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
WBSCR16	81554	broad.mit.edu	37	7	74482554	74482554	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:74482554T>C	ENST00000503250.2	-	3	575	c.506A>G	c.(505-507)gAc>gGc	p.D169G	WBSCR16_ENST00000543840.1_Missense_Mutation_p.D169G|WBSCR16_ENST00000329959.4_Missense_Mutation_p.D169G			Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	169										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CTGAGGTCTGTCCAGAGGCAG	0.567000													6	38					0	0	8.12818e-05	0	0
IFRD1	3475	broad.mit.edu	37	7	112096077	112096077	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:112096077G>C	ENST00000403825.3	+	3	481	c.220G>C	c.(220-222)Gaa>Caa	p.E74Q	IFRD1_ENST00000535603.1_Missense_Mutation_p.E24Q|IFRD1_ENST00000429071.1_Missense_Mutation_p.E74Q|IFRD1_ENST00000005558.4_Missense_Mutation_p.E74Q	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	74					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCTTGATGAGGAAGGAACTCA	0.358000													11	55					0	0	0.000151284	0	0
STAB2	55576	broad.mit.edu	37	12	104107510	104107510	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:104107510A>G	ENST00000388887.2	+	42	4705	c.4501A>G	c.(4501-4503)Aaa>Gaa	p.K1501E		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1501	EGF-like 12.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGCACGTGCAAAGCAGGCTA	0.502000													6	192					0	0	3.59834e-05	0	0
ERN1	2081	broad.mit.edu	37	17	62149454	62149454	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:62149454T>C	ENST00000433197.2	-	6	460	c.365A>G	c.(364-366)cAg>cGg	p.Q122R	ERN1_ENST00000577567.1_5'UTR	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	122					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCAGATGTCCTGCTTTTTACC	0.448000													6	22					0	0	0.000157383	0	0
MCEE	84693	broad.mit.edu	37	2	71351586	71351586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:71351586C>T	ENST00000244217.5	-	2	145	c.128G>A	c.(127-129)tGg>tAg	p.W43*		NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	43					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACCCAGGTTCCACACAGAACC	0.468000													39	153					0	0	0.000106405	0	0
KIF20B	9585	broad.mit.edu	37	10	91477240	91477240	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr10:91477240T>C	ENST00000416354.1	+	10	1184	c.1112T>C	c.(1111-1113)aTt>aCt	p.I371T	KIF20B_ENST00000394289.2_Missense_Mutation_p.I371T|KIF20B_ENST00000260753.4_Missense_Mutation_p.I371T|KIF20B_ENST00000371728.3_Missense_Mutation_p.I371T			Q96Q89	KI20B_HUMAN	kinesin family member 20B	371	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TCTCGTGTAATTCGAGTCAGT	0.234000													8	21					0	0	3.86212e-05	0	0
FAAH	2166	broad.mit.edu	37	1	46879241	46879241	+	Silent	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:46879241A>G	ENST00000243167.8	+	15	1818	c.1734A>G	c.(1732-1734)tcA>tcG	p.S578S		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	578					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	AAAAGCAGTCATCCTGATGGC	0.602000													6	28					0	0	8.12818e-05	0	0
SEC23B	10483	broad.mit.edu	37	20	18526600	18526600	+	Splice_Site	SNP	T	T	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr20:18526600T>G	ENST00000336714.3	+	15	2098	c.1665_splice	c.e15-1	p.C556_splice	SEC23B_ENST00000377465.1_Splice_Site_p.C556_splice|SEC23B_ENST00000377475.3_Splice_Site_p.C556_splice|SEC23B_ENST00000262544.2_Splice_Site_p.C556_splice	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	556					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CTTTCCATAGTGTCAAAAGTT	0.323000													49	97					0	0	0.000147903	0	0
IFT140	9742	broad.mit.edu	37	16	1612079	1612079	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr16:1612079C>G	ENST00000426508.2	-	18	2469	c.2106G>C	c.(2104-2106)gaG>gaC	p.E702D	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	702										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGAAGCCGTGCTCTTCGGAAA	0.453000													37	21					0	0	0.000191422	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50661002	50661002	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr22:50661002A>G	ENST00000439308.2	-	14	2782	c.2290T>C	c.(2290-2292)Tac>Cac	p.Y764H	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.Y764H|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	764					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCTTGCTGTAGTGGTCGACC	0.597000													5	54					0	0	8.12818e-05	0	0
AHCYL2	23382	broad.mit.edu	37	7	129046309	129046309	+	Splice_Site	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:129046309T>C	ENST00000325006.3	+	10	1349		c.e10+2		AHCYL2_ENST00000446544.2_Splice_Site|AHCYL2_ENST00000474594.1_Splice_Site|AHCYL2_ENST00000490911.1_Splice_Site|AHCYL2_ENST00000531335.2_Splice_Site|AHCYL2_ENST00000446212.1_Splice_Site	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2						one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCAAGCCTGGTAAGCCTCTAC	0.522000													10	77					0	0	3.86212e-05	0	0
GREB1	9687	broad.mit.edu	37	2	11761042	11761042	+	Silent	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:11761042A>G	ENST00000381486.2	+	23	4356	c.4056A>G	c.(4054-4056)acA>acG	p.T1352T	GREB1_ENST00000234142.5_Silent_p.T1352T|GREB1_ENST00000396123.1_Silent_p.T350T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1352						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCGGGAAGACAGGTGCCTACC	0.532000													26	115					0	0	9.22233e-05	0	0
TEKT3	64518	broad.mit.edu	37	17	15215662	15215662	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:15215662G>T	ENST00000395930.1	-	7	1201	c.1015C>A	c.(1015-1017)Caa>Aaa	p.Q339K	TEKT3_ENST00000338696.2_Missense_Mutation_p.Q339K	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	339					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTGTTGAATTGATTCCACATC	0.448000													24	76					3.96558e-24	2.06599e-22	9.22233e-05	1	0
SPAG17	200162	broad.mit.edu	37	1	118558773	118558773	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:118558773G>A	ENST00000336338.5	-	29	4167	c.4102C>T	c.(4102-4104)Cat>Tat	p.H1368Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1368						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCACCCTTATGGGCCATTGAT	0.393000													28	62					0	0	3.70037e-05	0	0
TMEM214	54867	broad.mit.edu	37	2	27263000	27263000	+	Silent	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:27263000C>T	ENST00000238788.9	+	15	1787	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	TMEM214_ENST00000404032.3_Silent_p.F530F	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	575						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CAGTCAGCTTCCTTTCTGCCC	0.612000													27	32					0	0	0.000147802	0	0
ARID1A	8289	broad.mit.edu	37	1	27089778	27089778	+	Splice_Site	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:27089778T>C	ENST00000324856.7	+	8	3103		c.e8+2		ARID1A_ENST00000374152.2_Splice_Site|ARID1A_ENST00000457599.2_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAAAACAGGTAAGGCCTGGG	0.512000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	13					0	0	3.59834e-05	0	0
MUC17	140453	broad.mit.edu	37	7	100685390	100685390	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:100685390A>G	ENST00000306151.4	+	3	10757	c.10693A>G	c.(10693-10695)Act>Gct	p.T3565A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3565	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGGTCACCACTATGCGTAT	0.468000													10	347					0	0	6.40141e-05	0	0
ABHD11	83451	broad.mit.edu	37	7	73150998	73150998	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:73150998A>G	ENST00000222800.3	-	6	908	c.839T>C	c.(838-840)aTg>aCg	p.M280T	ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000395147.4_Missense_Mutation_p.M223T|ABHD11_ENST00000437775.2_Missense_Mutation_p.M273T	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	280							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAAGAGCCGCATAATCTCAGG	0.602000													13	37					0	0	0.000151284	0	0
DISP1	84976	broad.mit.edu	37	1	223178941	223178941	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:223178941C>G	ENST00000284476.6	+	8	4366	c.4202C>G	c.(4201-4203)tCg>tGg	p.S1401W		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1401					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.S1401L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGCACTGGATCGTTACTCAAA	0.453000													6	257					0	0	3.59834e-05	0	0
MEA1	4201	broad.mit.edu	37	6	42981045	42981045	+	Silent	SNP	C	C	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:42981045C>A	ENST00000244711.3	-	2	265	c.111G>T	c.(109-111)ctG>ctT	p.L37L		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	37					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCTGATGTCCCAGTTCCTCAG	0.607000													5	44					1.23904e-05	0.000625088	1.23904e-05	1	0
COL4A4	1286	broad.mit.edu	37	2	227915858	227915858	+	Silent	SNP	G	G	T	rs79261248	by1000genomes	TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:227915858G>T	ENST00000396625.3	-	33	3192	c.2985C>A	c.(2983-2985)ccC>ccA	p.P995P	COL4A4_ENST00000329662.7_Silent_p.P995P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	995	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTTGCATCCCGGGAGTTCCTT	0.517000													8	77					3.07112e-06	0.000155923	6.40141e-05	1	0
SOS2	6655	broad.mit.edu	37	14	50605367	50605367	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr14:50605367T>C	ENST00000216373.5	-	18	3195	c.2921A>G	c.(2920-2922)aAt>aGt	p.N974S	SOS2_ENST00000543680.1_Missense_Mutation_p.N941S	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	974	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GTAAGGCTGATTCTGATACTG	0.313000													12	41					0	0	2.31682e-05	0	0
ANKRD12	23253	broad.mit.edu	37	18	9195588	9195588	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr18:9195588A>G	ENST00000383440.2	+	3	384	c.127A>G	c.(127-129)Att>Gtt	p.I43V	ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Missense_Mutation_p.I43V|ANKRD12_ENST00000262126.3_Missense_Mutation_p.I43V	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	43						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AACTCCAAAAATTGAACGAAG	0.323000													9	12					0	0	1.12685e-05	0	0
PARVB	29780	broad.mit.edu	37	22	44528816	44528816	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr22:44528816T>C	ENST00000338758.6	+	6	623	c.560T>C	c.(559-561)gTc>gCc	p.V187A	PARVB_ENST00000404989.1_Missense_Mutation_p.V150A|PARVB_ENST00000406477.3_Missense_Mutation_p.V220A	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	187	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				CACCTGCTGGTCTCTCTGGCC	0.597000													7	78					0	0	0.000157383	0	0
TRAF5	7188	broad.mit.edu	37	1	211545679	211545679	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:211545679C>G	ENST00000261464.5	+	11	1363	c.1309C>G	c.(1309-1311)Cgc>Ggc	p.R437G	TRAF5_ENST00000367004.3_Missense_Mutation_p.R437G|TRAF5_ENST00000427925.2_Missense_Mutation_p.R331G|TRAF5_ENST00000336184.2_Missense_Mutation_p.R437G	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	437	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		CTACACCAGCCGCTGTGGCTA	0.537000													4	88					0	0	1.23904e-05	0	0
NEDD1	121441	broad.mit.edu	37	12	97306520	97306520	+	Silent	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:97306520A>G	ENST00000266742.4	+	4	495	c.156A>G	c.(154-156)gcA>gcG	p.A52A	NEDD1_ENST00000557644.1_Silent_p.A59A|NEDD1_ENST00000429527.2_Silent_p.A52A|NEDD1_ENST00000457368.2_5'UTR|NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000555114.1_Intron	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	52					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TAGTAACAGCATCTTCCAGTG	0.328000													16	61					0	0	7.07596e-05	0	0
UNC5C	8633	broad.mit.edu	37	4	96166144	96166144	+	Silent	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr4:96166144A>G	ENST00000453304.1	-	6	1275	c.927T>C	c.(925-927)tgT>tgC	p.C309C	UNC5C_ENST00000506749.1_Silent_p.C309C	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	309	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATAACGTAGTACAGGCTATTT	0.443000													11	58					0	0	3.86212e-05	0	0
OLR1	4973	broad.mit.edu	37	12	10313476	10313476	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:10313476A>G	ENST00000309539.3	-	4	533	c.473T>C	c.(472-474)tTt>tCt	p.F158S	OLR1_ENST00000432556.2_Intron|OLR1_ENST00000543993.1_Intron|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000545927.1_Missense_Mutation_p.F158S	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	158	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCCCGAGGAAAATAGGTAACA	0.428000													26	107					0	0	0.000184323	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767728	77767728	+	Silent	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr8:77767728G>A	ENST00000521891.2	+	10	9019	c.8571G>A	c.(8569-8571)acG>acA	p.T2857T	ZFHX4_ENST00000518282.1_Silent_p.T2831T|ZFHX4_ENST00000050961.6_Silent_p.T2812T|ZFHX4_ENST00000455469.2_Silent_p.T2812T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2812						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCTACCACGGAGGTCTGCG	0.473000										HNSCC(33;0.089)			20	24					0	0	4.16121e-05	0	0
CCRL2	9034	broad.mit.edu	37	3	46449815	46449815	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:46449815T>C	ENST00000399036.3	+	2	597	c.245T>C	c.(244-246)gTt>gCt	p.V82A	ACKR5_ENST00000400882.2_Missense_Mutation_p.V82A|ACKR5_ENST00000400880.3_Missense_Mutation_p.V82A|ACKR5_ENST00000357392.4_Missense_Mutation_p.V94A	NM_003965.4	NP_003956.2																					AACTTGGCAGTTTCTAACTTG	0.453000													21	46					0	0	5.49717e-05	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000													5	37					0	0	8.12818e-05	0	0
RNF182	221687	broad.mit.edu	37	6	13977949	13977949	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:13977949G>A	ENST00000488300.1	+	3	1122	c.599G>A	c.(598-600)gGa>gAa	p.G200E	RNF182_ENST00000537663.1_Missense_Mutation_p.G200E|RNF182_ENST00000537388.1_Missense_Mutation_p.G200E|RNF182_ENST00000544682.1_Missense_Mutation_p.G200E	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	200						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TTACCCTTAGGAATCTACTTA	0.493000													37	46					0	0	7.51294e-05	0	0
ILF2	3608	broad.mit.edu	37	1	153636568	153636568	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:153636568A>G	ENST00000361891.4	-	10	820	c.695T>C	c.(694-696)aTt>aCt	p.I232T	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	232	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAAAACGAATCCTCAAGTC	0.403000													11	36					0	0	0.000151284	0	0
POLR3H	171568	broad.mit.edu	37	22	41928710	41928710	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr22:41928710T>C	ENST00000355209.4	-	3	591	c.248A>G	c.(247-249)gAg>gGg	p.E83G	POLR3H_ENST00000407461.1_Missense_Mutation_p.E83G|POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000396504.2_Missense_Mutation_p.E83G|POLR3H_ENST00000337566.5_Intron	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	83					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						AATGAGAATCTCATCTAGGAA	0.557000											OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	128					0	0	0.000117367	0	0
WDR12	55759	broad.mit.edu	37	2	203764284	203764284	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:203764284C>A	ENST00000261015.3	-	4	1057	c.308G>T	c.(307-309)tGg>tTg	p.W103L	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	103	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TGAACTGATCCAGTCATCATG	0.398000													11	493					0.000151284	0.00748999	0.000151284	1	0
RWDD1	51389	broad.mit.edu	37	6	116892810	116892810	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:116892810C>T	ENST00000466444.2	+	1	281	c.65C>T	c.(64-66)tCc>tTc	p.S22F	RWDD1_ENST00000392526.1_5'UTR|RWDD1_ENST00000517800.1_3'UTR|RWDD1_ENST00000487832.2_5'UTR	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	22	RWD.						protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TACCCTGACTCCTTCACAGGT	0.647000													5	16					0	0	3.59834e-05	0	0
LAMA1	284217	broad.mit.edu	37	18	7049160	7049160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr18:7049160G>A	ENST00000389658.3	-	5	778	c.685C>T	c.(685-687)Caa>Taa	p.Q229*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	229	Laminin N-terminal.			LQ -> FE (in Ref. 3; CAA41418).	axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTAATGCGTTGCAAGCGAAGG	0.478000													26	50					0	0	4.66903e-05	0	0
GBF1	8729	broad.mit.edu	37	10	104018780	104018780	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr10:104018780C>A	ENST00000369983.3	+	2	345	c.85C>A	c.(85-87)Cat>Aat	p.H29N		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	29					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.H29N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGGAGCACCCATACACCACT	0.413000													6	77					8.12818e-05	0.00404936	8.12818e-05	1	0
OR8B4	283162	broad.mit.edu	37	11	124293983	124293983	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:124293983G>A	ENST00000356130.3	-	1	806	c.785C>T	c.(784-786)tCt>tTt	p.S262F		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCCAGGAAAAGATGTTGTTAA	0.453000													16	15					0	0	3.45872e-05	0	0
TRHDE	29953	broad.mit.edu	37	12	72863541	72863541	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:72863541T>C	ENST00000261180.4	+	4	1280	c.1184T>C	c.(1183-1185)cTt>cCt	p.L395P		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	395					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTCTAGATCTTTTAGCTGTG	0.353000													16	88					0	0	9.7654e-05	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121168	114121168	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:114121168A>G	ENST00000335953.4	+	7	2293	c.1913A>G	c.(1912-1914)tAc>tGc	p.Y638C	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.Y638C	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	638					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGCACAGAGTACTGCCCCAGC	0.612000													8	21					0	0	1.12685e-05	0	0
KDM6B	23135	broad.mit.edu	37	17	7752375	7752375	+	Silent	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:7752375C>T	ENST00000254846.5	+	11	3158	c.2769C>T	c.(2767-2769)acC>acT	p.T923T	KDM6B_ENST00000448097.2_Silent_p.T923T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	923					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTTGCGAGACCCTTGTGGAGC	0.687000													10	25					0	0	0.00010058	0	0
RAB1B	81876	broad.mit.edu	37	11	66039915	66039915	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:66039915A>G	ENST00000311481.6	+	4	410	c.263A>G	c.(262-264)tAt>tGt	p.Y88C	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	88					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						ATCGTGGTGTATGACGTCACT	0.552000													8	24					0	0	0.000157383	0	0
DNER	92737	broad.mit.edu	37	2	230456470	230456470	+	Silent	SNP	G	G	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:230456470G>T	ENST00000341772.4	-	2	545	c.411C>A	c.(409-411)ccC>ccA	p.P137P		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	137					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTGGGAGACTGGGAAGTGCCT	0.577000													22	23					1.2476e-16	6.45754e-15	0.000147802	1	0
GPR20	2843	broad.mit.edu	37	8	142366966	142366966	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr8:142366966G>C	ENST00000377741.3	-	2	1148	c.1058C>G	c.(1057-1059)gCt>gGt	p.A353G		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	353						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GGGCCCATTAGCCAGGGCCTG	0.667000													10	16					0	0	2.17888e-05	0	0
STX12	23673	broad.mit.edu	37	1	28148824	28148824	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:28148824T>C	ENST00000373943.4	+	9	940	c.815T>C	c.(814-816)gTt>gCt	p.V272A		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	272					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGGCTAGTTTATAAAACG	0.413000													30	89					0	0	3.70037e-05	0	0
KIAA1524	57650	broad.mit.edu	37	3	108278845	108278845	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:108278845A>G	ENST00000295746.8	-	15	1934	c.1858T>C	c.(1858-1860)Tct>Cct	p.S620P	KIAA1524_ENST00000491772.1_Missense_Mutation_p.S461P	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	620						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTATGTCAGATATTCTCACA	0.254000													6	112					0	0	8.12818e-05	0	0
NAV1	89796	broad.mit.edu	37	1	201763696	201763696	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:201763696A>G	ENST00000367296.4	+	15	3928	c.3508A>G	c.(3508-3510)Aca>Gca	p.T1170A	NAV1_ENST00000367295.1_Missense_Mutation_p.T779A|NAV1_ENST00000367302.1_Missense_Mutation_p.T1126A|NAV1_ENST00000295624.6_Missense_Mutation_p.T1170A|NAV1_ENST00000367300.3_Missense_Mutation_p.T1113A|NAV1_ENST00000367297.4_Missense_Mutation_p.T1162A|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1170					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTCAGAAACCACACCCAAAGG	0.473000													10	30					0	0	6.40141e-05	0	0
OSBP	5007	broad.mit.edu	37	11	59344407	59344407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:59344407G>A	ENST00000263847.1	-	13	2631	c.2152C>T	c.(2152-2154)Cga>Tga	p.R718*		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	718					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGGTCAGGTCGTAACCGGCTG	0.483000													10	171					0	0	0.00010058	0	0
RAB34	83871	broad.mit.edu	37	17	27042505	27042505	+	Silent	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:27042505G>A	ENST00000395245.3	-	6	1026	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	RAB34_ENST00000436730.3_Silent_p.L134L|RAB34_ENST00000447716.1_Silent_p.L191L|RAB34_ENST00000301043.6_Silent_p.L134L|RAB34_ENST00000395242.2_Silent_p.L135L|RAB34_ENST00000453384.3_Silent_p.L192L|RAB34_ENST00000395243.3_Silent_p.L134L|RAB34_ENST00000450529.1_Silent_p.L134L|RAB34_ENST00000415040.2_Silent_p.L112L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	134					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					ACATCATTCAGGTTGAAGACA	0.502000													10	45					0	0	6.40141e-05	0	0
DENND4C	55667	broad.mit.edu	37	9	19361850	19361850	+	Silent	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr9:19361850C>T	ENST00000307015.9	+	26	4729	c.2977C>T	c.(2977-2979)Ctg>Ttg	p.L993L	DENND4C_ENST00000380432.2_Silent_p.L1520L|DENND4C_ENST00000540671.1_Silent_p.L850L|DENND4C_ENST00000602925.1_Silent_p.L1756L|DENND4C_ENST00000434457.2_Silent_p.L1805L			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1520						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTAGCTTCCTCTGTCATCTCT	0.363000													55	28					0	0	0.000147903	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603065	111603065	+	Silent	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:111603065G>A	ENST00000431670.2	+	2	552	c.141G>A	c.(139-141)ctG>ctA	p.L47L	PHLDB2_ENST00000481953.1_Silent_p.L47L|PHLDB2_ENST00000393925.3_Silent_p.L47L|PHLDB2_ENST00000393923.3_Silent_p.L74L|PHLDB2_ENST00000478922.1_Silent_p.L47L|PHLDB2_ENST00000412622.1_Silent_p.L47L|PHLDB2_ENST00000477695.1_Silent_p.L47L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	47						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTTCCAGTCTGAGATTTAAAG	0.453000													42	86					0	0	7.51294e-05	0	0
DCP1B	196513	broad.mit.edu	37	12	2107114	2107114	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:2107114A>G	ENST00000280665.6	-	2	257	c.178T>C	c.(178-180)Ttt>Ctt	p.F60L	DCP1B_ENST00000397173.4_5'UTR|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	60					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GTATAAACAAATAAGGTTCCT	0.308000													22	119					0	0	7.16444e-05	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74307767	74307767	+	Silent	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:74307767A>G	ENST00000446526.3	-	10	1459	c.1014T>C	c.(1012-1014)aaT>aaC	p.N338N	PRPSAP1_ENST00000324684.4_Silent_p.N235N|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	309					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GAGGGACAGTATTCGTCACCA	0.433000													10	30					0	0	2.31682e-05	0	0
MYEF2	50804	broad.mit.edu	37	15	48443761	48443761	+	Silent	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr15:48443761G>A	ENST00000324324.7	-	13	1494	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	MYEF2_ENST00000267836.6_Silent_p.Y405Y	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	405	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCGCACCACGGTACAGCTCTG	0.378000													55	175					0	0	0.000147903	0	0
SRRM3	222183	broad.mit.edu	37	7	75912381	75912381	+	Silent	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:75912381G>A	ENST00000388802.4	+	14	1904	c.1695G>A	c.(1693-1695)cgG>cgA	p.R565R	SRRM3_ENST00000326382.8_Silent_p.R565R					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						AGCGGCGCCGGGACTCGCCAA	0.746000													17	1					0	0	0.000175454	0	0
LEPR	3953	broad.mit.edu	37	1	66083654	66083654	+	Silent	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:66083654C>T	ENST00000349533.6	+	16	2405	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	LEPR_ENST00000344610.8_Silent_p.I740I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.I740I|LEPR_ENST00000371059.3_Silent_p.I740I|LEPR_ENST00000371060.3_Silent_p.I740I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	740	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAGTAAATATCGTGCAGTCAC	0.303000													14	48					0	0	0.000219431	0	0
ECE2	9718	broad.mit.edu	37	3	184001600	184001600	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:184001600G>A	ENST00000402825.3	+	8	1198	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	ECE2_ENST00000359140.4_Missense_Mutation_p.E253K|ECE2_ENST00000404464.3_Missense_Mutation_p.E282K|ECE2_ENST00000357474.5_Missense_Mutation_p.E328K|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	400	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGATTACATGGAGGAACTGGG	0.592000													8	3					0	0	1.12685e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				71	20					0	0	0.000147903	0	0
MCTP1	79772	broad.mit.edu	37	5	94050566	94050566	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr5:94050566T>C	ENST00000515393.1	-	20	2635	c.2636A>G	c.(2635-2637)aAt>aGt	p.N879S	MCTP1_ENST00000505078.1_Missense_Mutation_p.N395S|MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000312216.8_Missense_Mutation_p.N658S|MCTP1_ENST00000429576.2_Missense_Mutation_p.N572S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	879					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATAGATTTTATTTATAAATCC	0.378000													13	85					0	0	0.000151284	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374864	8374864	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:8374864C>T	ENST00000538603.1	-	7	1507	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.E317K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	317							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ATGGCGCTTTCGGGGATCTGG	0.632000													12	12					0	0	0.000151284	0	0
GABPB2	126626	broad.mit.edu	37	1	151079643	151079643	+	Silent	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:151079643C>T	ENST00000368918.3	+	7	1198	c.867C>T	c.(865-867)atC>atT	p.I289I	GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Silent_p.I251I|GABPB2_ENST00000368917.1_Silent_p.I251I	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	289					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AAACTTCAATCCCTACTGGAG	0.438000													15	18					0	0	2.31682e-05	0	0
FAM104A	84923	broad.mit.edu	37	17	71228388	71228388	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:71228388A>T	ENST00000405159.3	-	1	122	c.58T>A	c.(58-60)Tac>Aac	p.Y20N	C17orf80_ENST00000255557.4_5'UTR|FAM104A_ENST00000581110.1_Missense_Mutation_p.Y20N|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000583024.1_Missense_Mutation_p.Y20N|FAM104A_ENST00000403627.3_Missense_Mutation_p.Y20N	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	20										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GGTGGCGAGTACCCCTCAGTC	0.721000													9	24					0	0	6.40141e-05	0	0
HDAC2	3066	broad.mit.edu	37	6	114281154	114281154	+	Silent	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:114281154C>T	ENST00000519065.1	-	2	457	c.81G>A	c.(79-81)caG>caA	p.Q27Q	HDAC2_ENST00000398283.2_Silent_p.Q121Q|HDAC2_ENST00000519108.1_5'UTR|HDAC2_ENST00000368632.2_5'UTR			Q92769	HDAC2_HUMAN	histone deacetylase 2	27	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TGGGATGACCCTGTCCATAAT	0.328000													29	49					0	0	0.000227799	0	0
BCORL1	63035	broad.mit.edu	37	X	129149266	129149266	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chrX:129149266T>C	ENST00000540052.1	+	3	2562	c.2518T>C	c.(2518-2520)Tct>Cct	p.S840P	BCORL1_ENST00000303743.5_Missense_Mutation_p.S840P|BCORL1_ENST00000218147.7_Missense_Mutation_p.S840P|BCORL1_ENST00000359304.2_Missense_Mutation_p.S840P	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	840					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCACCAGGCGTCTCTGCTTTC	0.612000													13	32					0	0	2.31682e-05	0	0
HEATR1	55127	broad.mit.edu	37	1	236716882	236716882	+	Splice_Site	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:236716882T>C	ENST00000366582.3	-	43	6350	c.6237_splice	c.e43+1	p.K2079_splice	HEATR1_ENST00000366581.2_Splice_Site_p.K1998_splice	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2079					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GTTCCTAACCTTAGGCGAGGA	0.498000													18	41					0	0	3.10358e-05	0	0
GLI3	2737	broad.mit.edu	37	7	42085000	42085000	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:42085000T>C	ENST00000395925.3	-	6	893	c.809A>G	c.(808-810)tAt>tGt	p.Y270C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	270					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGCATGAAGATATTCCATGTG	0.498000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	311					0	0	1.12685e-05	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606177	21606177	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:21606177C>T	ENST00000281523.2	-	3	684		c.e3-1		ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_Splice_Site	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D							nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TCGGGTCCATCTGTAATGAGA	0.363000													10	41					0	0	3.86212e-05	0	0
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C	rs137871677	by1000genomes	TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P														p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000													6	94					0	0	8.12818e-05	0	0
TULP2	7288	broad.mit.edu	37	19	49391383	49391383	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:49391383A>G	ENST00000221399.3	-	8	916	c.772T>C	c.(772-774)Tcc>Ccc	p.S258P		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	258					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ATTGCCAAGGAGGCTTCGTGC	0.627000													5	23					0	0	1.23904e-05	0	0
DMRTA2	63950	broad.mit.edu	37	1	50884984	50884984	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:50884984G>A	ENST00000404795.3	-	3	1374	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	DMRTA2_ENST00000418121.1_Missense_Mutation_p.R328W	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	328	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						ACGCCTCGCCGGTGGCCTGGG	0.731000													10	26					0	0	6.40141e-05	0	0
ADCY9	115	broad.mit.edu	37	16	4016397	4016397	+	Silent	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr16:4016397G>A	ENST00000294016.3	-	11	3979	c.3441C>T	c.(3439-3441)cgC>cgT	p.R1147R		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1147	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGTCCACCACGCGCATCATCT	0.632000													32	48					0	0	4.66903e-05	0	0
PMS1	5378	broad.mit.edu	37	2	190719501	190719501	+	Silent	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:190719501A>G	ENST00000441310.2	+	9	1736	c.1503A>G	c.(1501-1503)ggA>ggG	p.G501G	PMS1_ENST00000418224.3_Silent_p.G325G|PMS1_ENST00000432292.3_Silent_p.G325G|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Silent_p.G462G|PMS1_ENST00000447232.2_Silent_p.G501G	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	501			G -> R (in incomplete HNPCC3; dbSNP:rs1145232).		mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGCAGGGGAAATATACTTA	0.343000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					13	54					0	0	0.00010058	0	0
DNAH9	1770	broad.mit.edu	37	17	11583132	11583132	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:11583132G>A	ENST00000262442.3	+	18	3480	c.3412G>A	c.(3412-3414)Gaa>Aaa	p.E1138K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1138K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1138	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGAAAGTTGAAAAAGGAGA	0.428000													44	120					0	0	0.000147903	0	0
RTTN	25914	broad.mit.edu	37	18	67742646	67742646	+	Silent	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr18:67742646A>G	ENST00000255674.6	-	33	4792	c.4506T>C	c.(4504-4506)tgT>tgC	p.C1502C	RTTN_ENST00000437017.1_Silent_p.C1502C|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1502							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AATCAAACATACACCGTCCTA	0.308000													26	69					0	0	3.70037e-05	0	0
DNAH9	1770	broad.mit.edu	37	17	11648356	11648356	+	Silent	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:11648356G>A	ENST00000262442.3	+	31	6422	c.6354G>A	c.(6352-6354)gcG>gcA	p.A2118A	DNAH9_ENST00000454412.2_Silent_p.A2118A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2118	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAGGAAGGCGATAGTGGATC	0.517000													22	58					0	0	0.000117367	0	0
CNTN2	6900	broad.mit.edu	37	1	205031687	205031687	+	Silent	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:205031687A>G	ENST00000331830.4	+	10	1514	c.1230A>G	c.(1228-1230)ctA>ctG	p.L410L		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	410	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCGCCGAGCTAGCCGTGCAAG	0.572000													5	37					0	0	8.12818e-05	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104341	26104341	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:26104341C>G	ENST00000377803.2	+	1	238	c.166C>G	c.(166-168)Cga>Gga	p.R56G		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	56					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TGAGGAGACTCGAGGTGTGCT	0.522000													9	28					0	0	3.86212e-05	0	0
GYS2	2998	broad.mit.edu	37	12	21712632	21712632	+	Silent	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:21712632A>G	ENST00000261195.2	-	9	1436	c.1182T>C	c.(1180-1182)caT>caC	p.H394H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	394					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTTCACAGAATGTGCAACAT	0.303000													12	56					0	0	0.000219431	0	0
STYXL1	51657	broad.mit.edu	37	7	75625914	75625914	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:75625914A>C	ENST00000248600.1	-	9	1156	c.814T>G	c.(814-816)Tcc>Gcc	p.S272A	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.S272A|STYXL1_ENST00000359697.3_Missense_Mutation_p.S272A|STYXL1_ENST00000340062.5_Missense_Mutation_p.S176A	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	272	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TAGGCCCAGGACCTCTATGAA	0.488000													11	52					0	0	0.000219431	0	0
ZNF7	7553	broad.mit.edu	37	8	146068539	146068539	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr8:146068539A>G	ENST00000528372.1	+	5	2287	c.2047A>G	c.(2047-2049)Att>Gtt	p.I683V	ZNF7_ENST00000325241.6_Missense_Mutation_p.I683V|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.I587V|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.I694V			P17097	ZNF7_HUMAN	zinc finger protein 7	683					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GCATCAAAAAATTCACATGGG	0.343000													5	164					0	0	1.12685e-05	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809456	18809456	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:18809456C>T	ENST00000400664.1	+	1	2033	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	661						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGCCGGCCCCACCGGGGG	0.682000													8	15					0	0	0.000157383	0	0
CHST4	10164	broad.mit.edu	37	16	71571634	71571634	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr16:71571634G>A	ENST00000338482.5	+	3	1397	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	CHST4_ENST00000539698.3_Missense_Mutation_p.D352N|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.D352N|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	352					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.D352N(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AGCCTGTGGCGATGCCATGAA	0.512000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	9					0	0	5.49717e-05	0	0
DLX1	1745	broad.mit.edu	37	2	172950461	172950461	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:172950461T>C	ENST00000361725.4	+	1	508	c.56T>C	c.(55-57)gTg>gCg	p.V19A	DLX1_ENST00000341900.6_Missense_Mutation_p.V19A	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	19						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGCAAGGCGGTGTTTATGGAG	0.582000													10	50					0	0	3.86212e-05	0	0
TG	7038	broad.mit.edu	37	8	133945820	133945820	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr8:133945820G>A	ENST00000220616.4	+	24	4871	c.4831G>A	c.(4831-4833)Gag>Aag	p.E1611K	TG_ENST00000377869.1_Missense_Mutation_p.E1554K|TG_ENST00000542445.1_Missense_Mutation_p.E45K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1611					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACAGAGGACGAGGCCTGCAG	0.577000													43	32					0	0	0.000147903	0	0
MAP4K1	11184	broad.mit.edu	37	19	39078451	39078451	+	Nonstop_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:39078451T>C	ENST00000591517.1	-	32	2529	c.2501A>G	c.(2500-2502)tAg>tGg	p.*834W	MAP4K1_ENST00000396857.2_Silent_p.V801V|MAP4K1_ENST00000589130.1_Silent_p.V797V|MAP4K1_ENST00000586296.1_Silent_p.V375V	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	0					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCTCCACCACTACAGGCCTGT	0.473000													13	31					0	0	7.07596e-05	0	0
WRAP73	49856	broad.mit.edu	37	1	3551604	3551604	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:3551604A>G	ENST00000378322.3	-	8	831	c.773T>C	c.(772-774)aTc>aCc	p.I258T	WRAP73_ENST00000270708.7_Missense_Mutation_p.I258T			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	258						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AAACTCCGTGATCATTTTCCA	0.562000													32	95					0	0	0.000228196	0	0
ZNF112	7665	broad.mit.edu	37	19	44832140	44832140	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:44832140A>T	ENST00000354340.4	-	4	2221	c.2170T>A	c.(2170-2172)Ttc>Atc	p.F724I	ZNF112_ENST00000337401.4_Missense_Mutation_p.F730I|ZNF112_ENST00000536500.1_Missense_Mutation_p.F747I	NM_013380.3	NP_037512.3			zinc finger protein 112																		CTCTGACTGAAGCCCTTTCCA	0.443000													31	95					0	0	0.000109025	0	0
PRG4	10216	broad.mit.edu	37	1	186276943	186276943	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:186276943C>G	ENST00000445192.2	+	7	2137	c.2092C>G	c.(2092-2094)Cca>Gca	p.P698A	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P605A|PRG4_ENST00000367486.3_Missense_Mutation_p.P655A|PRG4_ENST00000367483.4_Missense_Mutation_p.P657A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	698	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GGAGCCTGCTCCAACTACCCC	0.592000													10	33					0	0	0.00010058	0	0
VWA7	80737	broad.mit.edu	37	6	31743739	31743739	+	Splice_Site	SNP	A	A	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:31743739A>T	ENST00000375686.3	-	3	751		c.e3+1		VWA7_ENST00000467576.1_Intron|VWA7_ENST00000375688.4_Splice_Site|VWA7_ENST00000447450.1_Splice_Site	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7							extracellular region											CCCTGTTCTCACCTGCAGGGC	0.642000													32	52					0	0	0.000159656	0	0
SLC31A2	1318	broad.mit.edu	37	9	115925079	115925079	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr9:115925079T>C	ENST00000259392.3	+	4	447	c.314T>C	c.(313-315)gTc>gCc	p.V105A		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2	105						integral to plasma membrane	copper ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7						ATCCAGGTGGTCATCGGCTAC	0.473000													10	171					0	0	6.40141e-05	0	0
BAZ1B	9031	broad.mit.edu	37	7	72856840	72856840	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:72856840T>C	ENST00000339594.4	-	19	4476	c.4138A>G	c.(4138-4140)Atc>Gtc	p.I1380V	BAZ1B_ENST00000404251.1_Missense_Mutation_p.I1380V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1380	Bromo.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGTGCGTGATCACATCATAG	0.522000													21	92					0	0	4.16121e-05	0	0
SLC5A8	160728	broad.mit.edu	37	12	101555752	101555752	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:101555752C>T	ENST00000536262.2	-	13	2188	c.1630_splice	c.e13+1	p.G544_splice		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	544					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATAGTTACCTGTTGATAAA	0.308000													119	141					0	0	0.000147903	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16863173	16863173	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:16863173C>T	ENST00000355661.3	-	9	803	c.793G>A	c.(793-795)Gac>Aac	p.D265N	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D265N|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D265N			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	265	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCCTGGGTGTCGGCACTGAAG	0.587000													30	20					0	0	5.84002e-05	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960020	117960020	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chrX:117960020C>G	ENST00000310164.2	+	4	1320	c.813C>G	c.(811-813)gaC>gaG	p.D271E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ATACCCTCGACGACTCCGATG	0.582000													31	5					0	0	5.84002e-05	0	0
CABP1	9478	broad.mit.edu	37	12	121098957	121098957	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:121098957C>A	ENST00000453000.1	+	5	1343	c.831C>A	c.(829-831)caC>caA	p.H277Q	CABP1_ENST00000351200.2_Missense_Mutation_p.H138Q|CABP1_ENST00000288616.3_Missense_Mutation_p.H198Q|CABP1_ENST00000316803.3_Missense_Mutation_p.H341Q			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	341	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTGGGACACCGAGACATAG	0.522000													87	335					3.59693e-26	1.88626e-24	0.000147903	1	0
PSG6	5675	broad.mit.edu	37	19	43411754	43411754	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:43411754C>T	ENST00000187910.2	-	4	1024	c.959G>A	c.(958-960)aGt>aAt	p.S320N	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.S320N	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GACTGGGTTACTGCGGATGCC	0.507000													18	48					0	0	7.07596e-05	0	0
FAM63A	55793	broad.mit.edu	37	1	150971957	150971957	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:150971957G>A	ENST00000361936.5	-	8	1823	c.869C>T	c.(868-870)aCc>aTc	p.T290I	FAM63A_ENST00000312210.5_Missense_Mutation_p.T148I|FAM63A_ENST00000493834.2_Missense_Mutation_p.T195I|FAM63A_ENST00000361738.6_Missense_Mutation_p.T338I|FAM63A_ENST00000470877.1_5'UTR	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	290							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGGGCCGCGGTGGTCTCCAG	0.547000													41	99					0	0	0.000125731	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18573894	18573894	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:18573894C>T	ENST00000433979.1	+	16	2328	c.2212C>T	c.(2212-2214)Cgt>Tgt	p.R738C	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R738C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R779C	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	738					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCAAGAAATTCGTAAAGTGGC	0.363000													34	68					0	0	0.000109025	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522284	124522284	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr9:124522284A>G	ENST00000408936.3	+	6	918	c.736A>G	c.(736-738)Acg>Gcg	p.T246A	DAB2IP_ENST00000309989.1_Missense_Mutation_p.T122A|DAB2IP_ENST00000259371.2_Missense_Mutation_p.T218A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	246	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TGCCCGCACCACGGGCAAGCT	0.597000													4	33					0	0	1.23904e-05	0	0
PCDH7	5099	broad.mit.edu	37	4	30725854	30725854	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr4:30725854A>G	ENST00000361762.2	+	1	3818	c.2810A>G	c.(2809-2811)gAc>gGc	p.D937G	PCDH7_ENST00000543491.1_Missense_Mutation_p.D937G	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	937					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CCTAAAAAGGACAAGAAAAAC	0.398000													25	60					0	0	9.22233e-05	0	0
CCNL1	57018	broad.mit.edu	37	3	156866121	156866121	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:156866121T>C	ENST00000295926.3	-	11	1608	c.1490A>G	c.(1489-1491)gAc>gGc	p.D497G	CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	497					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TTCACGCCTGTCCCTATGATG	0.512000													5	100					0	0	1.23904e-05	0	0
TBC1D29	26083	broad.mit.edu	37	17	28890334	28890334	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:28890334G>A	ENST00000580161.1	+	6	2841	c.344G>A	c.(343-345)aGg>aAg	p.R115K	TBC1D29_ENST00000579181.1_Missense_Mutation_p.R115K|TBC1D29_ENST00000584297.1_3'UTR			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	115						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				ACTCCTCCAAGGGTGCCAGGA	0.572000													6	23					0	0	3.59834e-05	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1842704	1842704	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr8:1842704C>T	ENST00000518288.1	+	14	1644	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	ARHGEF10_ENST00000398560.1_Missense_Mutation_p.S455F|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S431F|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S469F|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.S494F|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S494F			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	494	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAGTGGGACTCCGTGGAAATG	0.552000													23	20					0	0	9.22233e-05	0	0
ACAD10	80724	broad.mit.edu	37	12	112182517	112182517	+	Silent	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:112182517T>C	ENST00000455480.2	+	14	2055	c.1878T>C	c.(1876-1878)gaT>gaC	p.D626D	ACAD10_ENST00000313698.4_Silent_p.D595D|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Silent_p.D197D|ACAD10_ENST00000549590.1_Silent_p.D595D	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	595							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGGCGTGGGATTTCGCAGTCA	0.493000													4	132					0	0	0.00024832	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45553649	45553649	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:45553649A>G	ENST00000359600.5	-	2	1061	c.856T>C	c.(856-858)Tat>Cat	p.Y286H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	286							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GTGATTAAATATTGAATAAAC	0.418000													7	84					0	0	8.12818e-05	0	0
STON1	11037	broad.mit.edu	37	2	48809275	48809275	+	Silent	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:48809275C>T	ENST00000309835.3	+	1	1513	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	STON1-GTF2A1L_ENST00000394751.3_Silent_p.I501I|STON1-GTF2A1L_ENST00000394754.1_Silent_p.I501I|STON1-GTF2A1L_ENST00000309827.2_Silent_p.I501I|STON1-GTF2A1L_ENST00000402114.2_Silent_p.I501I|STON1_ENST00000406226.1_Silent_p.I501I|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I501I|STON1_ENST00000404752.1_Silent_p.I501I					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATCAAGAATCATTAAGTTTG	0.378000													52	70					0	0	0.000147903	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439579	150439579	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:150439579A>G	ENST00000358647.3	+	3	719	c.352A>G	c.(352-354)Atc>Gtc	p.I118V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTTCTGGTGATCCAGCTGGG	0.577000													10	80					0	0	6.40141e-05	0	0
THSD7A	221981	broad.mit.edu	37	7	11676265	11676265	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:11676265T>C	ENST00000423059.3	-	2	765	c.514A>G	c.(514-516)Atc>Gtc	p.I172V	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	172						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCACAGATGATATCCTCCGCA	0.498000										HNSCC(18;0.044)			14	104					0	0	0.000219431	0	0
MKRN1	23608	broad.mit.edu	37	7	140156594	140156594	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:140156594C>T	ENST00000255977.2	-	5	1068	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	MKRN1_ENST00000474576.1_Missense_Mutation_p.G218R|MKRN1_ENST00000437223.2_Missense_Mutation_p.G16R|MKRN1_ENST00000443720.2_Missense_Mutation_p.G282R|MKRN1_ENST00000480552.1_Silent_p.V65V	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	282							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					ATGCAGATCCCACACACCATG	0.552000													10	50					0	0	6.40141e-05	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471868	61471868	+	Silent	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr18:61471868G>A	ENST00000398019.2	+	8	1467	c.1142G>A	c.(1141-1143)tGa>tAa	p.*381*	SERPINB7_ENST00000546027.1_Silent_p.*381*|SERPINB7_ENST00000540675.1_Silent_p.*364*|SERPINB7_ENST00000336429.2_Silent_p.*381*	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	0					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCTTGCCCTTGAAAATCCAAT	0.403000													34	6					0	0	0.000159656	0	0
LRRN1	57633	broad.mit.edu	37	3	3888346	3888346	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:3888346C>T	ENST00000319331.3	+	2	2782	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	674						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAACCTCTTCAATCCCACTA	0.438000													16	20					0	0	0.000132079	0	0
LPPR2	64748	broad.mit.edu	37	19	11472104	11472104	+	Silent	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:11472104G>A	ENST00000251473.5	+	6	979	c.603G>A	c.(601-603)gcG>gcA	p.A201A	DKFZP761J1410_ENST00000591608.1_Silent_p.A176A	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TGGCCGCCGCGCGCCGCGCCT	0.701000													14	25					0	0	0.000151284	0	0
TANC1	85461	broad.mit.edu	37	2	160042337	160042337	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:160042337G>A	ENST00000263635.6	+	15	2783	c.2546G>A	c.(2545-2547)cGt>cAt	p.R849H	TANC1_ENST00000454300.1_Missense_Mutation_p.R743H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	849						cell junction|postsynaptic density|postsynaptic membrane	binding	p.R849H(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATGTTCTCGCGTCAGGAGGGC	0.572000											OREG0015033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	29					0	0	4.16121e-05	0	0
SGCE	8910	broad.mit.edu	37	7	94214819	94214819	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:94214819A>G	ENST00000265735.7	-	11	1416	c.1306T>C	c.(1306-1308)Tat>Cat	p.Y436H	SGCE_ENST00000447873.1_Missense_Mutation_p.Y427H|SGCE_ENST00000437425.2_Missense_Mutation_p.Y395H|SGCE_ENST00000445866.2_Missense_Mutation_p.Y461H|SGCE_ENST00000428696.2_Silent_p.G438G	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	436					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTCAGGGATACCATTTACCT	0.353000													79	417					0	0	0.000147903	0	0
TNF	7124	broad.mit.edu	37	6	31543638	31543638	+	Silent	SNP	C	C	T	rs141667614		TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:31543638C>T	ENST00000449264.2	+	1	295	c.120C>T	c.(118-120)atC>atT	p.I40I		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	40					activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	CCTTCCTGATCGTGGCAGGCG	0.657000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				13	25					0	0	5.01169e-05	0	0
TLR7	51284	broad.mit.edu	37	X	12904178	12904178	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chrX:12904178A>T	ENST00000380659.3	+	3	690	c.551A>T	c.(550-552)tAt>tTt	p.Y184F		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	184					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CAAAACTGTTATTATCGAAAT	0.378000													26	7					0	0	0.000117367	0	0
MON1B	22879	broad.mit.edu	37	16	77232194	77232194	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr16:77232194A>G	ENST00000248248.3	+	6	1983	c.1633A>G	c.(1633-1635)Act>Gct	p.T545A	MON1B_ENST00000545553.1_Missense_Mutation_p.T399A|MON1B_ENST00000439557.2_Missense_Mutation_p.T436A	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	545							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TGGCTTGTTCACTGGACTCTG	0.537000													14	30					0	0	0.000151284	0	0
RYR2	6262	broad.mit.edu	37	1	237941978	237941978	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:237941978G>T	ENST00000366574.2	+	88	12105	c.11788G>T	c.(11788-11790)Ggg>Tgg	p.G3930W	RYR2_ENST00000360064.6_Missense_Mutation_p.G3936W|RYR2_ENST00000542537.1_Missense_Mutation_p.G3914W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3930					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCTTGCACTGGGAATCAACA	0.443000													5	48					3.59834e-05	0.00180392	3.59834e-05	1	0
PSG6	5675	broad.mit.edu	37	19	43420344	43420344	+	Silent	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:43420344G>A	ENST00000601833.1	-	2	1430	c.147C>T	c.(145-147)acC>acT	p.T49T	PSG6_ENST00000187910.2_Silent_p.T120T|PSG6_ENST00000402603.4_Silent_p.T120T|PSG6_ENST00000292125.2_Silent_p.T120T					pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGATGTGTAAGGTGTAGGATC	0.473000													38	120					0	0	0.000270559	0	0
KLHL17	339451	broad.mit.edu	37	1	899317	899317	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:899317C>T	ENST00000338591.3	+	9	1480	c.1373C>T	c.(1372-1374)cCc>cTc	p.P458L		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	458	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCTACGACCCCCTGACCGGA	0.682000													41	46					0	0	0.000147903	0	0
LIPT1	51601	broad.mit.edu	37	2	99779004	99779004	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:99779004G>A	ENST00000393477.3	+	4	936	c.584G>A	c.(583-585)aGc>aAc	p.S195N	MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.S195N|LIPT1_ENST00000393473.2_Missense_Mutation_p.S195N|LIPT1_ENST00000393474.3_Missense_Mutation_p.S195N|LIPT1_ENST00000340066.1_Missense_Mutation_p.S195N	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	195					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TTGCTAAAGAGCCCTTACCAA	0.443000													15	55					0	0	2.31682e-05	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													10	96					0	0	2.31682e-05	0	0
EEPD1	80820	broad.mit.edu	37	7	36194142	36194142	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:36194142A>G	ENST00000242108.4	+	2	927	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	EEPD1_ENST00000534978.1_Missense_Mutation_p.Y70C	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	70					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TACCGAGAGTATATCGGTGGC	0.592000													24	133					0	0	7.16444e-05	0	0
RPL3	6122	broad.mit.edu	37	22	39712780	39712780	+	Silent	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr22:39712780C>T	ENST00000216146.4	-	4	605	c.432G>A	c.(430-432)aaG>aaA	p.K144K	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.K92K	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	144					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					TCTCCAGCTGCTTCTTGCCAT	0.547000											OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	106					0	0	0.000219431	0	0
SLFN5	162394	broad.mit.edu	37	17	33592480	33592480	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:33592480G>T	ENST00000299977.4	+	5	2397	c.2249G>T	c.(2248-2250)tGg>tTg	p.W750L	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	750					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GAACCTAAATGGGCTCAAGGT	0.458000													8	81					1.58986e-06	8.12359e-05	3.86212e-05	1	0
IK	3550	broad.mit.edu	37	5	140037240	140037240	+	Silent	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr5:140037240G>A	ENST00000417647.2	+	10	1042	c.903G>A	c.(901-903)aaG>aaA	p.K301K		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	301					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAAGAAGGATAAAGGTA	0.478000													17	33					0	0	5.01169e-05	0	0
PHTF1	10745	broad.mit.edu	37	1	114253052	114253052	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:114253052A>G	ENST00000369604.1	-	11	1576	c.1093T>C	c.(1093-1095)Tca>Cca	p.S365P	PHTF1_ENST00000393357.2_Missense_Mutation_p.S365P|PHTF1_ENST00000369598.1_Missense_Mutation_p.S320P|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.S312P|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000357783.2_Missense_Mutation_p.S365P|PHTF1_ENST00000369600.1_Missense_Mutation_p.S312P			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	365						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCTTCTTGACATGTTGAGG	0.458000													12	41					0	0	0.000151284	0	0
AXDND1	126859	broad.mit.edu	37	1	179503928	179503928	+	Silent	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:179503928T>C	ENST00000367618.3	+	25	3249	c.2862T>C	c.(2860-2862)caT>caC	p.H954H		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	954	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGAAACTTCATCATACCCTTA	0.353000													6	105					0	0	3.59834e-05	0	0
HSPB8	26353	broad.mit.edu	37	12	119617327	119617327	+	Silent	SNP	C	C	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:119617327C>G	ENST00000281938.2	+	1	881	c.210C>G	c.(208-210)ccC>ccG	p.P70P		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	70					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCATGGTGCCCCGGGGCCCCA	0.682000													18	22					0	0	9.7654e-05	0	0
GABRB3	2562	broad.mit.edu	37	15	26793000	26793000	+	Silent	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr15:26793000G>A	ENST00000541819.2	-	10	1632	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	GABRB3_ENST00000299267.4_Silent_p.I454I|GABRB3_ENST00000400188.3_Silent_p.I383I|GABRB3_ENST00000311550.5_Silent_p.I454I|GABRB3_ENST00000545868.1_Silent_p.I369I			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	454					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGGAAACACGATCCTGGACC	0.398000													27	52					0	0	0.000227799	0	0
USP37	57695	broad.mit.edu	37	2	219360645	219360645	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:219360645A>G	ENST00000258399.3	-	14	1722	c.1310T>C	c.(1309-1311)tTg>tCg	p.L437S	USP37_ENST00000454775.1_Missense_Mutation_p.L437S|USP37_ENST00000418019.1_Missense_Mutation_p.L437S|USP37_ENST00000415516.1_Missense_Mutation_p.L365S	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	437					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CAGCTGGTCCAAACACTGACT	0.348000													13	101					0	0	0.00010058	0	0
CPT1B	1375	broad.mit.edu	37	22	51009877	51009877	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr22:51009877T>C	ENST00000360719.2	-	14	1804	c.1667A>G	c.(1666-1668)aAa>aGa	p.K556R	CPT1B_ENST00000440709.1_Missense_Mutation_p.K475R|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Missense_Mutation_p.K556R|CPT1B_ENST00000312108.7_Missense_Mutation_p.K556R|CPT1B_ENST00000405237.3_Missense_Mutation_p.K556R|CPT1B_ENST00000434492.2_Missense_Mutation_p.K351R|CPT1B_ENST00000457250.1_Missense_Mutation_p.K522R	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	556	Coenzyme A binding (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GATGAGGCCTTTGCCAAAGGG	0.617000													7	158					0	0	0.000157383	0	0
PRSS50	29122	broad.mit.edu	37	3	46753939	46753939	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:46753939C>T	ENST00000460241.1	-	11	2625	c.955G>A	c.(955-957)Gag>Aag	p.E319K	PRSS50_ENST00000315170.7_Missense_Mutation_p.E319K			Q9UI38	TSP50_HUMAN	protease, serine, 50	319	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CACGTGCCCTCCATGGAGCAG	0.627000													5	15					0	0	1.23904e-05	0	0
CNTN2	6900	broad.mit.edu	37	1	205039135	205039135	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:205039135C>T	ENST00000331830.4	+	18	2661	c.2377C>T	c.(2377-2379)Cgc>Tgc	p.R793C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	793	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGCTACAACCGCCGCGGGGA	0.667000													14	12					0	0	2.31682e-05	0	0
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:21606712T>C	ENST00000392288.2	+	4	1360	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348000													3	34					0	0	6.4e-05	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494091	21494091	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr20:21494091A>G	ENST00000377142.4	-	1	573	c.217T>C	c.(217-219)Tac>Cac	p.Y73H		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	73					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CAGCGCGTGTACGGGTTGTCG	0.682000													8	36					0	0	3.86212e-05	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85441228	85441228	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:85441228A>G	ENST00000393217.2	+	6	719	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	220	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAAAAGAAGAAATTAGAGAA	0.313000													22	165					0	0	9.22233e-05	0	0
TRANK1	9881	broad.mit.edu	37	3	36888812	36888812	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:36888812G>A	ENST00000429976.2	-	15	5028	c.4781C>T	c.(4780-4782)tCc>tTc	p.S1594F	TRANK1_ENST00000463984.1_5'UTR|TRANK1_ENST00000428977.2_Missense_Mutation_p.S1044F|TRANK1_ENST00000301807.6_Missense_Mutation_p.S1044F			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1594					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTGAATGAGGAAATGATCTT	0.458000													8	23					0	0	0.000157383	0	0
EXO1	9156	broad.mit.edu	37	1	242016700	242016700	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:242016700C>T	ENST00000366548.3	+	6	915	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	EXO1_ENST00000348581.5_Missense_Mutation_p.R108C|EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000518483.1_Missense_Mutation_p.R108C	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	108					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GCAACTTCTTCGTGAGGGGAA	0.418000								Editing and processing nucleases					27	65					0	0	0.000184323	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751283	162751283	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:162751283G>A	ENST00000375514.5	+	11	1519	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Missense_Mutation_p.E401K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.G400E|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G430E|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G400E|SLC4A10_ENST00000446997.1_Missense_Mutation_p.G430E	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	430					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTCCCTCCTGGAGAATGGGAT	0.368000													56	73					0	0	0.000147903	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101078	27101078	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:27101078G>C	ENST00000359193.2	+	1	247	c.228G>C	c.(226-228)aaG>aaC	p.K76N		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	76					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						ACAACAAGAAGACCCGCATCA	0.662000													4	35					0	0	0.00024832	0	0
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cfs	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													2	4	---	---	---	---					
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													10	348	---	---	---	---					
ZNF658	26149	broad.mit.edu	37	9	40789482	40789483	+	Splice_Site	INS	-	-	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr9:40789482_40789483insA	ENST00000602553.1	-	2	94		c.e2-2		ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCATGTGCCTAAAAAAAAAAA	0.426													2	4	---	---	---	---					
MIRLET7DHG	158257	broad.mit.edu	37	9	96941099	96941100	+	RNA	INS	-	-	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr9:96941099_96941100insA	ENST00000416309.2	-	0	164				RP11-2B6.3_ENST00000602703.1_lincRNA	NR_046163.1																						AGACCAGCAAGAAAAAAAAAAT	0.376													5	11	---	---	---	---					
TSSC2	650368	broad.mit.edu	37	11	3424761	3424761	+	RNA	DEL	A	A	-			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:3424761delA	ENST00000529482.1	+	0	845																											gtctgtcaggaaaaaaaaaaa	0.413													4	7	---	---	---	---					
RNF169	254225	broad.mit.edu	37	11	74547223	74547223	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:74547223delA	ENST00000299563.4	+	6	1588	c.1575delA	c.(1573-1575)ccfs	p.P525fs		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	525							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTGAGATCCCACTGGAAACCT	0.488													21	71	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89876433	89876433	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr15:89876433delC	ENST00000268124.5	-	2	886	c.553delG	c.(553-555)tafs	p.V185fs	POLG_ENST00000442287.2_Frame_Shift_Del_p.V185fs|POLG_ENST00000525806.1_5'UTR	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	185					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCCACGGGTACGGCCTCCCCC	0.716								DNA polymerases (catalytic subunits)					6	5	---	---	---	---					
ZNF528-AS1	102724105	broad.mit.edu	37	19	52896073	52896074	+	RNA	DEL	TA	TA	-			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:52896073_52896074delTA	ENST00000601562.1	-	0	784																											GTGGAAGCTGTATATATATATA	0.460													2	4	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcc>g	p.AS587del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	587					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.596													7	226	---	---	---	---