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
BCAS3	54828	broad.mit.edu	37	17	59152341	59152341	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:59152341C>T	ENST00000589222.1	+	20	2158	c.2090C>T	c.(2089-2091)tCt>tTt	p.S697F	BCAS3_ENST00000408905.3_Missense_Mutation_p.S697F|BCAS3_ENST00000585744.1_Missense_Mutation_p.S483F|BCAS3_ENST00000407086.3_Missense_Mutation_p.S697F|BCAS3_ENST00000588874.1_Missense_Mutation_p.S468F|BCAS3_ENST00000588462.1_Missense_Mutation_p.S712F|BCAS3_ENST00000390652.5_Missense_Mutation_p.S712F			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	712						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTTTAGCTTCTGACCATAGT	0.378000													64	112					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152772267	152772267	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:152772267G>A	ENST00000367255.5	-	26	3702	c.3101C>T	c.(3100-3102)tCt>tTt	p.S1034F	SYNE1_ENST00000448038.1_Missense_Mutation_p.S1041F|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1034F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1034F|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1024F|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1034F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1041F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1100F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1034					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCTACAGAGGCTAAGAA	0.443000										HNSCC(10;0.0054)			37	70					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237944916	237944916	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:237944916A>T	ENST00000366574.2	+	89	12249	c.11932A>T	c.(11932-11934)Atg>Ttg	p.M3978L	RYR2_ENST00000542537.1_Missense_Mutation_p.M3962L|RYR2_ENST00000360064.6_Missense_Mutation_p.M3984L|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3978					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)			GCAGAAGGATATGGTGGTCAT	0.318000													3	5					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66015201	66015201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:66015201G>A	ENST00000443035.3	-	12	1788	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*	DENND4A_ENST00000431932.2_Nonsense_Mutation_p.Q525*	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GCCAATTGCTGATGCAAATTA	0.308000													7	27					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46771856	46771856	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:46771856C>T	ENST00000394809.4	-	3	883	c.768G>A	c.(766-768)gaG>gaA	p.E256E	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	256					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCTGAGGTTCTCGCTGGGTG	0.647000													11	42					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107956668	107956668	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:107956668C>G	ENST00000285311.3	-	1	786	c.81G>C	c.(79-81)caG>caC	p.Q27H	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	27					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AACTGCCGATCTGTGAGCTCT	0.647000													4	166					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101887981	101887981	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:101887981C>T	ENST00000398181.2	-	15	2170	c.1857G>A	c.(1855-1857)ggG>ggA	p.G619G	PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000344273.2_Splice_Site_p.E635K|PCSK6_ENST00000348070.1_Intron|PCSK6_ENST00000561177.1_Intron	NM_138323.1|NM_138325.2	NP_612196.1|NP_612198.2	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	620	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			agtccaggttccctggaaaac	0.522000													15	31					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195453332	195453332	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:195453332G>A	ENST00000320736.6	+	3	1471	c.1345G>A	c.(1345-1347)Ggg>Agg	p.G449R	MUC20_ENST00000445522.2_Missense_Mutation_p.G585R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R|MUC20_ENST00000447234.2_Missense_Mutation_p.G620R			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	620					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGCAGCCGAGGGACGAACAG	0.612000													4	107					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65547046	65547046	+	Silent	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:65547046T>C	ENST00000532090.2	-	2	1128	c.918A>G	c.(916-918)gcA>gcG	p.A306A		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	249	Leu-rich.						protein binding			lung(1)	1						GCTTGAAGAGTGCCGGTGGCT	0.642000													5	6					0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40817733	40817733	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:40817733G>A	ENST00000251412.7	+	8	930	c.731G>A	c.(730-732)cGc>cAc	p.R244H		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	244					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		ACCACCCTGCGCTACCCCGGC	0.637000													78	162					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	137					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50686355	50686355	+	Missense_Mutation	SNP	G	G	A	rs139748706		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:50686355G>A	ENST00000216271.5	-	13	1653	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A414V|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.A384V	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	434					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGGCTGACGCTTCCTGTTG	0.652000													17	32					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133450	57133450	+	Silent	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:57133450C>G	ENST00000328070.6	+	3	1029	c.795C>G	c.(793-795)acC>acG	p.T265T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	265						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACGCACACCGGGGAGAAGC	0.672000													20	94					0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68531243	68531243	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:68531243G>C	ENST00000256443.3	+	2	192	c.89G>C	c.(88-90)aGa>aCa	p.R30T	CDK7_ENST00000514676.1_Missense_Mutation_p.R30T|CDK7_ENST00000502604.1_5'UTR|CDK7_ENST00000513629.1_3'UTR	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	30	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TACAAGGCCAGAGATAAGAAC	0.333000								Nucleotide excision repair (NER)					16	42					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39262725	39262725	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr13:39262725T>A	ENST00000280481.7	+	1	1460	c.1244T>A	c.(1243-1245)gTg>gAg	p.V415E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	415					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTGGAGGTAGTGGATCTAGAA	0.532000													18	55					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61012730	61012730	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:61012730C>T	ENST00000373867.3	-	13	1574	c.1109G>A	c.(1108-1110)cGt>cAt	p.R370H	FAM13C_ENST00000468840.2_Missense_Mutation_p.R371H|FAM13C_ENST00000373868.2_Missense_Mutation_p.R454H|FAM13C_ENST00000435852.2_Missense_Mutation_p.R454H|FAM13C_ENST00000419214.2_Missense_Mutation_p.R356H|FAM13C_ENST00000277705.6_Missense_Mutation_p.R474H|FAM13C_ENST00000442566.3_Missense_Mutation_p.R475H	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	454										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCCTGTGGACGGTCTTCATC	0.483000													29	53					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34077315	34077315	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:34077315C>T	ENST00000254466.6	-	2	435	c.408G>A	c.(406-408)gaG>gaA	p.E136E	GAS2L2_ENST00000587565.1_Silent_p.E136E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	136	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCACCAAGTCCTCCGTCTCGA	0.662000													27	260					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239602	160239602	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:160239602C>T	ENST00000610273.1	+	16	1311	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P	PNLDC1_ENST00000392167.3_Silent_p.P391P	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACCCCGTGCCCGAGTCATCCT	0.552000													18	37					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325463	152325463	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:152325463C>T	ENST00000388718.5	-	3	4871	c.4799G>A	c.(4798-4800)gGc>gAc	p.G1600D	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1600							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGGCTTGGCCGTAAGTGTG	0.507000													145	131					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72193853	72193853	+	RNA	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:72193853G>A	ENST00000343721.5	-	0	312				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ATTTCAGGCTGGTCCATCTTC	0.423000													13	9					0	0	1	0	0
KLRC4-KLRK1	100528032	broad.mit.edu	37	12	10560257	10560257	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:10560257G>C	ENST00000539300.1	-	4	445	c.446C>G	c.(445-447)tCt>tGt	p.S149C	KLRC4_ENST00000309384.1_Missense_Mutation_p.L158V																							ATTATCTATAGAAAGCAGATC	0.333000													61	180					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66899519	66899519	+	Silent	SNP	G	G	A	rs144614574		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:66899519G>A	ENST00000269080.2	-	18	2537	c.2400C>T	c.(2398-2400)ctC>ctT	p.L800L	ABCA8_ENST00000430352.2_Silent_p.L840L|ABCA8_ENST00000586539.1_Silent_p.L840L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	800						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCTGTCGCCAGAGAGCCACAC	0.433000													69	133					0	0	1	0	0
WNT8A	7478	broad.mit.edu	37	5	137426224	137426224	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:137426224G>A	ENST00000506684.1	+	5	808	c.572G>A	c.(571-573)aGa>aAa	p.R191K	WNT8A_ENST00000398754.1_Missense_Mutation_p.R173K			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	173					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGGCAGTGAGAGCCACCATG	0.478000													21	30					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639978	3639978	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:3639978C>A	ENST00000294008.3	-	12	4301	c.3661G>T	c.(3661-3663)Gcg>Tcg	p.A1221S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1221	Interaction with PLK1 and TERF2-TERF2IP.		A -> V (in dbSNP:rs3827530).		DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCCGGCAGCGCCCCCTCATCC	0.607000								Direct reversal of damage					17	45					5.35267e-07	5.45803e-07	1	1	0
EIF4G3	8672	broad.mit.edu	37	1	21186926	21186926	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:21186926C>G	ENST00000602326.1	-	22	3629	c.3046G>C	c.(3046-3048)Gag>Cag	p.E1016Q	EIF4G3_ENST00000536266.1_Missense_Mutation_p.E614Q|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1016Q|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E1010Q|EIF4G3_ENST00000537738.1_Missense_Mutation_p.E500Q|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E1010Q|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E730Q	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1010	eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTCCTTTGCTCTTCTTGTTCT	0.428000													58	63					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16464437	16464437	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:16464437T>C	ENST00000358432.5	-	5	1377	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	408	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGTGAAGGTGTAGTTCATGTG	0.627000													46	36					0	0	1	0	0
MIR329-1	574408	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:101493161A>T	ENST00000385028.1	+	0	40					NR_029967.1																						TGTTTCTTTAATGAGGACGAA	0.468000													4	179					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25656896	25656896	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:25656896G>C	ENST00000376436.1	-	4	1567	c.1028C>G	c.(1027-1029)tCa>tGa	p.S343*	ZNF337_ENST00000538750.1_Nonsense_Mutation_p.S311*|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Nonsense_Mutation_p.S343*					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCTCTCCTGAGTGTATTCT	0.498000													35	53					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767807	77767807	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:77767807C>A	ENST00000521891.2	+	10	9098	c.8650C>A	c.(8650-8652)Caa>Aaa	p.Q2884K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2839K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2839K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2858K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2839						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)			CGACCACGACCAAAGCTTTTA	0.522000										HNSCC(33;0.089)			17	37					1.90627e-21	2.03178e-21	1	1	0
ZNF83	55769	broad.mit.edu	37	19	53116283	53116283	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:53116283G>C	ENST00000597597.1	-	2	3788	c.1535C>G	c.(1534-1536)tCt>tGt	p.S512C	ZNF83_ENST00000536937.1_Missense_Mutation_p.S512C|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000545872.1_Missense_Mutation_p.S512C|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.S512C|ZNF83_ENST00000301096.3_Missense_Mutation_p.S512C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.S512C|ZNF83_ENST00000391789.4_Missense_Mutation_p.S484C			P51522	ZNF83_HUMAN	zinc finger protein 83	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ACATGTGTTAGATTTCTTTCC	0.348000													44	75					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29996729	29996729	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:29996729G>A	ENST00000308893.4	+	14	2661	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	TAOK2_ENST00000279394.3_Missense_Mutation_p.E540K|TAOK2_ENST00000543033.1_Missense_Mutation_p.E540K|TAOK2_ENST00000416441.2_Missense_Mutation_p.E367K	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	540					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCAGAGGCAGAAAAGCTGGC	0.672000													5	6					0	0	1	0	0
WDR48	57599	broad.mit.edu	37	3	39093559	39093559	+	Missense_Mutation	SNP	G	G	T	rs147741658		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:39093559G>T	ENST00000302313.5	+	1	71	c.43G>T	c.(43-45)Gtg>Ttg	p.V15L	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.V15L	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	15					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCGGAGGAAAGTGCAGGTATG	0.662000													27	60					6.50621e-10	6.66051e-10	1	1	0
DFNA5	1687	broad.mit.edu	37	7	24745981	24745981	+	Silent	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:24745981G>T	ENST00000545231.1	-	10	1663	c.513C>A	c.(511-513)gtC>gtA	p.V171V	DFNA5_ENST00000409775.3_Silent_p.V335V|DFNA5_ENST00000419307.1_Silent_p.V171V|DFNA5_ENST00000342947.3_Silent_p.V335V|DFNA5_ENST00000409970.1_Silent_p.V171V			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	335					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AGAGGCCGCTGACCAGGTCAT	0.647000													21	14					6.32553e-13	6.57957e-13	1	1	0
TTN	7273	broad.mit.edu	37	2	179411950	179411950	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:179411950G>A	ENST00000589042.1	-	340	94526	c.94302C>T	c.(94300-94302)caC>caT	p.H31434H	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.H22494H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.H22369H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.H22561H|TTN_ENST00000591111.1_Silent_p.H29793H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.H28866H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29793	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCACCATCGTGGTAGGGTT	0.443000													8	225					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61039180	61039180	+	Silent	SNP	C	C	T	rs141642839		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:61039180C>T	ENST00000335613.5	-	14	2138	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	VWCE_ENST00000535710.1_Silent_p.S49S	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	584	VWFC 4.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGTCACCAGGCGACCAGATCT	0.557000													6	40					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15526533	15526533	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:15526533G>C	ENST00000357607.2	+	2	245	c.57G>C	c.(55-57)aaG>aaC	p.K19N	BMX_ENST00000342014.6_Missense_Mutation_p.K19N|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Missense_Mutation_p.K19N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	19	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGCAAAAGAAGAAAATGTCAC	0.294000													47	8					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279201	47279201	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:47279201C>G	ENST00000271153.4	+	5	579	c.543C>G	c.(541-543)ttC>ttG	p.F181L	CYP4B1_ENST00000452782.2_Missense_Mutation_p.F18L|CYP4B1_ENST00000371919.4_Missense_Mutation_p.F166L|CYP4B1_ENST00000371923.4_Missense_Mutation_p.F181L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	181					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTGACATCTTCTGCGATGTGG	0.572000													17	80					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45823019	45823019	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:45823019G>C	ENST00000320560.8	+	20	2860	c.2658G>C	c.(2656-2658)atG>atC	p.M886I	ANO6_ENST00000425752.2_Intron|ANO6_ENST00000441606.2_Missense_Mutation_p.M868I|ANO6_ENST00000423947.3_Missense_Mutation_p.M907I|ANO6_ENST00000435642.1_Intron	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	886					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCAAAGATATGACGAAAAATA	0.388000													13	36					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404068	124404068	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:124404068G>A	ENST00000303921.2	-	1	1613	c.963C>T	c.(961-963)caC>caT	p.H321H		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	321						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTCAGCTCGTGGAAGATGA	0.522000													6	192					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45479022	45479022	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr21:45479022C>T	ENST00000291574.4	+	6	892	c.717C>T	c.(715-717)ttC>ttT	p.F239F	TRAPPC10_ENST00000380221.3_Silent_p.F239F	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	239					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGCAGCAGTTCGAGGACGCCC	0.473000													22	51					0	0	1	0	0
MKRN1	23608	broad.mit.edu	37	7	140159649	140159649	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:140159649G>C	ENST00000255977.2	-	3	626	c.402C>G	c.(400-402)ctC>ctG	p.L134L	MKRN1_ENST00000474576.1_Silent_p.L70L|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Silent_p.L134L	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	134							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)					CTATCGATGAGAGACTTGAGG	0.413000													32	87					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72196849	72196849	+	Silent	SNP	G	G	A	rs141905323		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:72196849G>A	ENST00000555818.1	+	18	5103	c.4755G>A	c.(4753-4755)tcG>tcA	p.S1585S	SIPA1L1_ENST00000537413.1_Silent_p.S1039S|SIPA1L1_ENST00000381232.3_Silent_p.S1564S|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Silent_p.S1564S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1585					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAACACTGTCGGACGAGAGCA	0.557000													6	88					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													7	45					0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170597419	170597419	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:170597419C>T	ENST00000366756.3	-	4	911	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	193	DSL.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GTCCCGGGGACGGCAGAAAAC	0.622000													24	49					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255920	70255920	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:70255920C>T	ENST00000342771.4	+	19	4039	c.3718C>T	c.(3718-3720)Ctg>Ttg	p.L1240L	AUTS2_ENST00000406775.2_Silent_p.L1216L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1240										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACGACTCCTCTGTCCGCAGA	0.622000													13	15					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61706062	61706062	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:61706062C>G	ENST00000401558.2	-	25	3836	c.3109G>C	c.(3109-3111)Gag>Cag	p.E1037Q	RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603199.1_RNA|RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000406957.1_Missense_Mutation_p.E1037Q|XPO1_ENST00000404992.2_Missense_Mutation_p.E1037Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	1037					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ATTTCTCTCTCTTCCAAAAAC	0.388000			Mis		CLL								52	44					0	0	1	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15025700	15025700	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrY:15025700C>A	ENST00000336079.3	+	7	714	c.608C>A	c.(607-609)cCa>cAa	p.P203Q	DDX3Y_ENST00000360160.4_Missense_Mutation_p.P203Q|DDX3Y_ENST00000463199.1_3'UTR	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	203						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CGTCCTACTCCAGTGCAAAAA	0.368000													3	56					0.150653	0.150653	1	1	0
SMAD1	4086	broad.mit.edu	37	4	146463782	146463782	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:146463782A>G	ENST00000515385.1	+	4	1249	c.707A>G	c.(706-708)cAg>cGg	p.Q236R	SMAD1_ENST00000302085.4_Missense_Mutation_p.Q236R|SMAD1_ENST00000394092.2_Missense_Mutation_p.Q236R			Q15797	SMAD1_HUMAN	SMAD family member 1	236					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCCATGACCCAGGATGGCTCT	0.468000													19	384					0	0	1	0	0
GNS	2799	broad.mit.edu	37	12	65110565	65110565	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:65110565G>A	ENST00000258145.3	-	14	1785	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	GNS_ENST00000543646.1_Missense_Mutation_p.R571C|GNS_ENST00000418919.2_Missense_Mutation_p.R483C|GNS_ENST00000542058.1_Missense_Mutation_p.R519C	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	539						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACACTGCCGCGATTGCTGAAC	0.473000													15	53					0	0	1	0	0
CCDC125	202243	broad.mit.edu	37	5	68616096	68616096	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:68616096C>G	ENST00000396496.2	-	2	379	c.272G>C	c.(271-273)aGa>aCa	p.R91T	CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000383374.2_Missense_Mutation_p.R91T|CCDC125_ENST00000396499.1_Missense_Mutation_p.R91T|CCDC125_ENST00000511257.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	91						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ATTGGAAATTCTGGACACTTG	0.418000													71	139					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242433449	242433449	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:242433449G>A	ENST00000264042.3	+	27	3244	c.3074G>A	c.(3073-3075)aGc>aAc	p.S1025N	STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1025	PH 2.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CAGGGGGCCAGCAGCTCAGCC	0.632000													30	65					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68150646	68150646	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:68150646C>T	ENST00000262215.3	-	22	3610	c.3221G>A	c.(3220-3222)cGa>cAa	p.R1074Q	ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R528Q	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1074					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCTCTGCCTCGCACTGTTCC	0.403000													41	84					0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159192335	159192335	+	Missense_Mutation	SNP	G	G	C	rs139648265	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:159192335G>C	ENST00000367075.3	-	9	1068	c.900C>G	c.(898-900)atC>atG	p.I300M	EZR_ENST00000337147.7_Missense_Mutation_p.I300M|EZR_ENST00000392177.4_Missense_Mutation_p.I268M	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	300	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCTGCACCTCGATGGTGTCAG	0.597000			T	ROS1	NSCLC								17	46					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178359437	178359437	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:178359437A>T	ENST00000361362.2	+	5	1653	c.1123A>T	c.(1123-1125)Att>Ttt	p.I375F	ZFP2_ENST00000523286.1_Missense_Mutation_p.I375F|ZFP2_ENST00000503510.2_Missense_Mutation_p.I375F|ZFP2_ENST00000520301.1_Missense_Mutation_p.I375F	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GCATCAGGTCATTCACACTGG	0.423000													9	82					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59820639	59820639	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:59820639G>C	ENST00000395125.1	+	19	2366	c.2343G>C	c.(2341-2343)aaG>aaC	p.K781N	DAAM1_ENST00000360909.3_Missense_Mutation_p.K771N|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.K781N	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	781	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACTTCAAAAAGAAGTTTGCAG	0.348000													11	47					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17939589	17939589	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:17939589G>A	ENST00000361221.3	+	8	805	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	ARHGEF10L_ENST00000375415.1_Intron|ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.A216T|ARHGEF10L_ENST00000375420.3_Intron	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	216					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GGAGAGATACGCCAGGACTAA	0.547000													28	126					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616246	92616246	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:92616246G>A	ENST00000298047.6	+	23	12641	c.12624G>A	c.(12622-12624)ccG>ccA	p.P4208P	FAT3_ENST00000533797.1_Silent_p.P543P|FAT3_ENST00000525166.1_Silent_p.P4058P|FAT3_ENST00000409404.2_Silent_p.P4208P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4208					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGCATCCCGTTCCGGAACC	0.657000										TCGA Ovarian(4;0.039)			14	96					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20508104	20508104	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:20508104C>G	ENST00000361078.2	-	5	782	c.760G>C	c.(760-762)Ggc>Cgc	p.G254R	PUM2_ENST00000536417.1_Missense_Mutation_p.G198R|PUM2_ENST00000403432.1_Missense_Mutation_p.G254R|PUM2_ENST00000338086.5_Missense_Mutation_p.G254R|PUM2_ENST00000319801.5_Missense_Mutation_p.G254R			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	254	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAAAAAGGCCTACAGTAGCT	0.433000													111	22					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66360121	66360121	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:66360121C>T	ENST00000333861.3	-	1	433	c.366G>A	c.(364-366)ctG>ctA	p.L122L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	122										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTCGCTGCTCAGCAGCACGT	0.627000											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	57					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789947	133789947	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:133789947G>A	ENST00000321016.8	-	18	3903	c.3673C>T	c.(3673-3675)Cgc>Tgc	p.R1225C	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1225C			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1225	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGCCCGGGCGAGGCCGGGCA	0.677000													27	18					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101570311	101570311	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:101570311A>G	ENST00000375011.3	+	1	331	c.331A>G	c.(331-333)Atc>Gtc	p.I111V		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	111						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CAGCGACCGCATCTCACTGCA	0.692000													5	5					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152815032	152815032	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:152815032C>T	ENST00000370186.1	+	9	1700	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	ATP2B3_ENST00000370181.2_Silent_p.S458S|ATP2B3_ENST00000349466.2_Silent_p.S472S|ATP2B3_ENST00000393842.1_Silent_p.S458S|ATP2B3_ENST00000359149.3_Silent_p.S472S|ATP2B3_ENST00000263519.4_Silent_p.S472S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	472					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATCTGCTCCGACAAGACGG	0.607000													95	17					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11031771	11031771	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:11031771C>G	ENST00000327064.4	+	14	1773	c.1583C>G	c.(1582-1584)tCc>tGc	p.S528C	CARM1_ENST00000344150.4_Missense_Mutation_p.S528C	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	528	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCCAGTGGCTCCAGCGTGGGC	0.662000													11	44					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14021928	14021928	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:14021928G>A	ENST00000311895.7	+	4	637	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	ERCC4_ENST00000575156.1_Missense_Mutation_p.E210K|ERCC4_ENST00000574781.1_3'UTR	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	210					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCACAAACCTGAAGTTGTAGA	0.343000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				29	77					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116941293	116941293	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:116941293G>A	ENST00000537345.1	+	16	2538	c.2175G>A	c.(2173-2175)ttG>ttA	p.L725L	ATP1A1_ENST00000369496.4_Silent_p.L694L|ATP1A1_ENST00000295598.5_Silent_p.L725L	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	725					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CTCCAGCTTTGAAGAAAGCAG	0.483000													31	160					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113440781	113440781	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:113440781C>A	ENST00000392583.2	+	6	1260	c.1053C>A	c.(1051-1053)ttC>ttA	p.F351L	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.F351L	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	351	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGATAAGTTCATCAAGGAGT	0.507000													169	189					2.37301e-105	2.62654e-105	1	1	0
CSNK1G3	1456	broad.mit.edu	37	5	122881389	122881389	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:122881389C>G	ENST00000395412.1	+	2	751	c.32C>G	c.(31-33)tCa>tGa	p.S11*	CSNK1G3_ENST00000360683.2_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000345990.4_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000361991.2_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000510842.2_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000395411.1_Nonsense_Mutation_p.S11*|CSNK1G3_ENST00000508708.1_3'UTR			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	11					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAGGACAAATCAGATGATAGA	0.408000													11	33					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49225142	49225142	+	Silent	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:49225142A>G	ENST00000222145.4	-	11	2865	c.2661T>C	c.(2659-2661)ccT>ccC	p.P887P		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	887	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CTGCAGGGGGAGGGTCCCACG	0.642000													4	201					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46773969	46773969	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:46773969C>T	ENST00000394809.4	-	2	683	c.568G>A	c.(568-570)Gag>Aag	p.E190K	MYLK3_ENST00000536476.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	190					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCCACTCACCTTCCCCAGGC	0.502000													12	155					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:137328351C>A	ENST00000540193.1	+	9	1912	c.989C>A	c.(988-990)tCc>tAc	p.S330Y	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.S427Y			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607000													72	36					3.47803e-31	3.75337e-31	1	1	0
OR4X2	119764	broad.mit.edu	37	11	48267009	48267009	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:48267009C>T	ENST00000302329.3	+	1	402	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ATGTGGCCATCTGCAAGCCCC	0.512000													44	47					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128389955	128389955	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:128389955G>A	ENST00000389524.4	+	38	5362	c.5309G>A	c.(5308-5310)cGc>cAc	p.R1770H	MYO7B_ENST00000409816.2_Missense_Mutation_p.R1769H|MYO7B_ENST00000409090.1_Missense_Mutation_p.R622H|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1769H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1769	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GACTGCAGCCGCCGAATCCAG	0.682000													31	79					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20506951	20506951	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:20506951G>C	ENST00000202677.7	-	28	3645	c.3638C>G	c.(3637-3639)tCc>tGc	p.S1213C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTCCCAGTAGGAAACCAGCAA	0.408000													9	31					0	0	1	0	0
SCARB2	950	broad.mit.edu	37	4	77102129	77102129	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:77102129C>G	ENST00000264896.2	-	3	750	c.401G>C	c.(400-402)aGa>aCa	p.R134T	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	134					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			ATTTAATGTTCTAATTAAGTC	0.318000													38	18					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119384	38119384	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:38119384A>C	ENST00000406386.3	+	7	1076	c.821A>C	c.(820-822)gAa>gCa	p.E274A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	274					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)					TCTACACGTGAAATCCCCAGA	0.592000													19	75					0	0	1	0	0
UTY	7404	broad.mit.edu	37	Y	15435627	15435627	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrY:15435627G>C	ENST00000331397.4	-	19	3800	c.2793C>G	c.(2791-2793)ttC>ttG	p.F931L	UTY_ENST00000362096.4_Missense_Mutation_p.F931L|UTY_ENST00000537580.1_Missense_Mutation_p.F852L|UTY_ENST00000538878.1_Missense_Mutation_p.F898L|UTY_ENST00000329134.5_Missense_Mutation_p.F931L|UTY_ENST00000545955.1_Missense_Mutation_p.F1006L|UTY_ENST00000382896.4_Missense_Mutation_p.F976L|UTY_ENST00000540140.1_Missense_Mutation_p.F928L	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	931					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						TTTTGGTAGAGAAAAGTCCAA	0.318000													18	3					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100706396	100706396	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:100706396C>A	ENST00000370132.4	-	2	109	c.96G>T	c.(94-96)ttG>ttT	p.L32F	DBT_ENST00000370131.3_Missense_Mutation_p.L32F	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2						branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AATTTGGCTTCAAAACATGAA	0.323000													45	56					5.82388e-19	6.15668e-19	1	1	0
BTN2A2	10385	broad.mit.edu	37	6	26393028	26393028	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:26393028T>C	ENST00000356709.4	+	8	1516	c.1405T>C	c.(1405-1407)Tac>Cac	p.Y469H	BTN2A2_ENST00000352867.2_Missense_Mutation_p.Y353H|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.Y469H|BTN2A2_ENST00000482536.1_Missense_Mutation_p.Y259H|BTN2A2_ENST00000432533.2_3'UTR	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	469	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						ATCGCACATCTACACATGTCC	0.542000													10	80					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					8	138					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111413469	111413469	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:111413469A>C	ENST00000535254.1	-	15	1730	c.1663T>G	c.(1663-1665)Ttt>Gtt	p.F555V	BUB1_ENST00000302759.6_Missense_Mutation_p.F575V|BUB1_ENST00000409311.1_Missense_Mutation_p.F575V	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	575					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TCATCCAAAAACTCTTCAGCA	0.438000													7	228					0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	135661	135661	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:135661G>A	ENST00000219431.4	+	5	1013	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	MPG_ENST00000397817.1_Missense_Mutation_p.R244Q	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	261					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCAGCAGCCCGGGTGGGCGTC	0.657000								Base excision repair (BER), DNA glycosylases					4	6					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1487250	1487250	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:1487250C>G	ENST00000297508.7	-	4	661	c.486G>C	c.(484-486)caG>caC	p.Q162H	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	162						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CATTCCTCCTCTGGACCACAG	0.672000													6	15					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52351969	52351969	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:52351969C>T	ENST00000296585.5	+	9	1229	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	362	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AACAAATTTTCAGCATTGAAG	0.299000													19	54					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004826	187004826	+	Silent	SNP	C	C	T	rs149490656		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:187004826C>T	ENST00000296795.3	+	4	2090	c.1986C>T	c.(1984-1986)aaC>aaT	p.N662N	TLR3_ENST00000504367.1_Silent_p.N385N	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3		LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATTGGATTAACGAGACCCATA	0.443000													89	65					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520128	129520128	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:129520128G>A	ENST00000305031.4	+	3	1651	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	431						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GTGCCCTGATGAGCAAGCTCA	0.502000													9	86					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120989224	120989224	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:120989224G>C	ENST00000392793.1	+	7	1271	c.1000G>C	c.(1000-1002)Gac>Cac	p.D334H	TECTA_ENST00000264037.2_Missense_Mutation_p.D334H			O75443	TECTA_HUMAN	tectorin alpha	334	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCACACTTTTGACGGCTTCCT	0.557000													15	93					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105436562	105436562	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:105436562G>A	ENST00000351513.2	-	7	1280	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	383					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAATTTTGGCTGCATTTGT	0.348000													9	80					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7773125	7773125	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:7773125C>T	ENST00000338316.4	+	18	2384	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	ADCY2_ENST00000537121.1_Silent_p.I585I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	765					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGATGTTGATCATGATGGTGG	0.527000													47	199					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582433	179582433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:179582433G>A	ENST00000589042.1	-	87	25392	c.25168C>T	c.(25168-25170)Caa>Taa	p.Q8390*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q8073*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q7146*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8073	Ig-like 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGACACTTGAAGAGGTTCT	0.398000													14	17					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225378258	225378258	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:225378258A>G	ENST00000264414.4	-	5	975	c.637T>C	c.(637-639)Tct>Cct	p.S213P	CUL3_ENST00000344951.4_Missense_Mutation_p.S147P|CUL3_ENST00000409777.1_Missense_Mutation_p.S189P|CUL3_ENST00000409096.1_Missense_Mutation_p.S189P	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	213					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AATTCTGCAGACATTTCCAAA	0.303000													15	23					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46772020	46772020	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:46772020C>T	ENST00000394809.4	-	3	719	c.604G>A	c.(604-606)Gag>Aag	p.E202K	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	202					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCAGCCTCTCCGCTGTCCCC	0.637000													6	13					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232685	117232685	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:117232685G>A	ENST00000003084.6	+	14	2596	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	CFTR_ENST00000454343.1_Missense_Mutation_p.E761K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	822			E -> K (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GGAAATAAGTGAAGAAATTAA	0.403000									Cystic Fibrosis				21	63					0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	893185	893185	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:893185G>T	ENST00000166345.3	+	1	428	c.72G>T	c.(70-72)gaG>gaT	p.E24D		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	24					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TCCACGTGGAGGTGCATCAGC	0.721000													9	13					0.0135373	0.0136426	1	1	0
VAT1	10493	broad.mit.edu	37	17	41168155	41168155	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:41168155C>T	ENST00000355653.3	-	6	1200	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	VAT1_ENST00000420567.3_Missense_Mutation_p.D235N|VAT1_ENST00000587173.1_Missense_Mutation_p.D301N	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	369						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTCATGGCATCAGCCACCTGG	0.567000													9	424					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47768968	47768968	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr21:47768968G>C	ENST00000359568.5	+	7	1182	c.1075G>C	c.(1075-1077)Gaa>Caa	p.E359Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	359	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTTATGTTTAGAAAATCTACG	0.323000													41	112					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30323833	30323833	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:30323833C>G	ENST00000322652.5	+	15	2040	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	SUZ12_ENST00000580398.1_Missense_Mutation_p.S581C	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	604	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GAAGAGTTTTCTGATGTTAAT	0.294000			T	JAZF1	endometrial stromal tumours								38	32					0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145894805	145894805	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:145894805G>C	ENST00000311104.2	-	1	948	c.872C>G	c.(871-873)tCt>tGt	p.S291C		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	291						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGACTTGAGACAGGGCTAT	0.502000													17	38					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:3380510T>C	ENST00000354599.6	-	4	1616	c.1512A>G	c.(1510-1512)aaA>aaG	p.K504K	ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000005082.9_Silent_p.K553K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393000													4	89					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68171050	68171050	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:68171050G>C	ENST00000294304.7	+	8	1790	c.1684G>C	c.(1684-1686)Gac>Cac	p.D562H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	562	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTACTGGACTGACTGGCAGCG	0.597000													35	61					0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48209004	48209004	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:48209004C>A	ENST00000376893.3	-	7	578	c.485G>T	c.(484-486)tGc>tTc	p.C162F	SSX3_ENST00000298396.2_Intron|SSX3_ENST00000376895.1_Intron			Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						accgaacctgcagtatctctg	0.413000													3	56					0.115264	0.115711	1	1	0
VPS4B	9525	broad.mit.edu	37	18	61058250	61058250	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:61058250C>G	ENST00000238497.5	-	11	1496	c.1293G>C	c.(1291-1293)ttG>ttC	p.L431F		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	431					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TCTTTAATTTCAACAAGTCAT	0.353000													24	39					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1231042	1231042	+	Silent	SNP	C	C	A	rs75463186		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:1231042C>A	ENST00000590083.1	-	9	1504	c.1212G>T	c.(1210-1212)tcG>tcT	p.S404S	C19orf26_ENST00000215376.6_Silent_p.S398S|C19orf26_ENST00000382477.2_Intron			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	434						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGGGGGGGCGAAGGGGGGC	0.716000										HNSCC(14;0.022)			6	28					2.0095e-06	2.04102e-06	1	1	0
TRPM5	29850	broad.mit.edu	37	11	2443523	2443523	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:2443523G>A	ENST00000452833.1	-	2	154	c.146C>T	c.(145-147)cCg>cTg	p.P49L	TRPM5_ENST00000155858.6_Missense_Mutation_p.P49L|TRPM5_ENST00000533060.1_Missense_Mutation_p.P49L|TRPM5_ENST00000528453.1_Missense_Mutation_p.P49L			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	49						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGCACAGACGGGGCCACTCC	0.662000													33	60					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17961316	17961316	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:17961316G>C	ENST00000381254.2	+	13	1550	c.1336G>C	c.(1336-1338)Gaa>Caa	p.E446Q	GEN1_ENST00000317402.7_Missense_Mutation_p.E446Q|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	446					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATCATTGTTTGAAGCAGCATA	0.303000								Homologous recombination					52	6					0	0	1	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43015885	43015885	+	RNA	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:43015885T>C	ENST00000452075.3	-	0	1709					NR_026777.1																						GTCTGAATTCTTATAGAAGGT	0.433000													13	48					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148072790	148072790	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:148072790C>A	ENST00000370460.2	+	21	4343	c.3864C>A	c.(3862-3864)agC>agA	p.S1288R	AFF2_ENST00000370457.5_Missense_Mutation_p.S1253R|AFF2_ENST00000342251.3_Missense_Mutation_p.S1255R|AFF2_ENST00000286437.5_Missense_Mutation_p.S929R	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1288					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCACAGCAGCATGACCA	0.493000													55	97					1.41595e-48	1.54089e-48	1	1	0
ZNF425	155054	broad.mit.edu	37	7	148802225	148802225	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:148802225G>C	ENST00000378061.2	-	4	870	c.738C>G	c.(736-738)ttC>ttG	p.F246L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	246					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CACTGCACTGGAACCGCTTCT	0.582000													24	57					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346371	29346371	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:29346371A>G	ENST00000558402.1	+	5	883	c.284A>G	c.(283-285)gAg>gGg	p.E95G	APBA2_ENST00000558330.1_Missense_Mutation_p.E95G|APBA2_ENST00000411764.1_Missense_Mutation_p.E95G|APBA2_ENST00000561069.1_Missense_Mutation_p.E95G|APBA2_ENST00000558259.1_Missense_Mutation_p.E95G			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	95	Poly-Glu.				nervous system development|protein transport		protein binding	p.E95G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGGAGGAGGAGGGCATCACC	0.607000													3	170					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32821530	32821530	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr13:32821530C>T	ENST00000380250.3	+	48	7395	c.6899C>T	c.(6898-6900)cCt>cTt	p.P2300L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTTGTTTTACCTTCATACCAG	0.433000													67	88					0	0	1	0	0
TEDDM1	127670	broad.mit.edu	37	1	182369426	182369426	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:182369426G>A	ENST00000367565.1	-	1	325	c.195C>T	c.(193-195)taC>taT	p.Y65Y		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	65						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						ACTCTTTGGGGTACATGAACC	0.498000													3	55					0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241918	60241918	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:60241918C>T	ENST00000269499.5	+	13	3022	c.2604C>T	c.(2602-2604)atC>atT	p.I868I	ZCCHC2_ENST00000586834.1_Silent_p.I547I	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	868					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CGGACCCCATCACAAAATCTG	0.507000													33	117					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840195	142840195	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:142840195C>T	ENST00000309575.3	+	2	1921	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	179					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCTCGTCGTTCTTCGGCGAGC	0.617000													26	29					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468280	50468280	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:50468280C>T	ENST00000331340.3	+	8	1670	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	IKZF1_ENST00000359197.5_Silent_p.F463F|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Silent_p.F463F|IKZF1_ENST00000438033.1_Silent_p.F418F|IKZF1_ENST00000349824.4_Silent_p.F362F|IKZF1_ENST00000343574.5_Silent_p.F418F|IKZF1_ENST00000346667.4_Silent_p.F275F|IKZF1_ENST00000357364.4_Silent_p.F418F	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	505					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGTACGAGTTCTCGTCGCACA	0.607000			"""D,T"""	BCL6	"""ALL, DLBCL"""								24	46					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130449257	130449257	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:130449257G>C	ENST00000356763.3	-	5	2037	c.1480C>G	c.(1480-1482)Ctg>Gtg	p.L494V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	494					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGGAATCTCAGAGCTGTTTCT	0.299000													34	51					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33552094	33552094	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:33552094T>A	ENST00000399362.4	-	37	4647	c.4294A>T	c.(4294-4296)Acc>Tcc	p.T1432S	CLASP2_ENST00000468888.2_Missense_Mutation_p.T1433S|CLASP2_ENST00000307312.7_Missense_Mutation_p.T914S|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000480013.1_Missense_Mutation_p.T1212S|CLASP2_ENST00000359576.5_Missense_Mutation_p.T1424S|CLASP2_ENST00000461133.3_Missense_Mutation_p.T1192S	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1434										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGGTTTAGGGTTTCCTTGGAC	0.398000													8	72					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224981	26224981	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:26224981G>A	ENST00000056233.3	+	4	1922	c.1663G>A	c.(1663-1665)Gtc>Atc	p.V555I		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	555					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGATGAAATTGTCGGCATGCC	0.398000													11	81					0	0	1	0	0
NAP1L4	4676	broad.mit.edu	37	11	2975840	2975840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:2975840C>A	ENST00000380542.4	-	12	1092	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	NAP1L4_ENST00000526115.1_Nonsense_Mutation_p.E318*	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	318					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TGTCCAATTTCAAAATCAGAG	0.448000													32	37					7.11191e-15	7.45742e-15	1	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38655151	38655151	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:38655151C>G	ENST00000222345.6	+	15	4322	c.3813C>G	c.(3811-3813)agC>agG	p.S1271R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1271					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATTCCAGCAGCAACACCCTCT	0.622000													72	139					0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46888119	46888119	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:46888119T>C	ENST00000012443.4	+	7	960	c.857T>C	c.(856-858)cTt>cCt	p.L286P	PPP5C_ENST00000391919.1_Missense_Mutation_p.L158P	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	286	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		ATCCTCACCCTTTTCGGCTTC	0.527000													3	139					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221324	161221324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:161221324C>A	ENST00000327928.4	+	4	1028	c.1028C>A	c.(1027-1029)tCg>tAg	p.S343*		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	343	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GTGCCCCGGTCGGCTTTCAGC	0.517000													18	31					5.35356e-11	5.54629e-11	1	1	0
LZTFL1	54585	broad.mit.edu	37	3	45879482	45879482	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:45879482C>T	ENST00000296135.6	-	2	239	c.65G>A	c.(64-66)cGt>cAt	p.R22H	LZTFL1_ENST00000536047.1_Missense_Mutation_p.R5H|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	22										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TCTCTTTGAACGAGCAAAACG	0.393000													6	65					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96500768	96500768	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:96500768G>A	ENST00000283109.3	-	9	1549	c.1481C>T	c.(1480-1482)tCa>tTa	p.S494L	CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	494	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.S494*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		AGGAATTGTTGAACAGCTTAC	0.358000													27	58					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724762	38724762	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:38724762C>T	ENST00000342213.2	-	1	812	c.466G>A	c.(466-468)Ggc>Agc	p.G156S		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	156	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCCTTCCAGCCTGCGGGCTCG	0.677000													30	32					0	0	1	0	0
UTY	7404	broad.mit.edu	37	Y	15466934	15466934	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrY:15466934C>T	ENST00000331397.4	-	15	2726	c.1719G>A	c.(1717-1719)ctG>ctA	p.L573L	UTY_ENST00000537580.1_Intron|UTY_ENST00000362096.4_Silent_p.L573L|UTY_ENST00000538878.1_Silent_p.L540L|UTY_ENST00000329134.5_Silent_p.L573L|UTY_ENST00000545955.1_Silent_p.L648L|UTY_ENST00000382896.4_Silent_p.L618L|UTY_ENST00000540140.1_Silent_p.L570L	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	573					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						TGCTGCTGTTCAGGTCTGTAT	0.408000													13	8					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35615271	35615271	+	Silent	SNP	T	T	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:35615271T>G	ENST00000353139.5	-	13	2006	c.1525A>C	c.(1525-1527)Aga>Cga	p.R509R	ACACA_ENST00000360679.3_Silent_p.R414R|ACACA_ENST00000335166.5_Silent_p.R394R|ACACA_ENST00000394406.2_Silent_p.R472R	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	472	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCTTGATTCTATATAGAGGA	0.403000													23	110					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271633	22271633	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:22271633C>G	ENST00000594947.1	+	4	1225	c.1081C>G	c.(1081-1083)Caa>Gaa	p.Q361E		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACACCTTACTCAACATAAGAT	0.398000													13	37					0	0	1	0	0
SPATA33	124045	broad.mit.edu	37	16	89735693	89735693	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:89735693G>C	ENST00000301031.4	+	3	208		c.e3-1		SPATA33_ENST00000579310.1_Splice_Site	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1			spermatogenesis associated 33																		TTTTCCTCTAGAGAAACCTGA	0.458000													8	32					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31927296	31927296	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:31927296T>C	ENST00000300870.10	+	4	1935	c.1726T>C	c.(1726-1728)Tac>Cac	p.Y576H		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	576					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AGAAAAACCATACAAATGTAA	0.383000													14	42					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94697113	94697113	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:94697113G>C	ENST00000260526.6	-	2	237	c.55C>G	c.(55-57)Caa>Gaa	p.Q19E	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.Q19E	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	19					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTAGAGAGTTGACCTGATGCC	0.388000													20	154					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5476116	5476116	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:5476116G>C	ENST00000296564.7	+	17	6666	c.6444G>C	c.(6442-6444)tgG>tgC	p.W2148C		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2148										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGGATAAATGGATAAAATACA	0.313000													3	38					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482654	20482654	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:20482654G>T	ENST00000305045.2	-	1	698	c.699C>A	c.(697-699)agC>agA	p.S233R		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTTGGATGTGCTACCGGCAG	0.502000													8	15					0.00307968	0.00311577	1	1	0
BEST2	54831	broad.mit.edu	37	19	12864153	12864153	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:12864153G>C	ENST00000549706.1	+	3	556	c.232G>C	c.(232-234)Gtc>Ctc	p.V78L	BEST2_ENST00000042931.1_Missense_Mutation_p.V78L|BEST2_ENST00000553030.1_Missense_Mutation_p.V78L			Q8NFU1	BEST2_HUMAN	bestrophin 2	78					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CCTCATCCCTGTCTCCTTCGT	0.552000													20	124					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68150723	68150723	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:68150723C>T	ENST00000262215.3	-	22	3533	c.3144G>A	c.(3142-3144)ctG>ctA	p.L1048L	ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Silent_p.L502L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1048					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGATGCACTTCAGAATCTTAA	0.368000													20	32					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133362908	133362908	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:133362908C>T	ENST00000260810.5	-	11	1935	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	602	BRCT 4.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GCTTCCACTTCACACCCCAGC	0.423000								Other conserved DNA damage response genes					54	102					0	0	1	0	0
RGPD2	729857	broad.mit.edu	37	2	88125241	88125241	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:88125241C>T	ENST00000398146.3	-	1	230	c.8G>A	c.(7-9)cGc>cAc	p.R3H	RGPD2_ENST00000420840.2_Intron|RGPD2_ENST00000327544.6_5'UTR			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 2	0					intracellular transport		binding			breast(1)|pancreas(1)	2						GGCTTTGCTGCGCCTCATCGC	0.657000													6	18					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120782154	120782154	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:120782154C>A	ENST00000310396.5	+	16	2481	c.2014C>A	c.(2014-2016)Ctg>Atg	p.L672M	CPED1_ENST00000450913.2_Missense_Mutation_p.L672M|CPED1_ENST00000423795.1_Missense_Mutation_p.L452M	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CCGCCCAAGTCTGCCCTTGTT	0.443000													58	135					4.83814e-26	5.19949e-26	1	1	0
DICER1	23405	broad.mit.edu	37	14	95562743	95562743	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:95562743G>C	ENST00000526495.1	-	25	4805	c.4514C>G	c.(4513-4515)tCt>tGt	p.S1505C	DICER1_ENST00000541352.1_Missense_Mutation_p.S1505C|DICER1_ENST00000527414.1_Missense_Mutation_p.S1505C|DICER1_ENST00000556045.1_Missense_Mutation_p.S403C|DICER1_ENST00000343455.3_Missense_Mutation_p.S1505C|DICER1_ENST00000393063.1_Missense_Mutation_p.S1505C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1505					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCATCCCAAGAGCTGTAGTC	0.408000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				24	55					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75862289	75862289	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:75862289G>A	ENST00000370855.5	-	3	144	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	SLC44A5_ENST00000370859.3_Missense_Mutation_p.P11S|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	11						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCCTCAGAGGGAGTATCTGCT	0.363000													63	51					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101251630	101251630	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:101251630G>C	ENST00000388798.2	+	17	2469	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q	SPAG1_ENST00000251809.3_Missense_Mutation_p.E760Q	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	760					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TGAGATTCAAGAGGTATTTGT	0.353000													32	53					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64981662	64981662	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:64981662A>C	ENST00000268603.4	-	13	2850	c.2235T>G	c.(2233-2235)taT>taG	p.Y745*	CDH11_ENST00000566827.1_Nonsense_Mutation_p.Y619*|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	745					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCTGCCTTCATAACCGTAGA	0.527000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			16	57					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6707456	6707456	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:6707456C>T	ENST00000309577.6	-	11	1781	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	CHD4_ENST00000544040.1_Missense_Mutation_p.E533K|CHD4_ENST00000544484.1_Missense_Mutation_p.E537K|CHD4_ENST00000357008.2_Missense_Mutation_p.E540K			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	540	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AACTGCCGCTCTGGCCGCCCC	0.572000													123	115					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1487240	1487240	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:1487240C>T	ENST00000297508.7	-	4	671	c.496G>A	c.(496-498)Gag>Aag	p.E166K	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	166						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTGCACCCTCATTCCTCCTC	0.677000													6	16					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15760899	15760899	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:15760899C>G	ENST00000378076.3	-	2	563		c.e2-1			NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8						cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GACACTCGCTCTGCAAAAGAG	0.607000													39	55					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284000													3	72					0	0	1	0	0
C14orf142	84520	broad.mit.edu	37	14	93670128	93670128	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:93670128C>G	ENST00000306954.4	-	2	265		c.e2-1		RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_032490.4	NP_115879.2	Q9BXV9	CN142_HUMAN	chromosome 14 open reading frame 142											endometrium(1)|skin(1)	2		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		TCATCATCACCTTTTAAAATA	0.323000													27	31					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510442	169510442	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:169510442G>C	ENST00000367796.3	-	13	4102	c.3901C>G	c.(3901-3903)Cca>Gca	p.P1301A	F5_ENST00000367797.3_Missense_Mutation_p.P1296A			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1296	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGAGTTCTGGAGAGAGGTTT	0.522000													151	173					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23596404	23596404	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:23596404C>T	ENST00000316902.7	-	11	2315	c.1590G>A	c.(1588-1590)gcG>gcA	p.A530A	SLC7A8_ENST00000453702.1_Silent_p.A327A|SLC7A8_ENST00000422941.2_Silent_p.A306A|SLC7A8_ENST00000529705.2_Silent_p.A425A|SLC7A8_ENST00000469263.1_3'UTR	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	530					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GGGGCTGCCCCGCCACGTCCT	0.617000													27	74					0	0	1	0	0
PKIA	5569	broad.mit.edu	37	8	79513978	79513978	+	Splice_Site	SNP	A	A	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:79513978A>T	ENST00000396418.2	+	4	639	c.153A>T	c.(151-153)gaA>gaT	p.E51D	PKIA_ENST00000518467.1_Splice_Site_p.E51D|PKIA_ENST00000352966.5_Splice_Site_p.E51D	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	51							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						CTTTTGCAGAAGGTGAAGAAG	0.383000													21	25					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62739220	62739220	+	Missense_Mutation	SNP	C	C	T	rs150415917	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:62739220C>T	ENST00000383710.4	-	3	1133	c.784G>A	c.(784-786)Gca>Aca	p.A262T	CADPS_ENST00000490353.2_Missense_Mutation_p.A262T|CADPS_ENST00000357948.3_Missense_Mutation_p.A262T|CADPS_ENST00000283269.9_Missense_Mutation_p.A262T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	262					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCGGAGGCTGCGCTGGCTGTC	0.537000													60	63					0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132685671	132685671	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:132685671C>G	ENST00000328957.8	-	8	1398	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	GALNT9_ENST00000397325.2_Missense_Mutation_p.E101Q|GALNT9_ENST00000541995.1_Missense_Mutation_p.E101Q|GALNT9_ENST00000535228.1_Missense_Mutation_p.E218Q	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	467	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGTGCTACCTCTCCGTACGTG	0.607000													6	21					0	0	1	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140537073	140537073	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:140537073G>A	ENST00000539533.1	+	1	1497	c.1497G>A	c.(1495-1497)ctG>ctA	p.L499L																								ACCCGCACCTGCCCCTCGCCT	0.657000													61	133					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166935664	166935664	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:166935664C>G	ENST00000061240.2	+	8	1641	c.994C>G	c.(994-996)Cta>Gta	p.L332V	TLL1_ENST00000507499.1_Missense_Mutation_p.L332V|TLL1_ENST00000513213.1_Missense_Mutation_p.L332V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	332	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GCGAACCCGTCTAAGCAAAGG	0.463000													4	184					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8379127	8379127	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:8379127C>G	ENST00000360416.3	-	43	6157	c.6019G>C	c.(6019-6021)Gag>Cag	p.E2007Q	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000396239.1_Missense_Mutation_p.E1997Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1976Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1992Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1976					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CAACTTTACTCTGACTGGGGT	0.562000													151	67					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76873903	76873903	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:76873903C>G	ENST00000409709.3	+	14	1831	c.1559C>G	c.(1558-1560)aCa>aGa	p.T520R	MYO7A_ENST00000409893.1_Missense_Mutation_p.T520R|MYO7A_ENST00000409619.2_Missense_Mutation_p.T509R|MYO7A_ENST00000458637.2_Missense_Mutation_p.T520R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	520	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCCAGGGCACAGACACCACC	0.587000													70	73					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30804901	30804901	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:30804901C>G	ENST00000383096.3	-	17	1839		c.e17-1		CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Splice_Site|CCDC178_ENST00000579947.1_Splice_Site|CCDC178_ENST00000406524.2_Splice_Site|CCDC178_ENST00000300227.8_Splice_Site|CCDC178_ENST00000403303.1_Splice_Site|CCDC178_ENST00000583930.1_Splice_Site					coiled-coil domain containing 178																		ATAGTTTTTTCTGCCAGCAAA	0.328000													13	50					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31836786	31836786	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:31836786A>G	ENST00000397525.1	-	18	2843	c.2620T>C	c.(2620-2622)Ttt>Ctt	p.F874L	EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.F529L|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.F700L|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.F850L|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.F874L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	874						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAGGGTAAAAGGGCTGACCC	0.527000													3	228					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079717	34079717	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:34079717G>T	ENST00000254466.6	-	1	180	c.153C>A	c.(151-153)gaC>gaA	p.D51E	GAS2L2_ENST00000587565.1_Missense_Mutation_p.D51E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	51	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTTGGCTGCGTCGATGTCCA	0.607000													60	87					4.09166e-32	4.43406e-32	1	1	0
VTI1B	10490	broad.mit.edu	37	14	68120200	68120200	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:68120200C>T	ENST00000554659.1	-	5	897	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	186					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		CTCAAGTTTTCACTTGTGTTT	0.333000													12	46					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			54	16					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44532339	44532339	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:44532339G>A	ENST00000338758.7	+	7	696		c.e7-1		PARVB_ENST00000406477.3_Splice_Site|PARVB_ENST00000404989.1_Splice_Site	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta						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)				GGGGTTTTCAGAAACGGGAAG	0.542000													25	69					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118919580	118919580	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:118919580C>T	ENST00000404233.3	-	18	2135	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Missense_Mutation_p.E609K|HYOU1_ENST00000529972.1_Missense_Mutation_p.E609K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	671						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGCCCTGCCTCTGCCTTCTCA	0.612000													46	40					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226442	149226442	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:149226442G>C	ENST00000407073.1	+	9	1927	c.930G>C	c.(928-930)atG>atC	p.M310I	MBD5_ENST00000404807.1_Missense_Mutation_p.M310I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	310						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTCCAGTAATGAAAAAACCAA	0.448000													23	73					0	0	1	0	0
CCDC153	283152	broad.mit.edu	37	11	119061144	119061144	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:119061144G>C	ENST00000503566.2	-	6	497	c.498C>G	c.(496-498)ctC>ctG	p.L166L	CCDC153_ENST00000415318.1_Silent_p.L166L			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	166										lung(3)|stomach(1)	4						GCTTGGCCAAGAGCCTGTCCA	0.562000													74	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590304	179590304	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:179590304G>T	ENST00000589042.1	-	71	20851	c.20627C>A	c.(20626-20628)tCc>tAc	p.S6876Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6559Y|TTN_ENST00000342992.6_Missense_Mutation_p.S5632Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6559	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTTCTATGGATGCTTGTAA	0.423000													25	29					1.66031e-10	1.71322e-10	1	1	0
KLHL3	26249	broad.mit.edu	37	5	136969816	136969816	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:136969816G>A	ENST00000508657.1	-	12	1978	c.1264C>T	c.(1264-1266)Cgc>Tgc	p.R422C	KLHL3_ENST00000506491.1_Missense_Mutation_p.R372C|KLHL3_ENST00000309755.4_Missense_Mutation_p.R454C|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506873.1_5'UTR	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	454						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		AGACACTGGCGGGAAGCTCCA	0.557000													3	92					0	0	1	0	0
PAQR5	54852	broad.mit.edu	37	15	69677202	69677202	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:69677202C>T	ENST00000340965.3	+	5	1034	c.366C>T	c.(364-366)gcC>gcT	p.A122A	PAQR5_ENST00000395407.2_Silent_p.A122A|PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000561153.1_Silent_p.A122A	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	122					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	p.A122A(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						ACTATGGTGCCGTCAACCTCT	0.562000													16	19					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8718431	8718431	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:8718431G>C	ENST00000306329.11	+	2	1063	c.1063G>C	c.(1063-1065)Gat>Cat	p.D355H	SOGA2_ENST00000359865.3_5'UTR|SOGA2_ENST00000400050.3_5'UTR|SOGA2_ENST00000517570.1_5'UTR|SOGA2_ENST00000306285.7_5'UTR			Q9Y4B5	CC165_HUMAN	SOGA family member 2	346																	GGATGAGTTAGATGAACTCCG	0.433000													28	35					0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96859074	96859074	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:96859074C>G	ENST00000337288.5	-	4	949	c.566G>C	c.(565-567)aGa>aCa	p.R189T	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	189	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CCATTTTTTTCTATACTCTGT	0.443000													43	95					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38543250	38543250	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:38543250C>T	ENST00000356264.2	-	3	420	c.205G>A	c.(205-207)Ggc>Agc	p.G69S	AMPH_ENST00000428293.2_Splice_Site_p.G69S|AMPH_ENST00000325590.5_Splice_Site_p.G69S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	69	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TACACATTACCTTTGATTGCT	0.393000													129	87					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83081401	83081401	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:83081401C>T	ENST00000321196.3	+	1	743	c.36C>T	c.(34-36)ctC>ctT	p.L12L	TMTC2_ENST00000548305.1_Silent_p.L12L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	12						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCTGGGGCTCGCCTTGTATC	0.627000											OREG0022010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	25					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33364214	33364214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:33364214C>T	ENST00000374796.2	-	5	2843	c.273G>A	c.(271-273)tgG>tgA	p.W91*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.W91*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	91	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GCACGCTGTTCCAGGGCTCCA	0.473000													39	64					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110110816	110110816	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:110110816G>A	ENST00000230124.3	+	19	2240	c.2116G>A	c.(2116-2118)Gtt>Att	p.V706I	FIG4_ENST00000441478.2_Missense_Mutation_p.V429I	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	706					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GCCTAAGACCGTTGGAATTGA	0.358000													22	63					0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972750	61972750	+	Missense_Mutation	SNP	A	A	C	rs61763999	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:61972750A>C	ENST00000329882.8	-	4	609	c.539T>G	c.(538-540)tTt>tGt	p.F180C	CSH1_ENST00000453363.3_Intron|CSH1_ENST00000316193.8_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CTTACTGCTAAAAAGAGGGCA	0.557000									Russell-Silver syndrome				26	258					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32222088	32222088	+	Missense_Mutation	SNP	G	G	A	rs145025368		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:32222088G>A	ENST00000373658.3	-	4	691	c.350C>T	c.(349-351)gCg>gTg	p.A117V	BAI2_ENST00000398547.1_Missense_Mutation_p.A105V|BAI2_ENST00000398542.1_Missense_Mutation_p.A105V|BAI2_ENST00000398556.3_Missense_Mutation_p.A120V|BAI2_ENST00000373655.2_Missense_Mutation_p.A117V|BAI2_ENST00000398538.1_Missense_Mutation_p.A105V|BAI2_ENST00000257070.4_Missense_Mutation_p.A117V|BAI2_ENST00000527361.1_Missense_Mutation_p.A117V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	117					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGGGCCACCGCCTCCTCGGG	0.687000													3	14					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071151	9071151	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:9071151G>C	ENST00000397910.4	-	3	16498	c.16295C>G	c.(16294-16296)tCt>tGt	p.S5432C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5434	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTATGTCCAGACCCGGAAGT	0.522000													6	369					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150484939	150484939	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:150484939C>T	ENST00000369047.4	+	8	1320	c.1195C>T	c.(1195-1197)Cgg>Tgg	p.R399W	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.R426W|ECM1_ENST00000346569.6_Missense_Mutation_p.R274W	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	399	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTTTGCCCGTCGGGCTCCTTA	0.567000													21	100					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26675453	26675453	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:26675453C>T	ENST00000264866.4	+	11	1037	c.759C>T	c.(757-759)ccC>ccT	p.P253P	TBC1D19_ENST00000511789.1_Silent_p.P188P	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	253	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AAGGAAGTCCCACGGCACTGA	0.408000													5	43					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46773981	46773981	+	Missense_Mutation	SNP	C	C	T	rs55813660		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:46773981C>T	ENST00000394809.4	-	2	671	c.556G>A	c.(556-558)Gag>Aag	p.E186K	MYLK3_ENST00000536476.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	186					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCCCAGGCTCCCTGGCATCA	0.473000													12	165					0	0	1	0	0
SEC11C	90701	broad.mit.edu	37	18	56816747	56816747	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:56816747C>T	ENST00000587834.1	+	2	562	c.90C>T	c.(88-90)ctC>ctT	p.L30L	SEC11C_ENST00000588875.1_Silent_p.L30L	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	30					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				CATTCCAGCTCTATTACCAGG	0.448000													59	57					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95396758	95396758	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:95396758C>G	ENST00000371447.3	+	11	1558	c.1420C>G	c.(1420-1422)Caa>Gaa	p.Q474E		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	474					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.Q474*(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTAGAAATTTCAAGAGAAGTT	0.289000													17	10					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	50					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868200	37868200	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:37868200C>T	ENST00000406381.2	+	10	1341	c.831C>T	c.(829-831)gaC>gaT	p.D277D	ERBB2_ENST00000584601.1_Silent_p.D277D|ERBB2_ENST00000445658.2_Silent_p.D31D|ERBB2_ENST00000584450.1_Silent_p.D307D|ERBB2_ENST00000540042.1_Silent_p.D277D|ERBB2_ENST00000540147.1_Silent_p.D277D|ERBB2_ENST00000578199.1_Silent_p.D277D|ERBB2_ENST00000269571.5_Silent_p.D307D|ERBB2_ENST00000541774.1_Silent_p.D292D	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	307					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TTTCTACGGACGTGGGATCCT	0.577000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			30	4764					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57840060	57840060	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:57840060G>C	ENST00000264230.4	-	2	2510	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	425							GTP binding										ACATTAAGCTGATTTTGTTCT	0.368000													30	121					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115401142	115401142	+	Silent	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:115401142A>G	ENST00000369358.4	-	13	1549	c.1305T>C	c.(1303-1305)gtT>gtC	p.V435V	NRAP_ENST00000369360.3_Silent_p.V400V|NRAP_ENST00000359988.3_Silent_p.V435V|NRAP_ENST00000360478.3_Silent_p.V400V			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	435						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCAGGCTGCCAACTTTCATAG	0.458000													51	26					0	0	1	0	0
SOX2	6657	broad.mit.edu	37	3	181430953	181430953	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:181430953G>T	ENST00000325404.1	+	1	1232	c.805G>T	c.(805-807)Gac>Tac	p.D269Y	SOX2_ENST00000431565.2_Missense_Mutation_p.D269Y	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	269					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CCAGGCCGGGGACCTCCGGGA	0.682000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						47	84					1.95512e-22	2.09246e-22	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44969327	44969327	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:44969327G>A	ENST00000377967.4	+	28	4050	c.4009G>A	c.(4009-4011)Gag>Aag	p.E1337K	KDM6A_ENST00000543216.1_Missense_Mutation_p.E1258K|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Missense_Mutation_p.E1292K|KDM6A_ENST00000382899.4_Missense_Mutation_p.E1344K	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1337					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.E1337*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAAACAGGTGGAGGTTTTTGA	0.348000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								32	11					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11995859	11995859	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:11995859G>A	ENST00000333796.3	-	1	727	c.411C>T	c.(409-411)caC>caT	p.H137H	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	137					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GACCAGGACTGTGGAGGGCCC	0.532000													12	29					0	0	1	0	0
RAB3C	115827	broad.mit.edu	37	5	58021940	58021940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:58021940C>T	ENST00000282878.4	+	3	533	c.364C>T	c.(364-366)Caa>Taa	p.Q122*	RAB3C_ENST00000507977.1_3'UTR	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	122					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CAATGCAGTACAAGATTGGTA	0.398000													26	48					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83818645	83818645	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:83818645C>G	ENST00000349129.2	+	5	597	c.337C>G	c.(337-339)Ctt>Gtt	p.L113V	DOPEY1_ENST00000536812.1_Missense_Mutation_p.L113V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L113V|DOPEY1_ENST00000369739.3_Missense_Mutation_p.L113V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	113					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATTATTTCCTCTTCTTGCAAA	0.313000													24	56					0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118480669	118480669	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:118480669C>T	ENST00000315436.3	-	4	677	c.536G>A	c.(535-537)cGc>cAc	p.R179H	WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.R181H|WSB2_ENST00000441406.2_Missense_Mutation_p.R196H	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	179					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCCAGATGCGAAGAGTCTT	0.458000													39	146					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237156	140237156	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:140237156C>T	ENST00000307360.5	+	1	1523	c.1523C>T	c.(1522-1524)tCg>tTg	p.S508L	PCDHA10_ENST00000506939.2_Missense_Mutation_p.S508L|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACGTGTCGGTGCACGCG	0.692000													44	116					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32032113	32032113	+	Silent	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:32032113A>G	ENST00000360311.4	+	2	2091	c.1542A>G	c.(1540-1542)gaA>gaG	p.E514E		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AGTGTAATGAATGTGGCAAGG	0.393000													4	113					0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42999052	42999052	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:42999052C>G	ENST00000252115.5	-	2	278	c.174G>C	c.(172-174)caG>caC	p.Q58H	POLDIP3_ENST00000339677.6_Missense_Mutation_p.Q58H|POLDIP3_ENST00000348657.2_Missense_Mutation_p.Q58H	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	58					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGCCAATCTTCTGCCGGGCAT	0.557000													49	96					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34526618	34526618	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:34526618G>T	ENST00000374012.3	+	16	2429		c.e16-1		PHF20_ENST00000439301.1_Splice_Site			Q9BVI0	PHF20_HUMAN	PHD finger protein 20						regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCTCTCAACAGAAGCCGGGAG	0.542000													148	247					4.89347e-83	5.37038e-83	1	1	0
TACC2	10579	broad.mit.edu	37	10	123845062	123845062	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:123845062G>C	ENST00000369005.1	+	4	3387	c.3047G>C	c.(3046-3048)gGa>gCa	p.G1016A	TACC2_ENST00000515273.1_Missense_Mutation_p.G1016A|TACC2_ENST00000515603.1_Missense_Mutation_p.G1016A|TACC2_ENST00000334433.3_Missense_Mutation_p.G1016A|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.G1016A|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1016						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGCATCCAGGAGCTTCTGAA	0.557000													16	10					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231281027	231281027	+	Missense_Mutation	SNP	G	G	A	rs151275724	by1000genomes	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:231281027G>A	ENST00000264052.5	+	1	371	c.16G>A	c.(16-18)Ggc>Agc	p.G6S	SP100_ENST00000340126.4_Missense_Mutation_p.G6S|SP100_ENST00000409112.1_Missense_Mutation_p.G6S|SP100_ENST00000409824.1_Missense_Mutation_p.G6S|SP100_ENST00000409341.1_Missense_Mutation_p.G6S|SP100_ENST00000341950.4_Missense_Mutation_p.G6S|SP100_ENST00000427101.2_Missense_Mutation_p.G6S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	6	Poly-Gly.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGTGGGGGCGGCGACCTGAG	0.592000													6	23					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121652431	121652431	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:121652431C>G	ENST00000369075.3	+	1	209	c.137C>G	c.(136-138)tCt>tGt	p.S46C	SEC23IP_ENST00000543134.1_Missense_Mutation_p.L13V	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	46	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GCCTCCGCTTCTCCGGCCTCC	0.622000													50	9					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69097297	69097297	+	Missense_Mutation	SNP	T	T	C	rs76863529	by1000genomes	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:69097297T>C	ENST00000543976.1	-	2	805	c.559A>G	c.(559-561)Atg>Gtg	p.M187V	CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.M187V|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	187					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GGCACCTTCATATCCGATTCT	0.393000													42	144					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103002414	103002414	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:103002414G>T	ENST00000262457.2	+	6	873	c.688G>T	c.(688-690)Gct>Tct	p.A230S	INVS_ENST00000541287.1_Missense_Mutation_p.A134S|INVS_ENST00000262456.2_Missense_Mutation_p.A230S	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	230					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CTTTGCAGTTGCTGATGGGAA	0.463000													32	59					4.11147e-13	4.29384e-13	1	1	0
MAML1	9794	broad.mit.edu	37	5	179201773	179201773	+	Silent	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:179201773G>T	ENST00000292599.3	+	5	3209	c.2946G>T	c.(2944-2946)ggG>ggT	p.G982G	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	982					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGCAGTGGGCTCTCTAGTG	0.627000													22	52					1.37657e-19	1.46119e-19	1	1	0
ADD2	119	broad.mit.edu	37	2	70903919	70903919	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:70903919C>T	ENST00000413157.2	-	13	2081	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q	ADD2_ENST00000430656.1_Silent_p.Q550Q|ADD2_ENST00000407644.2_Intron|ADD2_ENST00000264436.4_Intron|ADD2_ENST00000355733.3_Intron	NM_017482.3	NP_059516.2	P35612	ADDB_HUMAN	adducin 2 (beta)	535					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGGCAGCCTCTGCTCTACCG	0.612000													71	13					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187176	37187176	+	RNA	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:37187176G>C	ENST00000425901.2	+	0	1018					NR_033753.2																						TCAACCTTTAGACCTGGGACT	0.498000													2	12					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616680	116616680	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:116616680C>T	ENST00000395715.3	-	4	2093	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	TRPS1_ENST00000220888.5_Missense_Mutation_p.E493K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E493K|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.E497K	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	493					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTCATTGTCTCTCCTTCTGAA	0.463000									Langer-Giedion syndrome				10	119					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793096	140793096	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:140793096G>A	ENST00000398610.2	+	1	354	c.354G>A	c.(352-354)gtG>gtA	p.V118V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACAGGGTGAAACTTTTTG	0.463000													19	32					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73110200	73110200	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:73110200G>C	ENST00000264839.7	+	30	4410	c.4410G>C	c.(4408-4410)gtG>gtC	p.V1470V	RIMS1_ENST00000491071.2_Silent_p.V1410V|RIMS1_ENST00000517827.1_Silent_p.V755V|RIMS1_ENST00000414192.2_Silent_p.V148V|RIMS1_ENST00000401910.3_Silent_p.V941V|RIMS1_ENST00000425662.2_Silent_p.V689V|RIMS1_ENST00000522291.1_Silent_p.V1220V|RIMS1_ENST00000523963.1_Silent_p.V746V|RIMS1_ENST00000521978.1_Silent_p.V1621V|RIMS1_ENST00000520567.1_Silent_p.V1271V|RIMS1_ENST00000348717.5_Silent_p.V1404V|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000538414.1_Silent_p.V427V|RIMS1_ENST00000517960.1_Silent_p.V1404V|RIMS1_ENST00000518273.1_Silent_p.V1300V			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1621					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCTGCAGGTGATTGTCTGGG	0.478000													11	43					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34526935	34526935	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:34526935G>A	ENST00000374012.3	+	16	2746	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCCCCTCCATGAGAACGGCGA	0.632000													38	59					0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46700690	46700690	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:46700690G>A	ENST00000311956.4	-	13	1314	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	406	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGTGATGGCCGCATCCTTGGC	0.552000													4	107					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93714878	93714878	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:93714878G>C	ENST00000334746.5	-	9	2372	c.2065C>G	c.(2065-2067)Cag>Gag	p.Q689E	BTBD7_ENST00000554565.1_Missense_Mutation_p.Q338E|BTBD7_ENST00000393170.2_Missense_Mutation_p.Q263E	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	689										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTCGAATCTGAATTTCATAG	0.517000													29	32					0	0	1	0	0
BTBD1	53339	broad.mit.edu	37	15	83735836	83735836	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:83735836G>A	ENST00000261721.4	-	1	270	c.68C>T	c.(67-69)gCg>gTg	p.A23V	RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.A23V	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	23						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		cggcggccccgcggggcccgg	0.736000													4	5					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076312	9076312	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:9076312T>C	ENST00000397910.4	-	3	11337	c.11134A>G	c.(11134-11136)Aca>Gca	p.T3712A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3713	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCATGATCTGTAGAAACCATT	0.458000													32	123					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116859168	116859168	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:116859168A>G	ENST00000265437.5	+	14	1650	c.1436A>G	c.(1435-1437)aAg>aGg	p.K479R	ST7_ENST00000393444.3_Missense_Mutation_p.K413R|ST7_ENST00000323984.3_Missense_Mutation_p.K479R|ST7_ENST00000393446.2_Intron|ST7_ENST00000393443.1_Missense_Mutation_p.K401R|ST7_ENST00000393449.1_Missense_Mutation_p.K474R|ST7_ENST00000393447.4_Missense_Mutation_p.K436R|ST7_ENST00000422922.1_Missense_Mutation_p.K410R|ST7_ENST00000432298.1_Missense_Mutation_p.K433R|ST7_ENST00000393451.3_Missense_Mutation_p.K456R	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	479						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCCTTGGAAAAGGGGCACCTA	0.453000													3	192					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588571	20588571	+	RNA	SNP	T	T	G	rs113432051	by1000genomes	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:20588571T>G	ENST00000428453.1	-	0	4179																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGAAGCCCAGTAGGCATCCAC	0.448000													4	44					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43011253	43011253	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:43011253G>A	ENST00000535468.1	-	17	3626	c.3540C>T	c.(3538-3540)ctC>ctT	p.L1180L	CUL7_ENST00000265348.3_Silent_p.L1096L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1096					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCAGGTGAGTGAGACGGCGCA	0.647000													79	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179556797	179556797	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:179556797C>G	ENST00000589042.1	-	121	31932	c.31708G>C	c.(31708-31710)Gag>Cag	p.E10570Q	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10253Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9326Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10253	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTCTCCTCTGGCACGGGT	0.453000													12	35					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10093067	10093067	+	Silent	SNP	C	C	T	rs11544574	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:10093067C>T	ENST00000380861.4	+	14	2221	c.1830C>T	c.(1828-1830)cgC>cgT	p.R610R	WWC3_ENST00000454666.1_Silent_p.R610R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	610										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TTCCTAGGCGCGACAGTGGCA	0.607000													14	27					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50660679	50660679	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:50660679G>C	ENST00000403097.1	-	18	2517	c.1737C>G	c.(1735-1737)ctC>ctG	p.L579L	GRB10_ENST00000402497.1_Silent_p.L527L|GRB10_ENST00000357271.5_Silent_p.L539L|GRB10_ENST00000335866.3_Silent_p.L527L|GRB10_ENST00000401949.1_Silent_p.L585L|GRB10_ENST00000406641.1_Silent_p.L527L|GRB10_ENST00000398810.2_Silent_p.L527L|GRB10_ENST00000439599.1_Silent_p.L579L|GRB10_ENST00000407526.1_Silent_p.L527L|GRB10_ENST00000398812.2_Silent_p.L585L|GRB10_ENST00000402578.1_Silent_p.L527L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	585					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AGTGGTGCTTGAGTTTGCAAG	0.522000									Russell-Silver syndrome				88	106					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97561859	97561859	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:97561859C>T	ENST00000369261.4	+	7	1191	c.828C>T	c.(826-828)gtC>gtT	p.V276V	KLHL32_ENST00000539200.1_Silent_p.V207V|KLHL32_ENST00000536676.1_Silent_p.V240V|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	276										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CACAGCCTGTCTGGCAGACTC	0.542000													31	43					0	0	1	0	0
C9orf78	51759	broad.mit.edu	37	9	132590500	132590500	+	Silent	SNP	G	G	A	rs147768922	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:132590500G>A	ENST00000372447.3	-	9	863	c.810C>T	c.(808-810)aaC>aaT	p.N270N		NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	270										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TTGCCTTCTCGTTAGCAGGAC	0.478000													57	69					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139760	55139760	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:55139760C>T	ENST00000257290.5	+	10	1752	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	474	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AACATCATCACGGAGATCCAC	0.493000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			47	58					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144946680	144946680	+	Missense_Mutation	SNP	C	C	T	rs144942272		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:144946680C>T	ENST00000369359.4	-	8	1030	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R260Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R194Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R331Q|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R194Q|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R194Q|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R194Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	194					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGTTTCTCCCGAGATAGCTG	0.458000			T	PDGFRB	MPD								8	67					0	0	1	0	0
TMEM87A	25963	broad.mit.edu	37	15	42512293	42512293	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:42512293C>T	ENST00000389834.4	-	16	1708	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Missense_Mutation_p.E421K	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	482	Poly-Glu.					integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TCCTTTTGTTCATCCTCCTCC	0.318000													27	91					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56641847	56641847	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:56641847G>C	ENST00000267116.7	-	18	2059	c.1938C>G	c.(1936-1938)atC>atG	p.I646M		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	646							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TGCGCTCCTTGATGAGGGCAG	0.637000													10	15					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268537	1268537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:1268537C>A	ENST00000447027.1	+	31	10494	c.10436C>A	c.(10435-10437)tCg>tAg	p.S3479*	MUC5B_ENST00000529681.1_Nonsense_Mutation_p.S3476*|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3476	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGGCCACCTCGGGCATCTTG	0.672000													24	130					2.87052e-16	3.02221e-16	1	1	0
HNRNPUL1	11100	broad.mit.edu	37	19	41782119	41782119	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:41782119C>T	ENST00000392006.3	+	5	875	c.702C>T	c.(700-702)ctC>ctT	p.L234L	HNRNPUL1_ENST00000593587.1_Silent_p.L134L|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000602130.1_Silent_p.L234L|HNRNPUL1_ENST00000595018.1_Silent_p.L134L|HNRNPUL1_ENST00000378215.4_Silent_p.L191L|HNRNPUL1_ENST00000352456.3_Silent_p.L134L|HNRNPUL1_ENST00000263367.3_Silent_p.L145L	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	234	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GCTATCCGCTCACAATTGAGG	0.517000													101	138					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134219	119134219	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:119134219C>G	ENST00000264245.4	+	12	3975	c.3443C>G	c.(3442-3444)tCt>tGt	p.S1148C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1148					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATGACCTCATCTTACTGTAAA	0.532000													27	46					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18322409	18322409	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:18322409C>T	ENST00000396253.3	-	8	1071	c.609G>A	c.(607-609)caG>caA	p.Q203Q	HPS5_ENST00000349215.3_Silent_p.Q317Q|HPS5_ENST00000531848.1_Silent_p.Q203Q|HPS5_ENST00000438420.2_Silent_p.Q203Q	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	317						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTGAACATTCTGAGGAATGA	0.323000									Hermansky-Pudlak syndrome				20	19					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71844153	71844153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:71844153G>T	ENST00000377245.4	+	10	1715	c.1507G>T	c.(1507-1509)Gaa>Taa	p.E503*	TJP2_ENST00000453658.2_Nonsense_Mutation_p.E480*|TJP2_ENST00000348208.4_Nonsense_Mutation_p.E503*|TJP2_ENST00000265384.7_Nonsense_Mutation_p.E503*|TJP2_ENST00000535702.1_Nonsense_Mutation_p.E507*|TJP2_ENST00000539225.1_Nonsense_Mutation_p.E534*	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	503					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCCTGAAGATGAAGCAATATA	0.423000													102	50					6.23295e-54	6.81153e-54	1	1	0
UNC13B	10497	broad.mit.edu	37	9	35400365	35400365	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:35400365C>T	ENST00000378495.3	+	36	4384	c.4162C>T	c.(4162-4164)Cgc>Tgc	p.R1388C	UNC13B_ENST00000396787.1_Missense_Mutation_p.R1400C|UNC13B_ENST00000378496.4_Missense_Mutation_p.R1388C	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1388	MHD2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGTCTCTACGCTATGCCCT	0.522000													119	174					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62397103	62397103	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:62397103G>C	ENST00000346178.4	-	16	1872	c.1857C>G	c.(1855-1857)ccC>ccG	p.P619P	GANAB_ENST00000356638.3_Silent_p.P597P|GANAB_ENST00000534779.1_Silent_p.P505P|GANAB_ENST00000540933.1_Silent_p.P500P	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	597					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CCAGGACAAAGGGGCGTTCCA	0.597000													14	35					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17976513	17976513	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:17976513G>C	ENST00000400573.5	+	3	241	c.234G>C	c.(232-234)ctG>ctC	p.L78L	CECR2_ENST00000342247.5_Silent_p.L58L|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000262608.8_Silent_p.L59L|CECR2_ENST00000497534.1_3'UTR			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAACCCTCTGAGGGAAGCCA	0.567000													20	93					0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149463272	149463272	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:149463272C>G	ENST00000302017.3	-	5	732	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCGACCTCCTCTTCTGCCTCC	0.572000													34	44					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													7	312	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													9	695	---	---	---	---					
MFSD10	10227	broad.mit.edu	37	4	2932969	2932969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:2932969delC	ENST00000329687.4	-	10	1681	c.1147delG	c.(1147-1149)gtgfs	p.V384fs	MFSD10_ENST00000514800.1_Frame_Shift_Del_p.V384fs|MFSD10_ENST00000355443.4_Frame_Shift_Del_p.V384fs|MFSD10_ENST00000507555.1_Frame_Shift_Del_p.P346fs|MFSD10_ENST00000508221.1_Intron	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	384					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCAGCGACCACGGAGGACAGG	0.692													2	4	---	---	---	---					
HHIP	64399	broad.mit.edu	37	4	145567851	145567853	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:145567851_145567853delGCT	ENST00000296575.3	+	1	679_681	c.24_26delGCT	c.(22-27)aagctg>aag	p.L12del	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_In_Frame_Del_p.L12del	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	12						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCTCCTTTAAGCTGCTGCTGCTG	0.621											OREG0016346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	536	---	---	---	---					
RP1L1	94137	broad.mit.edu	37	8	10467629	10467630	+	In_Frame_Ins	INS	-	-	TTC	rs146656804	by1000genomes	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:10467629_10467630insTTC	ENST00000382483.3	-	4	4201_4202	c.3978_3979insGAA	c.(3976-3981)aaaaca>aaaGAAaca	p.1326_1327KT>KET		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1326					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ccttcttctgttttagtttcct	0.455													4	5	---	---	---	---					
SLC38A2	54407	broad.mit.edu	37	12	46757539	46757540	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:46757539_46757540insA	ENST00000256689.5	-	12	1467_1468	c.1023_1024insT	c.(1021-1026)cttgccfs	p.A342fs	SLC38A2_ENST00000551374.1_Frame_Shift_Ins_p.A180fs	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	342					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAGAGGGCGGCAAGCAGATACA	0.347													49	46	---	---	---	---					
EEF1DP3	196549	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	GT	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr13:32527507_32527508delGT	ENST00000428783.1	+	0	1207_1208																											TCTGGCCTGAGTGTGTGTGTGT	0.460													7	119	---	---	---	---					
LRCH1	23143	broad.mit.edu	37	13	47243183	47243186	+	Frame_Shift_Del	DEL	CCTG	CCTG	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr13:47243183_47243186delCCTG	ENST00000311191.6	+	3	700_703	c.471_474delCCTG	c.(469-474)gccctgfs	p.AL157fs	LRCH1_ENST00000389798.3_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	157										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCTGTCCGCCCTGCCTGCCTGCC	0.436													7	318	---	---	---	---					
SNORA11	677799	broad.mit.edu	37	14	70270921	70270922	+	RNA	INS	-	-	T	rs11429169		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:70270921_70270922insT	ENST00000408133.1	-	0	126_127																											CATGGATTCTCTTTTTTTTTTT	0.351													6	8	---	---	---	---					
THSD4	79875	broad.mit.edu	37	15	72039168	72039176	+	Splice_Site	DEL	CTGAACCAG	CTGAACCAG	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:72039168_72039176delCTGAACCAG	ENST00000355327.3	+	13	2170		c.e13-1		THSD4_ENST00000357769.4_Splice_Site|THSD4_ENST00000261862.6_Splice_Site|THSD4_ENST00000567838.1_Splice_Site			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4							proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCTCATTCCTGAACCAGCTGGGACATC	0.584													12	101	---	---	---	---					
U95743.1	0	broad.mit.edu	37	16	13864498	13864500	+	RNA	DEL	GGA	GGA	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:13864498_13864500delGGA	ENST00000573369.1	-	0	371																											ggaaggagagggaggaggaggag	0.512													2	4	---	---	---	---					
FBXW9	84261	broad.mit.edu	37	19	12800930	12800931	+	In_Frame_Ins	INS	-	-	GAA			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:12800930_12800931insGAA	ENST00000380339.3	-	6	1003_1004	c.967_968insTTC	c.(967-969)cat>cTTCat	p.322_323insL	FBXW9_ENST00000393261.3_Intron|FBXW9_ENST00000587955.1_In_Frame_Ins_p.312_313insL|FBXW9_ENST00000544494.1_Intron			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	322							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GCCGGCTTCATGGGTGATGGGC	0.634													23	107	---	---	---	---