148.1	-	19	2682	c.2172G>C	c.(2170-2172)ctG>ctC	p.L724L	EIF4G2_ENST00000525681.1_Silent_p.L724L|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.L686L|EIF4G2_ENST00000339995.5_Silent_p.L724L	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	724	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.L724L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATAAGAAACTCAGTCCCTTTC	0.378000													40	45					0	0	0.111260	0	0
RPH3A	22895	broad.mit.edu	37	12	113304588	113304588	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:113304588G>C	ENST00000389385.4	+	7	884	c.387G>C	c.(385-387)gaG>gaC	p.E129D	RPH3A_ENST00000420983.2_Missense_Mutation_p.E129D|RPH3A_ENST00000543106.2_Missense_Mutation_p.E129D|RPH3A_ENST00000447659.2_Missense_Mutation_p.E80D|RPH3A_ENST00000551052.1_Missense_Mutation_p.E125D|RPH3A_ENST00000415485.3_Missense_Mutation_p.E129D|RPH3A_ENST00000548866.1_Missense_Mutation_p.E80D	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	129	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.E125D(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCGGAGTGGAGACCAACAACC	0.562000													3	16					0	0	0.004672	0	0
TERC	7012	broad.mit.edu	37	3	169482464	169482464	+	RNA	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:169482464C>A	ENST00000602385.1	-	0	384					NR_001566.1																						CGCGGGGACTCGCTCCGTTCC	0.672000									Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				14	8					9.05144e-12	1.01829e-11	0.105934	1	0
ABCC11	85320	broad.mit.edu	37	16	48250187	48250187	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:48250187G>C	ENST00000394747.1	-	6	1138	c.789C>G	c.(787-789)ttC>ttG	p.F263L	ABCC11_ENST00000356608.2_Missense_Mutation_p.F263L|ABCC11_ENST00000353782.5_Missense_Mutation_p.F263L|ABCC11_ENST00000537808.1_Missense_Mutation_p.F263L|ABCC11_ENST00000394748.1_Missense_Mutation_p.F263L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	263	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F263L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CACCGGTGAAGAAGCTGATGG	0.552000													49	50					0	0	0.048971	0	0
VAV3	10451	broad.mit.edu	37	1	108145726	108145726	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:108145726C>A	ENST00000370056.4	-	23	2349	c.2075G>T	c.(2074-2076)aGt>aTt	p.S692I	VAV3_ENST00000415432.2_Missense_Mutation_p.S132I|VAV3_ENST00000527011.1_Missense_Mutation_p.S692I|VAV3_ENST00000544443.1_Missense_Mutation_p.S96I|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	692	SH2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.S132I(1)|p.S692I(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAGGTAAGTACTATTTACCCT	0.353000													4	96					0.00024832	0.0002619	0.009096	1	0
NEO1	4756	broad.mit.edu	37	15	73528817	73528817	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr15:73528817C>G	ENST00000339362.5	+	9	1868	c.1421C>G	c.(1420-1422)tCt>tGt	p.S474C	NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Missense_Mutation_p.S474C|NEO1_ENST00000560262.1_Missense_Mutation_p.S474C|NEO1_ENST00000261908.6_Missense_Mutation_p.S474C			Q92859	NEO1_HUMAN	neogenin 1	474	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.S474Y(1)|p.S474C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTTACCTACTCTGTGTTCTAC	0.567000													33	55					0	0	0.080422	0	0
WNK3	65267	broad.mit.edu	37	X	54259293	54259293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:54259293G>A	ENST00000354646.2	-	21	5227	c.4789C>T	c.(4789-4791)Cga>Tga	p.R1597*	WNK3_ENST00000375159.2_Nonsense_Mutation_p.R1597*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.R1550*	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1550					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.R1597*(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGGCGGCTTCGAAGTTTGCTT	0.418000													43	39					0	0	0.048971	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561646	11561646	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:11561646G>C	ENST00000294484.6	+	2	735	c.597G>C	c.(595-597)cgG>cgC	p.R199R	PTCHD2_ENST00000389575.3_Silent_p.R199R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	199					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.R416R(1)		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)		CAGCCAATCGGAGCGGGCGAC	0.687000													7	6					0	0	0.038147	0	0
H1F0	3005	broad.mit.edu	37	22	38201996	38201996	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:38201996A>C	ENST00000340857.2	+	1	883	c.445A>C	c.(445-447)Aag>Cag	p.K149Q		NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	149					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding	p.K149Q(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					GGCCAAGAAGAAGCTGGCTGC	0.547000													35	25					0	0	0.059317	0	0
YIPF1	54432	broad.mit.edu	37	1	54332522	54332522	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:54332522C>G	ENST00000072644.1	-	8	893	c.557G>C	c.(556-558)aGa>aCa	p.R186T	YIPF1_ENST00000371399.1_Missense_Mutation_p.R3T|YIPF1_ENST00000539954.1_Missense_Mutation_p.R211T|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	186						integral to membrane|transport vesicle		p.R186T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TTTGCTGTTTCTCCACATGAG	0.458000													23	28					0	0	0.076483	0	0
DCC	1630	broad.mit.edu	37	18	50985745	50985745	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr18:50985745C>A	ENST00000442544.2	+	24	4152	c.3536C>A	c.(3535-3537)cCc>cAc	p.P1179H	DCC_ENST00000581580.1_Missense_Mutation_p.P814H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1179					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P1179H(1)		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)		AGGGACTCTCCCATCCAAAGT	0.478000													55	64					2.40265e-35	2.89605e-35	0.048971	1	0
PCDHAC1	56135	broad.mit.edu	37	5	140306671	140306671	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr5:140306671A>G	ENST00000253807.2	+	1	194	c.194A>G	c.(193-195)tAc>tGc	p.Y65C	PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.Y65C|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018898.3	NP_061721.2												p.Y65C(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGAGCTCTACTTCGGGGTG	0.637000													29	12					0	0	0.045705	0	0
DENND3	22898	broad.mit.edu	37	8	142151335	142151335	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr8:142151335C>T	ENST00000519811.1	+	4	605	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	DENND3_ENST00000262585.2_Missense_Mutation_p.R99W|DENND3_ENST00000424248.1_Missense_Mutation_p.R99W|DENND3_ENST00000518347.1_Missense_Mutation_p.R179W			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	99	DENN.							p.R99W(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAAACGCACCGGGAGTGTCC	0.537000													5	57					0	0	0.014758	0	0
SENP7	57337	broad.mit.edu	37	3	101085458	101085458	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:101085458C>G	ENST00000394095.2	-	9	1187	c.1134G>C	c.(1132-1134)ttG>ttC	p.L378F	SENP7_ENST00000394094.2_Missense_Mutation_p.L313F|SENP7_ENST00000314261.7_Missense_Mutation_p.L312F|SENP7_ENST00000348610.3_Missense_Mutation_p.L345F|SENP7_ENST00000394091.1_Missense_Mutation_p.L214F|SENP7_ENST00000358203.3_Missense_Mutation_p.L214F	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	378					proteolysis	nucleus	cysteine-type peptidase activity	p.L312F(1)|p.L378F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGCATTACTCAAAGTCAACT	0.403000													34	41					0	0	0.074837	0	0
DYSF	8291	broad.mit.edu	37	2	71748031	71748031	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:71748031G>A	ENST00000258104.3	+	11	1327	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A	DYSF_ENST00000409651.1_Silent_p.A382A|DYSF_ENST00000410020.3_Silent_p.A382A|DYSF_ENST00000409582.3_Silent_p.A381A|DYSF_ENST00000409366.1_Silent_p.A351A|DYSF_ENST00000394120.2_Silent_p.A351A|DYSF_ENST00000429174.2_Silent_p.A350A|DYSF_ENST00000410041.1_Silent_p.A382A|DYSF_ENST00000413539.2_Silent_p.A381A|DYSF_ENST00000409744.1_Silent_p.A351A|DYSF_ENST00000409762.1_Silent_p.A381A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	350						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.A350A(1)|p.A382A(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGGACGAAGCGCCTGTGAGTA	0.542000													17	28					0	0	0.033300	0	0
EDEM1	9695	broad.mit.edu	37	3	5251877	5251877	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:5251877C>G	ENST00000256497.4	+	9	1660	c.1527C>G	c.(1525-1527)ttC>ttG	p.F509L	EDEM1_ENST00000445686.1_Missense_Mutation_p.F314L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	509					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.F509L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGAATCCCTTCTACCTCCATG	0.448000													31	50					0	0	0.064281	0	0
MMP9	4318	broad.mit.edu	37	20	44640373	44640373	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:44640373C>A	ENST00000372330.3	+	6	1003	c.984C>A	c.(982-984)ttC>ttA	p.F328L		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	328	Fibronectin type-II 2.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.F328L(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCTTCGGCTTCTGCCCGACCC	0.637000											OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	30					1.12685e-05	1.20734e-05	0.047766	1	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727255	25727255	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:25727255C>G	ENST00000274764.2	+	1	119	c.119C>G	c.(118-120)tCt>tGt	p.S40C		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	40					nucleosome assembly	nucleosome|nucleus	DNA binding	p.S40C(1)		breast(1)|kidney(1)	2						GAGAGTTATTCTATTTACATC	0.428000													38	20					0	0	0.080422	0	0
EPHA10	284656	broad.mit.edu	37	1	38197144	38197144	+	Silent	SNP	C	C	T	rs77925917	by1000genomes	TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:38197144C>T	ENST00000373048.4	-	7	1601	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.P29P|EPHA10_ENST00000427468.2_Silent_p.P534P|EPHA10_ENST00000540011.1_Silent_p.P29P	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	534	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.P535P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGATGGCCCCGGGGAAGCGG	0.597000													30	63					0	0	0.059317	0	0
NOB1	28987	broad.mit.edu	37	16	69776441	69776441	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:69776441G>A	ENST00000268802.5	-	9	1062	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	345						nucleus	metal ion binding|protein binding	p.R345C(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGAGGGAAGCGCTGATCCTCG	0.552000													33	37					0	0	0.069456	0	0
LAMA3	3909	broad.mit.edu	37	18	21357556	21357556	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr18:21357556G>C	ENST00000313654.9	+	11	1682	c.1441G>C	c.(1441-1443)Gaa>Caa	p.E481Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.E481Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	481	Domain V.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.E481Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCAAGTTCAGAAGATCCAGT	0.343000													32	64					0	0	0.064281	0	0
RIMKLB	57494	broad.mit.edu	37	12	8926379	8926379	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:8926379G>C	ENST00000357529.3	+	7	2422	c.1160G>C	c.(1159-1161)tGa>tCa	p.*387S	RIMKLB_ENST00000535829.1_Nonstop_Mutation_p.*387S|RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000538135.1_Nonstop_Mutation_p.*387S	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	0					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	p.*387S(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGGTGGACTGACTCCACTGG	0.458000													53	58					0	0	0.048971	0	0
DCC	1630	broad.mit.edu	37	18	50923757	50923757	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr18:50923757C>A	ENST00000442544.2	+	18	3384	c.2768C>A	c.(2767-2769)aCa>aAa	p.T923K	DCC_ENST00000412726.1_Missense_Mutation_p.T751K|DCC_ENST00000581580.1_Missense_Mutation_p.T558K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	923	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.T923K(1)		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)		GTCATGGTAACAAAAAACAGA	0.423000													4	68					0.00909568	0.00944551	0.009096	1	0
MACF1	23499	broad.mit.edu	37	1	39818900	39818900	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:39818900G>A	ENST00000564288.1	+	44	12198	c.11421G>A	c.(11419-11421)atG>atA	p.M3807I	MACF1_ENST00000361689.2_Missense_Mutation_p.M1745I|MACF1_ENST00000289893.4_Missense_Mutation_p.M2247I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.M1745I|MACF1_ENST00000317713.7_Missense_Mutation_p.M1745I|MACF1_ENST00000545844.1_Missense_Mutation_p.M1745I|MACF1_ENST00000567887.1_Missense_Mutation_p.M3844I|MACF1_ENST00000372915.3_Missense_Mutation_p.M3812I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3812					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.M2247I(1)|p.M1745I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGAGATGATGAAGGTAAGGG	0.493000													9	11					0	0	0.047766	0	0
SPACA7	122258	broad.mit.edu	37	13	113053427	113053427	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr13:113053427C>A	ENST00000375699.3	+	3	368	c.196C>A	c.(196-198)Cat>Aat	p.H66N	SPACA7_ENST00000283550.3_Missense_Mutation_p.H97N			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	97						extracellular region		p.H97N(1)		large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TGAGAATTACCATGAATTATT	0.373000													17	32					3.41278e-10	3.71553e-10	0.033300	1	0
EPRS	2058	broad.mit.edu	37	1	220162081	220162081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:220162081G>A	ENST00000366923.3	-	19	2895	c.2626C>T	c.(2626-2628)Cag>Tag	p.Q876*		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	876	3 X 57 AA approximate repeats.|WHEP-TRS 2.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	p.Q876*(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AATGGGGGCTGACCAGGTATG	0.403000													66	62					0	0	0.048971	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910483	101910483	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:101910483G>C	ENST00000537097.1	+	6	2455	c.1642G>C	c.(1642-1644)Gag>Cag	p.E548Q	GPRASP1_ENST00000361600.5_Missense_Mutation_p.E548Q|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E548Q|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E548Q	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	548	Glu-rich.					cytoplasm	protein binding	p.E548Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGAGGAAGAAGAGGTCATTGG	0.517000													68	16					0	0	0.048971	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597445	31597445	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:31597445C>A	ENST00000376033.2	+	14	2311	c.2077C>A	c.(2077-2079)Cca>Aca	p.P693T	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P693T	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	693	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.P693T(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGTGCCAGCTCCACAGGCTCC	0.667000													25	41					7.92952e-12	8.99568e-12	0.091800	1	0
CLUH	23277	broad.mit.edu	37	17	2598209	2598209	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:2598209C>T	ENST00000570628.2	-	16	2782	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	CLUH_ENST00000435359.1_Missense_Mutation_p.E893K|CLUH_ENST00000538975.1_Missense_Mutation_p.E893K					clustered mitochondria (cluA/CLU1) homolog									p.E894K(2)									TTCCAGAGCTCCTGGGGGGTC	0.632000													7	0					0	0	0.029380	0	0
RAVER2	55225	broad.mit.edu	37	1	65247172	65247172	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:65247172G>A	ENST00000294428.3	+	4	974	c.896G>A	c.(895-897)gGc>gAc	p.G299D	RAVER2_ENST00000430964.2_Missense_Mutation_p.G5D|RAVER2_ENST00000371072.4_Missense_Mutation_p.G299D			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	299	RRM 3.					cytoplasm|nucleus	nucleotide binding|RNA binding	p.G299D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACCATCAAGGGCAGCAAAGTC	0.517000													35	49					0	0	0.054565	0	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230916	77230916	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr4:77230916C>T	ENST00000237642.6	+	2	1584	c.840C>T	c.(838-840)ttC>ttT	p.F280F	FAM47E-STBD1_ENST00000539752.1_Silent_p.F131F|FAM47E_ENST00000515604.1_3'UTR	NM_003943.4	NP_003934.1												p.F280F(1)									ATGTGCAATTCATTGCAGTAA	0.473000													21	25					0	0	0.069288	0	0
ITGA7	3679	broad.mit.edu	37	12	56088080	56088080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:56088080G>A	ENST00000257880.7	-	19	2743	c.2524C>T	c.(2524-2526)Cga>Tga	p.R842*	ITGA7_ENST00000452168.2_Nonsense_Mutation_p.R705*|ITGA7_ENST00000555728.1_Nonsense_Mutation_p.R842*|ITGA7_ENST00000394230.2_Nonsense_Mutation_p.R802*|ITGA7_ENST00000394229.2_Nonsense_Mutation_p.R798*|ITGA7_ENST00000347027.6_Nonsense_Mutation_p.R792*|ITGA7_ENST00000257879.6_Nonsense_Mutation_p.R798*|ITGA7_ENST00000553804.1_Nonsense_Mutation_p.R802*			Q13683	ITA7_HUMAN	integrin, alpha 7	842					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.R798*(1)|p.R802*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACACGGGCTCGTGCAGAGACT	0.602000													118	77					0	0	0.048971	0	0
EPHB3	2049	broad.mit.edu	37	3	184295484	184295484	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:184295484C>T	ENST00000330394.2	+	7	1970	c.1518C>T	c.(1516-1518)aaC>aaT	p.N506N	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	506	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.N506N(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCAGATGAACTCCGTGCAGC	0.657000													37	42					0	0	0.080422	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53721797	53721797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:53721797C>G	ENST00000262135.4	-	5	703	c.610G>C	c.(610-612)Gcc>Ccc	p.A204P	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.A204P|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.A204P|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.A204P	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	204					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.A204P(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTCCTCTGGCTTCTTCAAGT	0.303000													40	84					0	0	0.048971	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626805	108626805	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:108626805G>C	ENST00000264047.2	+	9	1507	c.1231G>C	c.(1231-1233)Gac>Cac	p.D411H	SLC5A7_ENST00000409059.1_Missense_Mutation_p.D411H|SLC5A7_ENST00000540517.1_Missense_Mutation_p.D306H	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	411					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.D411H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCTCAGTTCTGACCTTGTTTA	0.488000													32	40					0	0	0.041601	0	0
FANCA	2175	broad.mit.edu	37	16	89869700	89869700	+	Silent	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:89869700C>G	ENST00000389301.3	-	8	789	c.759G>C	c.(757-759)ctG>ctC	p.L253L	FANCA_ENST00000563673.1_Silent_p.L253L|FANCA_ENST00000389302.3_Silent_p.L253L|FANCA_ENST00000543736.1_Silent_p.L221L|FANCA_ENST00000534992.1_Silent_p.L253L|FANCA_ENST00000568369.1_Silent_p.L253L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	253					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	p.L253L(1)		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)		CAGTTCTTCTCAGATCTGAGT	0.393000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				52	60					0	0	0.048971	0	0
CAMK2G	818	broad.mit.edu	37	10	75602237	75602237	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:75602237G>C	ENST00000423381.1	-	11	1005	c.882C>G	c.(880-882)ttC>ttG	p.F294L	CAMK2G_ENST00000372765.1_Missense_Mutation_p.F294L|CAMK2G_ENST00000444854.2_Missense_Mutation_p.Q95E|RP11-574K11.8_ENST00000446730.2_RNA|CAMK2G_ENST00000305762.7_Missense_Mutation_p.F294L|CAMK2G_ENST00000394762.2_Missense_Mutation_p.F294L|CAMK2G_ENST00000322680.3_Missense_Mutation_p.F294L|CAMK2G_ENST00000351293.3_Missense_Mutation_p.F294L|CAMK2G_ENST00000322635.3_Missense_Mutation_p.F294L|CAMK2G_ENST00000472912.1_5'UTR	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	294	Calmodulin-binding (By similarity).|Calmodulin-binding.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	p.F294L(2)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					TCCGGGCATTGAACTTGCGCA	0.542000													23	31					0	0	0.108266	0	0
SYCP2	10388	broad.mit.edu	37	20	58439419	58439419	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:58439419G>A	ENST00000357552.3	-	45	4765	c.4540C>T	c.(4540-4542)Cgc>Tgc	p.R1514C	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1514C			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1514					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.R1514C(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AGTTCTCTGCGTACATTAAGA	0.299000													6	14					0	0	0.029380	0	0
FRG1B	284802	broad.mit.edu	37	20	29632684	29632684	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:29632684C>G	ENST00000278882.3	+	8	879	c.499C>G	c.(499-501)Cag>Gag	p.Q167E	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q167E														p.Q167E(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAAAAGGCTCAGAAAGATGG	0.313000													42	708					0	0	0.039052	0	0
FUBP3	8939	broad.mit.edu	37	9	133499065	133499065	+	Silent	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:133499065G>T	ENST00000319725.9	+	11	1017	c.942G>T	c.(940-942)gcG>gcT	p.A314A		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	314	KH 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	p.A314A(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGCATGCAGCGCATATCATCA	0.557000													19	4					6.33239e-15	7.24468e-15	0.055883	1	0
TLR4	7099	broad.mit.edu	37	9	120475702	120475702	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:120475702C>T	ENST00000355622.6	+	3	1397	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	TLR4_ENST00000394487.4_Silent_p.S392S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	432					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.S432S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TCCAGCATTCCAATTTGAAAC	0.378000													40	12					0	0	0.086207	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58563891	58563891	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:58563891G>A	ENST00000282326.1	+	5	746	c.499G>A	c.(499-501)Gcc>Acc	p.A167T		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	167					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A167T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		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;0.0152)		AGTGGCAGCAGCCCCAGCACT	0.652000													32	25					0	0	0.059317	0	0
EIF4A3	9775	broad.mit.edu	37	17	78120641	78120641	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:78120641G>C	ENST00000269349.3	-	1	341	c.120C>G	c.(118-120)ttC>ttG	p.F40L		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	40					mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	p.F40L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CCATGGTGTCGAACGTGGGGG	0.687000													12	45					0	0	0.093190	0	0
ECEL1	9427	broad.mit.edu	37	2	233345140	233345140	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:233345140G>A	ENST00000304546.1	-	17	2407	c.2197C>T	c.(2197-2199)Ctg>Ttg	p.L733L	ECEL1_ENST00000409941.1_Silent_p.L731L	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	733					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	p.L733L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTGTCAGTCAGCACCTGCAGG	0.637000													16	28					0	0	0.033300	0	0
COPS7A	50813	broad.mit.edu	37	12	6837406	6837406	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:6837406C>G	ENST00000543155.1	+	4	738	c.256C>G	c.(256-258)Cct>Gct	p.P86A	COPS7A_ENST00000538410.1_Missense_Mutation_p.P86A|COPS7A_ENST00000539735.1_Missense_Mutation_p.P86A|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000229251.3_Missense_Mutation_p.P86A|COPS7A_ENST00000534947.1_Missense_Mutation_p.P86A|COPS7A_ENST00000534877.1_Missense_Mutation_p.P86A	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	86	PCI.				cullin deneddylation	cytoplasm|signalosome		p.P86A(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						CCGGAATCTTCCTCCACTAAC	0.512000													17	49					0	0	0.043863	0	0
MACF1	23499	broad.mit.edu	37	1	39818703	39818703	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:39818703G>C	ENST00000564288.1	+	44	12001	c.11224G>C	c.(11224-11226)Gag>Cag	p.E3742Q	MACF1_ENST00000361689.2_Missense_Mutation_p.E1680Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E2182Q|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.E1680Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E1680Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E1680Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E3779Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E3747Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3747					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.E2182Q(1)|p.E1680Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAACTGGCAGAGAACAAGAA	0.473000													12	23					0	0	0.020292	0	0
MYH2	4620	broad.mit.edu	37	17	10430322	10430322	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:10430322G>C	ENST00000245503.5	-	29	4307	c.3923C>G	c.(3922-3924)tCa>tGa	p.S1308*	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.S1308*|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1308					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1308*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTGCCTCTTGATAACTGAGA	0.373000													25	3					0	0	0.099896	0	0
MYO15A	51168	broad.mit.edu	37	17	18082089	18082089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:18082089G>T	ENST00000205890.5	+	66	10836	c.10498G>T	c.(10498-10500)Gaa>Taa	p.E3500*	RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000451725.2_3'UTR|RP11-258F1.1_ENST00000583062.1_RNA|MYO15A_ENST00000418233.3_Missense_Mutation_p.G781V	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3500	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.E3500*(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCAGGGACTGGAACTGTGTCG	0.592000													19	6					1.85244e-09	2.00064e-09	0.083992	1	0
NF1	4763	broad.mit.edu	37	17	29657369	29657369	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:29657369G>A	ENST00000358273.4	+	39	6048	c.5665G>A	c.(5665-5667)Gag>Aag	p.E1889K	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.E1868K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1889					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.E1889K(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTAAAAATCGAGGGCCAGTT	0.393000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			38	75					0	0	0.098360	0	0
KLK12	43849	broad.mit.edu	37	19	51535219	51535219	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:51535219C>T	ENST00000525263.1	-	3	489	c.370G>A	c.(370-372)Gtt>Att	p.V124I	KLK12_ENST00000250351.4_Missense_Mutation_p.V124I|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Missense_Mutation_p.V124I|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250352.11_Intron			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	124	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	p.V124I(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		AGGGGTTGAACGCTGCTGGTT	0.677000													19	32					0	0	0.043863	0	0
CHD8	57680	broad.mit.edu	37	14	21868445	21868445	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr14:21868445C>T	ENST00000399982.2	-	23	4656	c.4592G>A	c.(4591-4593)cGt>cAt	p.R1531H	CHD8_ENST00000557364.1_Missense_Mutation_p.R1531H|CHD8_ENST00000430710.3_Missense_Mutation_p.R1252H|CHD8_ENST00000555962.1_5'UTR	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1531					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.R1531H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTTGCGTCCACGAGGCACAGG	0.403000													13	24					0	0	0.020292	0	0
MST1R	4486	broad.mit.edu	37	3	49929005	49929005	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:49929005C>A	ENST00000296474.3	-	16	3388	c.3361G>T	c.(3361-3363)Gag>Tag	p.E1121*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.E1072*	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1121	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.E1121*(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCTGCATCTCTGTGATGCCT	0.582000													32	32					2.42023e-17	2.81665e-17	0.059317	1	0
MICAL3	57553	broad.mit.edu	37	22	18293495	18293495	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:18293495C>G	ENST00000441493.2	-	28	5882	c.5530G>C	c.(5530-5532)Gag>Cag	p.E1844Q	XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1844						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.E222Q(1)|p.E1844Q(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CGCTTAAGCTCCTCCTGCTTG	0.592000													20	21					0	0	0.062417	0	0
DUSP13	51207	broad.mit.edu	37	10	76855531	76855531	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:76855531T>C	ENST00000491677.2	-	7	1125	c.583A>G	c.(583-585)Aag>Gag	p.K195E	DUSP13_ENST00000464872.1_Missense_Mutation_p.K66E|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000478873.2_Missense_Mutation_p.K202E|DUSP13_ENST00000607131.1_Missense_Mutation_p.K159E|DUSP13_ENST00000472493.2_Missense_Mutation_p.K66E|DUSP13_ENST00000605915.1_Missense_Mutation_p.K88E|DUSP13_ENST00000372700.3_Missense_Mutation_p.K116E	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	58						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K66E(1)|p.K195E(1)|p.K116E(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGGATCAGCTTGCTCTTGTCC	0.567000													42	64					0	0	0.111260	0	0
KIF21B	23046	broad.mit.edu	37	1	200967639	200967639	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:200967639G>A	ENST00000332129.2	-	14	2266	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	KIF21B_ENST00000461742.2_Silent_p.I650I|KIF21B_ENST00000422435.2_Silent_p.I650I|KIF21B_ENST00000360529.5_Silent_p.I650I	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	650					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I650I(1)		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						CCAGCTCGTCGATCAGCTTCT	0.562000													32	62					0	0	0.045705	0	0
SLC1A2	6506	broad.mit.edu	37	11	35308446	35308446	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr11:35308446C>A	ENST00000278379.3	-	8	1426	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y	SLC1A2_ENST00000395750.1_Missense_Mutation_p.D373Y|SLC1A2_ENST00000395753.1_Missense_Mutation_p.D373Y|SLC1A2_ENST00000606205.1_Missense_Mutation_p.D382Y	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	382					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.D382Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ACACGCTTATCAATCCCCAGA	0.458000													65	88					3.30712e-30	3.95098e-30	0.048971	1	0
ADAM11	4185	broad.mit.edu	37	17	42855099	42855099	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:42855099G>C	ENST00000200557.6	+	23	2107	c.1938G>C	c.(1936-1938)ctG>ctC	p.L646L	ADAM11_ENST00000535346.1_Silent_p.L446L	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	646	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.L646L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCTCTGACCTGAGCTATGTGG	0.642000													31	22					0	0	0.059317	0	0
CHODL	140578	broad.mit.edu	37	21	19632552	19632552	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr21:19632552C>G	ENST00000299295.2	+	4	974	c.583C>G	c.(583-585)Ctt>Gtt	p.L195V	CHODL_ENST00000543733.1_Missense_Mutation_p.L176V|CHODL_ENST00000400131.1_Missense_Mutation_p.L154V|CHODL_ENST00000400135.1_Missense_Mutation_p.L154V|CHODL_ENST00000338326.3_Missense_Mutation_p.L154V|CHODL_ENST00000400127.1_Missense_Mutation_p.L154V|CHODL_ENST00000400128.1_Missense_Mutation_p.L154V	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	195					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	p.L154V(1)|p.L195V(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AAAGCCTTATCTTACAAATCA	0.323000													36	59					0	0	0.092188	0	0
VPS13C	54832	broad.mit.edu	37	15	62201309	62201309	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr15:62201309C>G	ENST00000261517.5	-	65	8933	c.8860G>C	c.(8860-8862)Gtg>Ctg	p.V2954L	VPS13C_ENST00000395898.3_Missense_Mutation_p.V2911L|VPS13C_ENST00000249837.3_Missense_Mutation_p.V2911L|VPS13C_ENST00000395896.4_Missense_Mutation_p.V2954L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2954					protein localization			p.V2954L(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTACATCCACCAAGATACCC	0.353000													19	41					0	0	0.062417	0	0
KPNA5	3841	broad.mit.edu	37	6	117053364	117053364	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:117053364C>G	ENST00000368564.1	+	14	1646	c.1498C>G	c.(1498-1500)Ctg>Gtg	p.L500V	KPNA5_ENST00000356348.1_Missense_Mutation_p.L500V			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	497					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	p.L500V(1)		breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GGCATTTGATCTGATTGAACA	0.343000													33	40					0	0	0.086207	0	0
TSC1	7248	broad.mit.edu	37	9	135781358	135781358	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:135781358A>T	ENST00000298552.3	-	15	1828	c.1607T>A	c.(1606-1608)tTa>tAa	p.L536*	TSC1_ENST00000545250.1_Nonsense_Mutation_p.L485*|TSC1_ENST00000440111.2_Nonsense_Mutation_p.L536*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	536					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.L536*(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGAGGAGTGTAAAGGCTCAGG	0.587000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				24	5					0	0	0.083992	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								101	1988					0	0	0.048971	0	0
DEPDC5	9681	broad.mit.edu	37	22	32266660	32266660	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:32266660A>C	ENST00000400246.1	+	34	3557	c.3415A>C	c.(3415-3417)Agc>Cgc	p.S1139R	DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1117R|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1108R|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1139R|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S1061R|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1130R|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1108R|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S1039R|DEPDC5_ENST00000539165.1_5'UTR			O75140	DEPD5_HUMAN	DEP domain containing 5	1108					intracellular signal transduction			p.S1039R(1)|p.S1108R(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGAGGCAACAGCCAGACCTT	0.512000													15	32					0	0	0.033300	0	0
PRX	57716	broad.mit.edu	37	19	40903232	40903232	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:40903232C>T	ENST00000324001.7	-	7	1297	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	343					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.E343K(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTCCACCTCTGCACCCGGC	0.652000													17	31					0	0	0.062417	0	0
CYP2R1	120227	broad.mit.edu	37	11	14900872	14900872	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr11:14900872T>C	ENST00000532378.1	-	5	1273	c.419A>G	c.(418-420)aAt>aGt	p.N140S	CYP2R1_ENST00000334636.5_Missense_Mutation_p.N373S			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	373					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	p.N373S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TGGAACTATATTACAGAATCT	0.368000													20	27					0	0	0.055883	0	0
MEI1	150365	broad.mit.edu	37	22	42126536	42126536	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:42126536G>C	ENST00000401548.3	+	9	1031	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	MEI1_ENST00000540833.1_Missense_Mutation_p.E71Q|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	331							binding	p.E331Q(1)		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						GTTCCTCTTTGAGCATCTTTC	0.453000													17	20					0	0	0.033300	0	0
DOCK4	9732	broad.mit.edu	37	7	111379265	111379265	+	Silent	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr7:111379265G>T	ENST00000428084.1	-	49	5429	c.5157C>A	c.(5155-5157)tcC>tcA	p.S1719S	DOCK4_ENST00000437633.1_Silent_p.S1710S|DOCK4_ENST00000494651.2_Silent_p.S593S			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1710	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.S1707S(1)|p.S1710S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGTTTTCTCGGGAATGTTTGT	0.502000													6	74					0.00448238	0.00469086	0.047766	1	0
MRGBP	55257	broad.mit.edu	37	20	61428556	61428556	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:61428556G>C	ENST00000370487.3	+	2	314	c.243G>C	c.(241-243)ctG>ctC	p.L81L		NM_018270.4	NP_060740.1			MRG/MORF4L binding protein									p.L81L(1)									GGGACCATCTGAGCACCATGT	0.607000													17	33					0	0	0.028581	0	0
BTAF1	9044	broad.mit.edu	37	10	93751913	93751913	+	Silent	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:93751913C>A	ENST00000265990.6	+	21	3200	c.2892C>A	c.(2890-2892)gtC>gtA	p.V964V		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	964					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.V964V(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACCATACTGTCACCAAGCACA	0.398000													32	36					6.84511e-11	7.57451e-11	0.059317	1	0
PRX	57716	broad.mit.edu	37	19	40902836	40902836	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:40902836C>T	ENST00000324001.7	-	7	1693	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	475	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.E475K(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTTTCATCTCTGACACCTTG	0.582000													56	95					0	0	0.048971	0	0
C16orf87	388272	broad.mit.edu	37	16	46836943	46836943	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:46836943G>C	ENST00000394806.2	-	3	215	c.203C>G	c.(202-204)tCt>tGt	p.S68C	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000285697.4_Missense_Mutation_p.S129C			Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	129								p.S129C(1)		large_intestine(4)|urinary_tract(1)	5						CTTTTCATCAGACAGGTTAGC	0.313000													16	23					0	0	0.024245	0	0
TMTC2	160335	broad.mit.edu	37	12	83289890	83289890	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:83289890C>G	ENST00000549919.1	+	4	2735	c.930C>G	c.(928-930)ttC>ttG	p.F310L	TMTC2_ENST00000321196.3_Missense_Mutation_p.F316L|TMTC2_ENST00000548305.1_Missense_Mutation_p.F316L			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	316						endoplasmic reticulum|integral to membrane	binding	p.F316L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTGTGGCCTTCTATACTGGAC	0.458000													36	107					0	0	0.080422	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								57	2100					0	0	0.069288	0	0
HLA-A	3105	broad.mit.edu	37	6	29913231	29913231	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:29913231G>T	ENST00000396634.1	+	10	1438	c.1097G>T	c.(1096-1098)tGa>tTa	p.*366L	HLA-A_ENST00000376806.5_Nonstop_Mutation_p.*372L|HLA-A_ENST00000376809.5_Nonstop_Mutation_p.*366L|HLA-A_ENST00000376802.2_Nonstop_Mutation_p.*300L			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.*366L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTATAGTGTGAGACAGCTGC	0.448000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			14	37					2.35188e-11	2.624e-11	0.038395	1	0
ZNF25	219749	broad.mit.edu	37	10	38241395	38241395	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:38241395C>T	ENST00000302609.7	-	6	1243	c.1031G>A	c.(1030-1032)tGt>tAt	p.C344Y	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C344Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				ACATTTATTACATTCAAAGGG	0.413000													17	29					0	0	0.028581	0	0
HMGB2	3148	broad.mit.edu	37	4	174254073	174254073	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr4:174254073C>G	ENST00000296503.5	-	4	1243	c.370G>C	c.(370-372)Gat>Cat	p.D124H	HMGB2_ENST00000446922.2_Missense_Mutation_p.D124H|HMGB2_ENST00000438704.2_Missense_Mutation_p.D124H			P26583	HMGB2_HUMAN	high mobility group box 2	124					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.D124H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTTGCAGTATCCCCAATGGAT	0.408000													76	104					0	0	0.048971	0	0
ANKRD27	84079	broad.mit.edu	37	19	33117659	33117659	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:33117659G>T	ENST00000306065.4	-	16	1653	c.1495C>A	c.(1495-1497)Ccg>Acg	p.P499T		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	499					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.P499T(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGGTGGAGCGGAGTGGCTCCA	0.607000													5	2					1.6384e-10	1.79824e-10	0.029380	1	0
COX20	116228	broad.mit.edu	37	1	245006464	245006464	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:245006464A>G	ENST00000411948.2	+	4	736	c.343A>G	c.(343-345)Agc>Ggc	p.S115G	COX20_ENST00000498262.1_3'UTR|COX20_ENST00000366528.3_Missense_Mutation_p.S127G	NM_198076.4	NP_932342.1	Q5RI15	FA36A_HUMAN	COX20 cytochrome C oxidase assembly factor	115						integral to membrane		p.S115G(1)									ACACAACGGCAGCAGCAGCAA	0.363000													19	31					0	0	0.049695	0	0
TACC3	10460	broad.mit.edu	37	4	1746708	1746708	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr4:1746708G>A	ENST00000313288.4	+	16	2591	c.2485G>A	c.(2485-2487)Gac>Aac	p.D829N		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	829						centrosome		p.D829N(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGGATCTGCGACGACCTCAT	0.597000													80	5					0	0	0.048971	0	0
NIF3L1	60491	broad.mit.edu	37	2	201756971	201756971	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:201756971G>A	ENST00000409020.1	+	2	599	c.305G>A	c.(304-306)cGc>cAc	p.R102H	NIF3L1_ENST00000409588.1_Missense_Mutation_p.R102H|NIF3L1_ENST00000409357.1_Missense_Mutation_p.R102H|NIF3L1_ENST00000359683.4_Missense_Mutation_p.R75H|NIF3L1_ENST00000416651.1_Missense_Mutation_p.R102H			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	102					positive regulation of transcription, DNA-dependent		transcription factor binding	p.R102H(1)|p.R75H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						CCCATGAAGCGCATAACCTGG	0.547000													5	102					0	0	0.014758	0	0
IFI16	3428	broad.mit.edu	37	1	159021525	159021525	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:159021525G>A	ENST00000295809.7	+	10	1977	c.1722G>A	c.(1720-1722)caG>caA	p.Q574Q	IFI16_ENST00000368131.4_Silent_p.Q518Q|IFI16_ENST00000448393.2_Silent_p.Q462Q|IFI16_ENST00000359709.3_Silent_p.Q518Q|IFI16_ENST00000430894.2_Silent_p.Q522Q|IFI16_ENST00000340979.6_Silent_p.Q462Q|IFI16_ENST00000368132.3_Silent_p.Q518Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	574	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.Q518Q(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ACAGTGCCCAGAGTGACCTCA	0.418000													44	56					0	0	0.104719	0	0
RSRC2	65117	broad.mit.edu	37	12	122999747	122999747	+	Silent	SNP	C	C	T	rs142949567		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:122999747C>T	ENST00000331738.7	-	6	775	c.630G>A	c.(628-630)ccG>ccA	p.P210P	RSRC2_ENST00000354654.2_Silent_p.P162P	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	210								p.P210P(1)		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)		TAAATCTTCTCGGCTTTTCAA	0.383000													4	105					0	0	0.009096	0	0
KCNMA1	3778	broad.mit.edu	37	10	78799315	78799315	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:78799315G>A	ENST00000286627.5	-	15	2782	c.1830C>T	c.(1828-1830)ttC>ttT	p.F610F	KCNMA1_ENST00000286628.8_Silent_p.F610F|KCNMA1_ENST00000372440.1_Silent_p.F610F|KCNMA1_ENST00000372443.1_Silent_p.F610F|KCNMA1_ENST00000404771.3_Silent_p.F610F|KCNMA1_ENST00000406533.3_Silent_p.F610F|KCNMA1_ENST00000404857.1_Silent_p.F610F|KCNMA1_ENST00000354353.5_Silent_p.F610F	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	610					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.F610F(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ACAGACCCACGAAGGCACTGG	0.448000													17	26					0	0	0.028581	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187694567	187694567	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:187694567G>T	ENST00000295131.2	-	8	1021	c.982C>A	c.(982-984)Ctc>Atc	p.L328I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	328					apoptosis		zinc ion binding	p.L328I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATCAGTTGGAGAGGCAGTGAT	0.393000													42	64					8.01111e-26	9.48684e-26	0.039052	1	0
ABCA10	10349	broad.mit.edu	37	17	67148283	67148283	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:67148283C>G	ENST00000269081.4	-	37	5207	c.4298G>C	c.(4297-4299)aGa>aCa	p.R1433T	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1433	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.R1433T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TAAATAATCTCTACCAAACTT	0.388000													19	36					0	0	0.049695	0	0
FAM9B	171483	broad.mit.edu	37	X	8995957	8995957	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:8995957C>T	ENST00000362066.3	-	6	752	c.564G>A	c.(562-564)agG>agA	p.R188R	FAM9B_ENST00000428477.1_Silent_p.R148R|FAM9B_ENST00000327220.5_Silent_p.R148R			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	148						nucleus		p.R148R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				GCCTCTCTCTCCTAACACTTC	0.323000													37	51					0	0	0.039052	0	0
NAT1	9	broad.mit.edu	37	8	18080042	18080042	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr8:18080042C>G	ENST00000539092.1	+	5	1177	c.486C>G	c.(484-486)gaC>gaG	p.D162E	NAT1_ENST00000520546.1_Missense_Mutation_p.D162E|NAT1_ENST00000517492.1_Missense_Mutation_p.D162E|NAT1_ENST00000307719.4_Missense_Mutation_p.D162E|NAT1_ENST00000518029.1_Missense_Mutation_p.D162E|NAT1_ENST00000541942.1_Missense_Mutation_p.D162E|NAT1_ENST00000545197.1_Missense_Mutation_p.D224E|NAT1_ENST00000535084.1_Missense_Mutation_p.D162E|NAT1_ENST00000517441.1_3'UTR	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	162					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.D224E(1)|p.D162E(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GGTATCTAGACCAAATCAGAA	0.428000													39	54					0	0	0.092188	0	0
BCL2L13	23786	broad.mit.edu	37	22	18171756	18171756	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:18171756C>T	ENST00000355028.3	+	4	360	c.234C>T	c.(232-234)ttC>ttT	p.F78F	BCL2L13_ENST00000317582.5_Silent_p.F78F|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000399782.1_Silent_p.F78F|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000493680.1_Silent_p.F78F|BCL2L13_ENST00000418951.2_3'UTR	NM_001270733.1|NM_001270734.1	NP_001257662.1|NP_001257663.1	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	78					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	p.F78F(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CTTCAGCCTTCACCAGCACAG	0.448000													33	31					0	0	0.059317	0	0
OR2H2	7932	broad.mit.edu	37	6	29556637	29556637	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:29556637G>C	ENST00000383640.2	+	1	955	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	306					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E306Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCTGGGGAAGGAAATGGGGCT	0.478000													18	27					0	0	0.033300	0	0
MRGBP	55257	broad.mit.edu	37	20	61429948	61429948	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:61429948G>C	ENST00000370487.3	+	3	351	c.280G>C	c.(280-282)Gag>Cag	p.E94Q		NM_018270.4	NP_060740.1			MRG/MORF4L binding protein									p.E94Q(1)									GCATGAGTCTGAGATTCTTCC	0.478000													68	164					0	0	0.048971	0	0
COL12A1	1303	broad.mit.edu	37	6	75884895	75884895	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:75884895G>T	ENST00000322507.8	-	13	2878	c.2569C>A	c.(2569-2571)Caa>Aaa	p.Q857K	COL12A1_ENST00000483888.2_Missense_Mutation_p.Q857K|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q857K|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	857	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.Q857K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTGACCTCTTGAGTTTCACCC	0.498000													71	109					5.41189e-41	6.58203e-41	0.048971	1	0
MGP	4256	broad.mit.edu	37	12	15035937	15035937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:15035937G>A	ENST00000539261.1	-	3	273	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Nonsense_Mutation_p.Q72*	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	47					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone	p.Q47*(1)		large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CATCTCTGCTGAGGGGATATG	0.393000													24	31					0	0	0.050027	0	0
SNX33	257364	broad.mit.edu	37	15	75942367	75942367	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr15:75942367G>C	ENST00000308527.5	+	1	2121	c.924G>C	c.(922-924)cgG>cgC	p.R308R		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	308	PX.				cell communication		phosphatidylinositol binding|protein binding	p.R308R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						AGCGGAAGCGGAGACTCATCC	0.582000													37	72					0	0	0.080422	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943411	26943411	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:26943411G>A	ENST00000528896.2	-	36	6348	c.6274C>T	c.(6274-6276)Cgc>Tgc	p.R2092C	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1949C|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1949C|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2092						extracellular region		p.R2092C(1)		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)					GGCGATTTGCGAAATGACCTT	0.527000													35	108					0	0	0.074837	0	0
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													3	6	---	---	---	---					
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													3	6	---	---	---	---					
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139094364	139094365	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr7:139094364_139094365insAG	ENST00000354926.4	+	7	1097_1098	c.743_744insAG	c.(742-747)gaagagfs	p.EE248fs	LUC7L2_ENST00000541515.3_Frame_Shift_Ins_p.EE314fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Ins_p.EE247fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Ins_p.EE245fs	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2																					AAACGAAGAGAAGAGAGAGAGA	0.396													6	11	---	---	---	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													8	358	---	---	---	---					
ZCCHC8	55596	broad.mit.edu	37	12	122975027	122975027	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:122975027delG	ENST00000336229.4	-	4	535	c.405delC	c.(403-405)tccfs	p.S135fs	ZCCHC8_ENST00000536306.1_5'UTR|ZCCHC8_ENST00000543897.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	135						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AAAGATTAAAGGAAGTCTTTT	0.338													20	27	---	---	---	---					
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs112393371	byFrequency	TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:73569700_73569701insG	ENST00000392550.3	+	21	2981_2982	c.2864_2865insG	c.(2863-2868)ccgagcfs	p.S956fs	LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.S956fs|LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.S956fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	956					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668													8	52	---	---	---	---					
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000330915.3	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_ENST00000593649.1_In_Frame_Del_p.DGDS489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717													3	5	---	---	---	---					
RAVER1	125950	broad.mit.edu	37	19	10428414	10428414	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:10428414delC	ENST00000293677.6	-	12	2157	c.2076delG	c.(2074-2076)gggfs	p.G692fs	CTD-2369P2.12_ENST00000586529.1_Frame_Shift_Del_p.G93fs	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	519						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GGCCCAGGAGCCCTTCTCCGG	0.697													2	4	---	---	---	---					
PDXK	8566	broad.mit.edu	37	21	45161607	45161607	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr21:45161607delG	ENST00000291565.4	+	3	385	c.202delG	c.(202-204)ggcfs	p.G68fs	PDXK_ENST00000468090.1_Frame_Shift_Del_p.G68fs|PDXK_ENST00000467908.1_Frame_Shift_Del_p.G28fs	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	68					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GTTGTACGAAGGCCTGAGGCT	0.577													16	27	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5	---	---	---	---