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
HFM1	164045	broad.mit.edu	37	1	91843738	91843738	+	Silent	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:91843738T>A	ENST00000370425.3	-	11	1337	c.1239A>T	c.(1237-1239)gtA>gtT	p.V413V	HFM1_ENST00000370424.3_Silent_p.V92V|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	413	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.V413V(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTACAATATGTACCTAAGCAG	0.274													5	89	---	---	---	---
THUMPD2	80745	broad.mit.edu	37	2	39982551	39982551	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:39982551T>A	ENST00000505747.1	-	8	991		c.e8-2		THUMPD2_ENST00000260619.6_Splice_Site	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2								methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				ATACACATCCTATGGGGAAAT	0.323													4	77	---	---	---	---
KDM3A	55818	broad.mit.edu	37	2	86705343	86705343	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:86705343C>T	ENST00000409556.1	+	15	2508	c.2143C>T	c.(2143-2145)Cat>Tat	p.H715Y	KDM3A_ENST00000542128.1_Missense_Mutation_p.H663Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.H715Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.H715Y			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	715					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.H715Y(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAGTCAGATACATGAACCAGA	0.408													27	159	---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102842427	102842427	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:102842427A>T	ENST00000264257.2	+	9	1187	c.1061A>T	c.(1060-1062)tAc>tTc	p.Y354F	IL1RL2_ENST00000539491.1_Missense_Mutation_p.Y354F|IL1RL2_ENST00000441515.2_Missense_Mutation_p.Y236F|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	354					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.Y236F(1)|p.Y354F(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCTGTTGTGTACATATACAAC	0.383													5	82	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160688257	160688257	+	Silent	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:160688257C>T	ENST00000263636.4	-	28	3909	c.3882G>A	c.(3880-3882)gaG>gaA	p.E1294E	LY75_ENST00000554112.1_Silent_p.E1294E|LY75-CD302_ENST00000505052.1_Silent_p.E1294E|LY75_ENST00000553424.1_Silent_p.E1294E|LY75-CD302_ENST00000504764.1_Silent_p.E1294E	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.E1294E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CAAAGTTATTCTCCTTTTCAT	0.294													6	165	---	---	---	---
TMEM198	130612	broad.mit.edu	37	2	220414063	220414063	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:220414063A>G	ENST00000344458.2	+	5	1517	c.932A>G	c.(931-933)gAc>gGc	p.D311G	TMEM198_ENST00000373883.3_Missense_Mutation_p.D311G			Q66K66	TM198_HUMAN	transmembrane protein 198	311						integral to membrane		p.D311G(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TTCAATGGAGACGTCCTCTCC	0.632													3	61	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1427451	1427451	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:1427451C>T	ENST00000446702.2	+	20	3301	c.2674C>T	c.(2674-2676)Ccc>Tcc	p.P892S	CNTN6_ENST00000350110.2_Missense_Mutation_p.P892S|CNTN6_ENST00000539053.1_Missense_Mutation_p.P820S			Q9UQ52	CNTN6_HUMAN	contactin 6	892	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.P892S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCCCTCAAGCCCCCCAGTCAA	0.453													7	240	---	---	---	---
DAG1	1605	broad.mit.edu	37	3	49570280	49570280	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:49570280G>A	ENST00000545947.1	+	6	3058	c.2336G>A	c.(2335-2337)cGg>cAg	p.R779Q	DAG1_ENST00000539901.1_Missense_Mutation_p.R779Q|DAG1_ENST00000308775.2_Missense_Mutation_p.R779Q|DAG1_ENST00000515359.2_Missense_Mutation_p.R779Q|DAG1_ENST00000538711.1_Missense_Mutation_p.R779Q|DAG1_ENST00000541308.1_Missense_Mutation_p.R779Q	NM_001177634.2	NP_001171105	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	779					cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	p.R779Q(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGCAAGAAGCGGAAGGGCAAG	0.572													3	62	---	---	---	---
SPATA12	353324	broad.mit.edu	37	3	57108293	57108293	+	Nonstop_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:57108293T>A	ENST00000334325.1	+	2	1246	c.571T>A	c.(571-573)Taa>Aaa	p.*191K	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	0										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CACACATCTGTAATCAATAAT	0.512													7	233	---	---	---	---
WDR52	55779	broad.mit.edu	37	3	113152410	113152410	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:113152410A>T	ENST00000393845.2	-	2	167		c.e2+1		WDR52_ENST00000295868.2_Splice_Site|WDR52-AS1_ENST00000498480.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52									p.?(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATCTTTACTTACATCTTGATT	0.299													8	206	---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141161343	141161343	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:141161343T>C	ENST00000514251.1	+	4	392	c.113T>C	c.(112-114)aTt>aCt	p.I38T	ZBTB38_ENST00000321464.5_Missense_Mutation_p.I39T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I38T			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	38	BTB.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I38T(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTCACTATCATTGTGGAAGAT	0.428													10	387	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66356112	66356112	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:66356112A>T	ENST00000273854.3	-	5	1985	c.1385T>A	c.(1384-1386)gTa>gAa	p.V462E	EPHA5_ENST00000511294.1_Missense_Mutation_p.V462E|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V462E	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	462					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.V462E(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATTTGTGGTTACATTTACAGA	0.473										TSP Lung(17;0.13)			6	91	---	---	---	---
CSN1S1	1446	broad.mit.edu	37	4	70798273	70798273	+	Translation_Start_Site	SNP	C	C	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:70798273C>A	ENST00000246891.4	+	0	49				CSN1S1_ENST00000507763.1_De_novo_Start_InFrame|CSN1S1_ENST00000505782.1_5'Flank|CSN1S1_ENST00000444405.3_De_novo_Start_InFrame|CSN1S1_ENST00000507772.1_5'Flank	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1							extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CTCTGATAACCATGAGGCTTC	0.353													4	21	---	---	---	---
UFL1	23376	broad.mit.edu	37	6	96974309	96974309	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr6:96974309C>G	ENST00000369278.4	+	5	529	c.463C>G	c.(463-465)Cag>Gag	p.Q155E		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	155	Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										CTTTCTGACACAGGTATTTTT	0.368													4	150	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152536125	152536125	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr6:152536125G>A	ENST00000367255.5	-	122	22863	c.22262C>T	c.(22261-22263)cCc>cTc	p.P7421L	SYNE1_ENST00000341594.5_Missense_Mutation_p.P7033L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7421L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P1945L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7421					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	p.P7421L(3)		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)		ATCATTCAAGGGTAACCTATA	0.398										HNSCC(10;0.0054)			13	269	---	---	---	---
ATP6V0A4	50617	broad.mit.edu	37	7	138437474	138437474	+	Silent	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr7:138437474G>A	ENST00000310018.2	-	11	1207	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	ATP6V0A4_ENST00000353492.4_Silent_p.L309L|ATP6V0A4_ENST00000393054.1_Silent_p.L309L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	309					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.L309L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACATGTTCAGGATGTGGTAG	0.572													4	137	---	---	---	---
BTBD10	84280	broad.mit.edu	37	11	13424827	13424827	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:13424827T>A	ENST00000278174.5	-	8	1252		c.e8-2		BTBD10_ENST00000530907.1_Splice_Site|BTBD10_ENST00000528120.1_Splice_Site	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10							nucleus		p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TATAAATAACTAGAAACAAAA	0.294													8	192	---	---	---	---
MRGPRX4	117196	broad.mit.edu	37	11	18195494	18195494	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:18195494C>T	ENST00000314254.3	+	1	1111	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	231						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P231S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGCGGCCTGCCCTTCGGCAT	0.532													21	99	---	---	---	---
UEVLD	55293	broad.mit.edu	37	11	18579845	18579845	+	Silent	SNP	G	G	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:18579845G>C	ENST00000396197.3	-	7	673	c.645C>G	c.(643-645)ctC>ctG	p.L215L	UEVLD_ENST00000543987.1_Silent_p.L215L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Silent_p.L115L|UEVLD_ENST00000320750.6_Silent_p.L193L|UEVLD_ENST00000535484.1_Silent_p.L177L|UEVLD_ENST00000379387.4_Silent_p.L193L	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	215					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	p.L215L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCCCTTCTGAGAGGTCTAAGA	0.413													7	106	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46322640	46322640	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:46322640T>A	ENST00000369367.3	-	11	1077	c.844A>T	c.(844-846)Act>Tct	p.T282S	SCAF11_ENST00000549162.1_Missense_Mutation_p.T90S|SCAF11_ENST00000419565.2_Missense_Mutation_p.T282S|SCAF11_ENST00000465950.1_5'UTR	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	282					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.T282S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTGCAAGAAGTACCtaataat	0.308													6	123	---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51089055	51089055	+	Silent	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:51089055A>T	ENST00000301180.5	+	15	1759	c.1725A>T	c.(1723-1725)gtA>gtT	p.V575V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	575						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCAGAATGTAATGAATAAGA	0.333													7	234	---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56811998	56811998	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:56811998T>C	ENST00000229201.4	-	27	3525	c.3371A>G	c.(3370-3372)cAc>cGc	p.H1124R	TIMELESS_ENST00000553532.1_Missense_Mutation_p.H1125R|TIMELESS_ENST00000554616.1_Missense_Mutation_p.H622R	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1125					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.H1125R(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTCTTTACAGTGCTCCTCATC	0.582													90	562	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25376711	25376711	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.?(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTAGCAAAGTAAGTAACTTA	0.323													8	170	---	---	---	---
KBTBD7	84078	broad.mit.edu	37	13	41767606	41767606	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr13:41767606T>C	ENST00000379483.3	-	1	1096	c.788A>G	c.(787-789)aAg>aGg	p.K263R		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	263							protein binding	p.K263R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCGCACGCACTTGAAGACTTC	0.537													4	114	---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39874829	39874829	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:39874829A>G	ENST00000260356.5	+	3	668	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	168	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.Y168C(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCCCAGCTGTACATCGACTGT	0.562													5	84	---	---	---	---
PPIP5K1	9677	broad.mit.edu	37	15	43827082	43827082	+	Silent	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:43827082G>A	ENST00000420765.1	-	31	4274	c.4092C>T	c.(4090-4092)acC>acT	p.T1364T	PPIP5K1_ENST00000381879.4_Silent_p.T1340T|PPIP5K1_ENST00000381885.1_Silent_p.T1360T|PPIP5K1_ENST00000396923.3_Silent_p.T1364T|PPIP5K1_ENST00000334933.4_Silent_p.T1339T|PPIP5K1_ENST00000360135.4_Silent_p.T1337T|PPIP5K1_ENST00000360301.4_Silent_p.T1339T|PPIP5K1_ENST00000348806.6_Silent_p.T1337T	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1364					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.T1364T(1)		large_intestine(1)	1						CTTCTACAAGGGTTTCCTGGA	0.577													8	217	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10310244	10310244	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr17:10310244A>G	ENST00000403437.2	-	18	2112	c.2018T>C	c.(2017-2019)gTa>gCa	p.V673A	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	673	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.V673A(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GATACACCGTACGAAGTGAGG	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				22	126	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr18:18586746T>A	ENST00000399799.2	-	15	2492	c.1552A>T	c.(1552-1554)Aca>Tca	p.T518S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.T518S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTTTAATGTAGAAACTAGA	0.308													7	202	---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5456787	5456787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr19:5456787C>T	ENST00000222033.4	+	1	1362	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	429						integral to membrane	zinc ion binding	p.Q429*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCCCCTGGTCAGTAAAGATC	0.582													9	37	---	---	---	---
SLC6A16	28968	broad.mit.edu	37	19	49812329	49812329	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr19:49812329G>T	ENST00000454748.3	-	7	1234	c.1033C>A	c.(1033-1035)Caa>Aaa	p.Q345K	SLC6A16_ENST00000335875.4_Missense_Mutation_p.Q345K			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	345						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.Q345K(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GACAAAACTTGACCCCCTGCT	0.483													8	279	---	---	---	---
SYNJ1	8867	broad.mit.edu	37	21	34066614	34066614	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr21:34066614T>A	ENST00000382499.2	-	6	829	c.830A>T	c.(829-831)tAc>tTc	p.Y277F	SYNJ1_ENST00000322229.7_Missense_Mutation_p.Y238F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Y277F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	238	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCATCTAAGTACACAACCTA	0.323													4	73	---	---	---	---
CSTB	1476	broad.mit.edu	37	21	45194208	45194208	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr21:45194208G>A	ENST00000291568.5	-	3	347	c.172C>T	c.(172-174)Cac>Tac	p.H58Y		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	58						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding	p.H58Y(1)		lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TCGCCGACGTGCACCTGGGAA	0.537													21	118	---	---	---	---
VSIG4	11326	broad.mit.edu	37	X	65252421	65252421	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chrX:65252421T>C	ENST00000455586.2	-	3	709	c.583A>G	c.(583-585)Acc>Gcc	p.T195A	VSIG4_ENST00000374737.4_Missense_Mutation_p.T195A|VSIG4_ENST00000412866.2_Intron	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	195	Ig-like 2.				complement activation, alternative pathway	integral to membrane	protein binding	p.T195A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGAGTAAGGTACTTAGGGTT	0.498													6	66	---	---	---	---
