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
CHCHD5	84269	broad.mit.edu	37	2	113343977	113343977	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:113343977C>T	ENST00000409719.1	+	3	397	c.344C>T	c.(343-345)tCc>tTc	p.S115F	CHCHD5_ENST00000324913.5_Intron			Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	0										NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						TCTCTTTTCTCCATAACATCC	0.557000													5	19					0	0	0.014758	0	0
SNHG14	104472715	broad.mit.edu	37	15	25232225	25232225	+	RNA	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:25232225T>A	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						ATTGCATTAATGAGTAGTAGG	0.383000													6	2					0	0	0.021553	0	0
SOGA3	387104	broad.mit.edu	37	6	127796905	127796905	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:127796905C>T	ENST00000556132.1	-	6	3130	c.2266G>A	c.(2266-2268)Gac>Aac	p.D756N	SOGA3_ENST00000525778.1_Missense_Mutation_p.D756N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D756N|SOGA3_ENST00000481848.2_Missense_Mutation_p.D756N|SOGA3_ENST00000465909.2_Missense_Mutation_p.D756N	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	756						integral to membrane											TTGCCCGCGTCGCTCTCGGCG	0.692000													24	53					0	0	0.099896	0	0
CTNND2	1501	broad.mit.edu	37	5	11565110	11565110	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:11565110C>T	ENST00000304623.8	-	3	422	c.233G>A	c.(232-234)aGc>aAc	p.S78N	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.S78N|CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000503622.1_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	78					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCAGCTGGCTGGCTACGAT	0.517000													16	15					0	0	0.033300	0	0
ACOT2	10965	broad.mit.edu	37	14	74036297	74036297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:74036297C>T	ENST00000238651.5	+	1	535	c.353C>T	c.(352-354)aCt>aTt	p.T118I	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	118					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CGCGCCGACACTCTTGGCGAG	0.741000													17	16					0	0	0.049695	0	0
CYP7A1	1581	broad.mit.edu	37	8	59410989	59410989	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:59410989T>C	ENST00000301645.3	-	2	257	c.120A>G	c.(118-120)ccA>ccG	p.P40P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	40					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AGCCCAGGTATGGAATTAATC	0.418000									Neonatal Giant Cell Hepatitis				72	210					0	0	0.139131	0	0
HECTD1	25831	broad.mit.edu	37	14	31581699	31581699	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:31581699T>C	ENST00000399332.1	-	35	6689	c.6201A>G	c.(6199-6201)ttA>ttG	p.L2067L	HECTD1_ENST00000553700.1_Silent_p.L2067L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2067	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATTTGCTGGTTAATTGTTCAC	0.393000													16	33					0	0	0.033300	0	0
FOXA2	3170	broad.mit.edu	37	20	22563619	22563619	+	Silent	SNP	G	G	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:22563619G>C	ENST00000419308.2	-	2	445	c.243C>G	c.(241-243)tcC>tcG	p.S81S	FOXA2_ENST00000319993.4_Silent_p.S87S|FOXA2_ENST00000377115.4_Silent_p.S81S	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	81	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCGCGCCGGGGGACATCCCCG	0.766000													19	37					0	0	0.055883	0	0
CCDC141	285025	broad.mit.edu	37	2	179736188	179736188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:179736188C>T	ENST00000420890.2	-	14	2288	c.2171G>A	c.(2170-2172)cGa>cAa	p.R724Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.R149Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	149							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCATTTTTGTCGTAGATCTAA	0.393000													33	162					0	0	0.054565	0	0
MUC16	94025	broad.mit.edu	37	19	9058238	9058238	+	Silent	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:9058238C>A	ENST00000397910.4	-	3	29411	c.29208G>T	c.(29206-29208)acG>acT	p.T9736T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9738	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGTGAGGTCGTGAGAGGTA	0.502000													15	23					0.00244969	0.00257163	0.119110	1	0
TTC40	54777	broad.mit.edu	37	10	134648256	134648256	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:134648256T>C	ENST00000368586.5	-	48	6868	c.6768A>G	c.(6766-6768)gaA>gaG	p.E2256E	TTC40_ENST00000263170.5_Silent_p.E417E	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	417										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCTCCTTCTCTTCCACCTGCA	0.652000													4	10					0	0	0.009096	0	0
ZNF479	90827	broad.mit.edu	37	7	57188062	57188062	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:57188062C>T	ENST00000331162.4	-	5	1330	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTTCACAGGCATAGGGTTTC	0.443000													4	11					0	0	0.021553	0	0
CD38	952	broad.mit.edu	37	4	15835919	15835919	+	Silent	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:15835919C>A	ENST00000226279.2	+	4	716	c.579C>A	c.(577-579)tcC>tcA	p.S193S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	193					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AAACGGTTTCCCGCAGGGTAA	0.403000													9	30					0.000274275	0.000290556	0.047766	1	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967483	31967483	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:31967483C>T	ENST00000357886.4	-	9	1086	c.933G>A	c.(931-933)gtG>gtA	p.V311V	CDK5RAP1_ENST00000544843.1_Silent_p.V297V|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000452723.3_Silent_p.V207V|CDK5RAP1_ENST00000346416.2_Silent_p.V297V|CDK5RAP1_ENST00000473997.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	311					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CAAGAAGTGTCACTTCTTTCA	0.368000													8	58					0	0	0.058154	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	44					0	0	0.009096	0	0
PARL	55486	broad.mit.edu	37	3	183547407	183547407	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:183547407T>C	ENST00000317096.4	-	10	1179	c.1119A>G	c.(1117-1119)aaA>aaG	p.K373K	PARL_ENST00000435888.1_Silent_p.K289K|PARL_ENST00000311101.5_Silent_p.K323K	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	373					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACCTCCTTTTTTGGGGCCAT	0.488000													67	182					0	0	0.139131	0	0
CACNA1I	8911	broad.mit.edu	37	22	40060149	40060149	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:40060149C>T	ENST00000336649.4	+	23	3669	c.3669C>T	c.(3667-3669)ggC>ggT	p.G1223G	CACNA1I_ENST00000407673.1_Silent_p.G1182G|CACNA1I_ENST00000404898.1_Silent_p.G1182G|CACNA1I_ENST00000402142.3_Silent_p.G1217G|CACNA1I_ENST00000401624.1_Silent_p.G1217G|CACNA1I_ENST00000400164.3_Silent_p.G1182G			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1217					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCTTCGTGGGCGAGATGACAT	0.612000													6	19					0	0	0.038147	0	0
MLNR	2862	broad.mit.edu	37	13	49795353	49795353	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:49795353C>T	ENST00000398307.1	+	1	880	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	MLNR_ENST00000218721.1_Missense_Mutation_p.R294W			O43193	MTLR_HUMAN	motilin receptor	294					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GAGAGGCCACCGGCAGACCGT	0.736000													3	2					0	0	0.014758	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103513864	103513864	+	Nonstop_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:103513864A>T	ENST00000602836.1	+	15	1956	c.1956A>T	c.(1954-1956)tgA>tgT	p.*652C	ERCC5_ENST00000355739.4_Missense_Mutation_p.D227V	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TAGGAGTCTGATGACTTTTCA	0.338000													36	21					0	0	0.086207	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907251	164907251	+	Silent	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:164907251G>T	ENST00000475390.1	-	2	1811	c.1368C>A	c.(1366-1368)ccC>ccA	p.P456P	SLITRK3_ENST00000241274.3_Silent_p.P456P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	456						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCTTTAAGTTGGGCAAGTTGA	0.428000										HNSCC(40;0.11)			9	35					3.09899e-07	3.37542e-07	0.047766	1	0
CNTN1	1272	broad.mit.edu	37	12	41302265	41302265	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:41302265G>T	ENST00000551295.2	+	2	148	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	CNTN1_ENST00000348761.2_Missense_Mutation_p.V11L|CNTN1_ENST00000347616.1_Missense_Mutation_p.V11L|CNTN1_ENST00000547849.1_Missense_Mutation_p.V11L|CNTN1_ENST00000547702.1_Missense_Mutation_p.V11L|CNTN1_ENST00000360099.3_Missense_Mutation_p.V11L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	11					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGTCATCTTGTGATAATATC	0.299000													26	21					1.55811e-20	1.89257e-20	0.134883	1	0
SESTD1	91404	broad.mit.edu	37	2	180036936	180036936	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:180036936G>A	ENST00000428443.3	-	5	596	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	94	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACACAAACAAGGGACACCTCA	0.308000													20	58					0	0	0.062417	0	0
NXPE3	91775	broad.mit.edu	37	3	101535759	101535759	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:101535759C>G	ENST00000422132.1	+	4	1240	c.1043C>G	c.(1042-1044)aCa>aGa	p.T348R	NXPE3_ENST00000491511.1_Missense_Mutation_p.T348R|NXPE3_ENST00000273347.5_Missense_Mutation_p.T348R|NXPE3_ENST00000477909.1_Missense_Mutation_p.T348R					neurexophilin and PC-esterase domain family, member 3																		GACAACATTACAGAGTGCTTA	0.408000													29	113					0	0	0.144211	0	0
TEKT3	64518	broad.mit.edu	37	17	15231309	15231309	+	Splice_Site	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:15231309C>A	ENST00000395930.1	-	4	849	c.663_splice	c.e4+1	p.T221_splice	TEKT3_ENST00000338696.2_Splice_Site_p.T221_splice	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	221					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CCACATTTACCGTCAGCAGTT	0.388000													127	72					3.47496e-60	4.31118e-60	0.139131	1	0
FAM19A4	151647	broad.mit.edu	37	3	68802098	68802098	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:68802098C>T	ENST00000295569.7	-	4	694	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	68						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		GACCGCTCTTCTATGCGGTTC	0.537000													21	25					0	0	0.069288	0	0
DDX55	57696	broad.mit.edu	37	12	124104214	124104214	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:124104214G>A	ENST00000238146.4	+	13	1619	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	DDX55_ENST00000421670.3_Silent_p.K130K|DDX55_ENST00000538744.1_Silent_p.K492K	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	523	Lys-rich.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		cttggtcaaagcagaaggcca	0.328000													7	15					0	0	0.047766	0	0
FAT3	120114	broad.mit.edu	37	11	92087366	92087366	+	Silent	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:92087366A>G	ENST00000298047.6	+	1	2105	c.2088A>G	c.(2086-2088)ctA>ctG	p.L696L	FAT3_ENST00000409404.2_Silent_p.L696L|FAT3_ENST00000525166.1_Silent_p.L546L|FAT3_ENST00000541502.1_Silent_p.L696L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	696					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)				CAGAGAAACTACTCATTAAGG	0.388000										TCGA Ovarian(4;0.039)			19	44					0	0	0.043863	0	0
CDC20	991	broad.mit.edu	37	1	43825057	43825057	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:43825057C>T	ENST00000372462.1	+	1	374	c.171C>T	c.(169-171)ggC>ggT	p.G57G	CDC20_ENST00000310955.6_Silent_p.G57G			Q12834	CDC20_HUMAN	cell division cycle 20	57					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGACTCCGGGCCGAACTCCTG	0.662000													20	10					0	0	0.055883	0	0
PCDH10	57575	broad.mit.edu	37	4	134084195	134084195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:134084195G>A	ENST00000264360.4	+	4	3687	c.2861G>A	c.(2860-2862)tGg>tAg	p.W954*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	954					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GATCGGTGCTGGATGCCTTCT	0.488000													34	26					0	0	0.069456	0	0
ZNF799	90576	broad.mit.edu	37	19	12501389	12501389	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:12501389T>A	ENST00000419318.1	-	4	2476	c.1727A>T	c.(1726-1728)aAg>aTg	p.K576M	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.K608M			Q96GE5	ZN799_HUMAN	zinc finger protein 799	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCAGTGAGTCTTTTTATGTCT	0.403000													54	96					0	0	0.139131	0	0
CCDC88B	283234	broad.mit.edu	37	11	64116884	64116884	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:64116884C>T	ENST00000356786.5	+	15	2742	c.2698C>T	c.(2698-2700)Ctc>Ttc	p.L900F	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.L52F	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	900					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGGCGGCTCTCGAGCGCCA	0.637000													4	23					0	0	0.009096	0	0
ARPC1A	10552	broad.mit.edu	37	7	98931012	98931012	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:98931012C>T	ENST00000262942.5	+	2	160	c.36C>T	c.(34-36)acC>acT	p.T12T	ARPC1A_ENST00000432884.2_5'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	12					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCAATCACCTGTCATGCCT	0.343000													14	32					0	0	0.146539	0	0
ARNTL2	56938	broad.mit.edu	37	12	27533231	27533231	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:27533231G>A	ENST00000544915.1	+	4	495	c.276G>A	c.(274-276)ctG>ctA	p.L92L	ARNTL2_ENST00000542388.1_Silent_p.L41L|ARNTL2_ENST00000395901.2_Silent_p.L89L|ARNTL2_ENST00000261178.5_Silent_p.L78L|ARNTL2_ENST00000546179.1_Silent_p.L89L|ARNTL2_ENST00000266503.5_Silent_p.L126L|ARNTL2_ENST00000311001.5_Silent_p.L112L	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	126					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TGAATAACCTGATTGAAGAAC	0.418000													17	132					0	0	0.033300	0	0
MIOS	54468	broad.mit.edu	37	7	7628164	7628164	+	Silent	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:7628164A>G	ENST00000340080.4	+	8	2275	c.1854A>G	c.(1852-1854)gcA>gcG	p.A618A	MIOS_ENST00000405785.1_Silent_p.A618A	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	618										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAGAGTGGCATTTGCTTGTA	0.348000													27	36					0	0	0.116897	0	0
GABRG1	2565	broad.mit.edu	37	4	46067515	46067515	+	Missense_Mutation	SNP	G	G	T	rs144076673		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:46067515G>T	ENST00000295452.4	-	4	575	c.408C>A	c.(406-408)aaC>aaA	p.N136K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	136					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCATATTACTGTTAAGCATAA	0.328000													7	36					5.18039e-06	5.56412e-06	0.038147	1	0
SRCRB4D	136853	broad.mit.edu	37	7	76021316	76021316	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:76021316T>A	ENST00000275560.3	-	10	1723	c.1376A>T	c.(1375-1377)gAg>gTg	p.E459V	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	459						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CCGCGTGGTCTCAGAACCATC	0.592000													5	10					0	0	0.038147	0	0
SBF2	81846	broad.mit.edu	37	11	9878164	9878164	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:9878164A>T	ENST00000256190.8	-	19	2341	c.2204T>A	c.(2203-2205)cTa>cAa	p.L735Q	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	735					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATGTTGCACTAGCTCTTGCTG	0.483000													59	161					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179587395	179587395	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:179587395T>C	ENST00000589042.1	-	76	22455	c.22231A>G	c.(22231-22233)Aga>Gga	p.R7411G	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7094G|TTN_ENST00000342992.6_Missense_Mutation_p.R6167G|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7094	Ig-like 56.						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)			CCTTGAATTCTGAACACAGTC	0.323000													4	21					0	0	0.009096	0	0
SMG8	55181	broad.mit.edu	37	17	57292263	57292263	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:57292263C>G	ENST00000543872.2	+	5	3140	c.2876C>G	c.(2875-2877)gCa>gGa	p.A959G	CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.A78G|SMG8_ENST00000300917.5_Missense_Mutation_p.A959G			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	959					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTTCCTTATGCATATGTGACT	0.473000													32	48					0	0	0.144211	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603574	101603574	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:101603574A>T	ENST00000536262.2	-	1	611	c.53T>A	c.(52-54)tTc>tAc	p.F18Y		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	18					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGCCCGCGAACACCACGTA	0.692000													16	8					0	0	0.038395	0	0
TRIM16	10626	broad.mit.edu	37	17	15532098	15532098	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:15532098T>C	ENST00000578237.1	-	11	2381	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	TRIM16_ENST00000336708.7_Missense_Mutation_p.Y509C|TRIM16_ENST00000579219.1_3'UTR|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000577886.1_Missense_Mutation_p.Y293C|TRIM16_ENST00000416464.2_Missense_Mutation_p.Y379C					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CTCTACGCCATAGAAGGAAAG	0.517000													27	158					0	0	0.116897	0	0
TG	7038	broad.mit.edu	37	8	133881999	133881999	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:133881999C>A	ENST00000220616.4	+	3	242	c.202C>A	c.(202-204)Cgc>Agc	p.R68S	TG_ENST00000377869.1_Missense_Mutation_p.R68S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	68	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R68G(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAACGACGGCCGCTCCTGCTG	0.652000													61	40					1.41401e-22	1.72658e-22	0.139131	1	0
SPTBN2	6712	broad.mit.edu	37	11	66466927	66466927	+	Silent	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:66466927G>T	ENST00000533211.1	-	18	4057	c.3726C>A	c.(3724-3726)ggC>ggA	p.G1242G	SPTBN2_ENST00000309996.2_Silent_p.G1242G|SPTBN2_ENST00000529997.1_Silent_p.G1242G			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1242					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGTGGATGTTGCCTTCAGATA	0.557000													23	50					3.08376e-08	3.40682e-08	0.083992	1	0
CORIN	10699	broad.mit.edu	37	4	47667085	47667085	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:47667085C>T	ENST00000273857.4	-	11	1552	c.1553G>A	c.(1552-1554)tGt>tAt	p.C518Y	CORIN_ENST00000508498.1_Missense_Mutation_p.C379Y|CORIN_ENST00000505909.1_Missense_Mutation_p.C481Y|CORIN_ENST00000504584.1_Missense_Mutation_p.C481Y|CORIN_ENST00000502252.1_Missense_Mutation_p.C451Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	518	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTCACATCACATTTTGGTAC	0.443000													17	44					0	0	0.038395	0	0
SYCP2L	221711	broad.mit.edu	37	6	10907904	10907904	+	Missense_Mutation	SNP	G	G	C	rs143568506	by1000genomes	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:10907904G>C	ENST00000283141.6	+	10	1102	c.806G>C	c.(805-807)cGa>cCa	p.R269P	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.R110P	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	269						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATTAAGGATCGAGAATTTGAG	0.403000													35	53					0	0	0.069456	0	0
TRPM3	80036	broad.mit.edu	37	9	73399062	73399062	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:73399062C>T	ENST00000377110.2	-	7	1350	c.1107G>A	c.(1105-1107)tcG>tcA	p.S369S	TRPM3_ENST00000358082.3_Silent_p.S241S|TRPM3_ENST00000360823.2_Silent_p.S241S|TRPM3_ENST00000361823.5_Silent_p.S216S|TRPM3_ENST00000377106.1_Silent_p.S241S|TRPM3_ENST00000377101.1_Silent_p.S216S|TRPM3_ENST00000423814.3_Silent_p.S396S|TRPM3_ENST00000396292.4_Silent_p.S241S|TRPM3_ENST00000377105.1_Silent_p.S216S|TRPM3_ENST00000408909.2_Silent_p.S216S|TRPM3_ENST00000396280.5_Silent_p.S216S|TRPM3_ENST00000357533.2_Silent_p.S371S|TRPM3_ENST00000377111.2_Silent_p.S369S|TRPM3_ENST00000396283.1_Silent_p.S241S|TRPM3_ENST00000396285.1_Silent_p.S216S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	394						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCAGGATGTCCGATGCCCGTC	0.527000													33	19					0	0	0.045705	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332718	22332718	+	RNA	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:22332718T>C	ENST00000558896.1	+	0	525																											CCAGATCTACTTCCTCCACTT	0.468000													20	50					0	0	0.049695	0	0
EMILIN1	11117	broad.mit.edu	37	2	27303763	27303763	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:27303763C>T	ENST00000380320.4	+	3	953	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	152					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCCTGCCCGCCCCAACCT	0.667000											OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	10					0	0	0.014758	0	0
TP53	7157	broad.mit.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:7577144A>C	ENST00000420246.2	-	8	926	c.794T>G	c.(793-795)cTg>cGg	p.L265R	TP53_ENST00000445888.2_Missense_Mutation_p.L265R|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.L265R|TP53_ENST00000269305.4_Missense_Mutation_p.L265R|TP53_ENST00000455263.2_Missense_Mutation_p.L265R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (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.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(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)		GTTCCGTCCCAGTAGATTACC	0.522000		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)			15	8					0	0	0.132662	0	0
MYO18B	84700	broad.mit.edu	37	22	26317306	26317306	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:26317306T>C	ENST00000335473.7	+	34	5697	c.5447T>C	c.(5446-5448)cTc>cCc	p.L1816P	MYO18B_ENST00000407587.2_Missense_Mutation_p.L1817P|MYO18B_ENST00000536101.1_Missense_Mutation_p.L1816P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1816	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACGTGCAGCTCCTTCTGGGC	0.552000													6	1					0	0	0.029380	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744483	70744483	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:70744483C>T	ENST00000260126.3	-	2	1132	c.426G>A	c.(424-426)gcG>gcA	p.A142A	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.A142A|SLCO5A1_ENST00000530307.1_Silent_p.A142A	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	142						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGACCATTAACGCCTGGATGA	0.557000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	52					0	0	0.029380	0	0
PDE10A	10846	broad.mit.edu	37	6	165752811	165752811	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:165752811G>A	ENST00000366882.1	-	21	2258	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	PDE10A_ENST00000354448.4_Missense_Mutation_p.P702S|PDE10A_ENST00000539869.2_Missense_Mutation_p.P712S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	702					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCCATCATAGGAATAGGCTGT	0.353000													22	61					0	0	0.091800	0	0
RYR3	6263	broad.mit.edu	37	15	34016286	34016286	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:34016286A>T	ENST00000389232.4	+	45	6891	c.6821A>T	c.(6820-6822)gAg>gTg	p.E2274V	RYR3_ENST00000415757.3_Missense_Mutation_p.E2274V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2274	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACGATGAAGAGGAAGAAGAA	0.502000													16	10					0	0	0.132662	0	0
POFUT2	23275	broad.mit.edu	37	21	46685544	46685544	+	Silent	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr21:46685544A>G	ENST00000349485.5	-	9	1169	c.1143T>C	c.(1141-1143)ttT>ttC	p.F381F	POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	381					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		AGGTGCCAATAAAAAACCTGC	0.498000													12	13					0	0	0.080935	0	0
OAT	4942	broad.mit.edu	37	10	126100543	126100543	+	Splice_Site	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:126100543T>C	ENST00000368845.5	-	2	290	c.199_splice	c.e2+1	p.K66_splice	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	66					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	GAAACGTACCTTTTCCTCTCT	0.363000													3	92					0	0	0.009096	0	0
BDH2	56898	broad.mit.edu	37	4	104016422	104016422	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:104016422C>A	ENST00000296424.4	-	3	209	c.89G>T	c.(88-90)gGt>gTt	p.G30V		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	30					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GACTTTGGCACCTTCTCTTGC	0.403000													24	36					1.64293e-13	1.9058e-13	0.083992	1	0
RAD54L	8438	broad.mit.edu	37	1	46739822	46739822	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:46739822C>T	ENST00000371975.4	+	15	2297	c.1623C>T	c.(1621-1623)gtC>gtT	p.V541V	RAD54L_ENST00000488942.1_3'UTR|RAD54L_ENST00000442598.1_Silent_p.V541V	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	541	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACTTATACGTCCGCCTGGATG	0.423000								Direct reversal of damage;Homologous recombination					12	15					0	0	0.119110	0	0
OR7D4	125958	broad.mit.edu	37	19	9324922	9324922	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:9324922C>A	ENST00000308682.2	-	1	620	c.592G>T	c.(592-594)Gtc>Ttc	p.V198F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ACATACAAGACAATGTTATTG	0.522000													14	85					6.31663e-08	6.9453e-08	0.132662	1	0
UNC13A	23025	broad.mit.edu	37	19	17740103	17740103	+	Silent	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:17740103T>A	ENST00000428389.2	-	32	3962	c.3963A>T	c.(3961-3963)gcA>gcT	p.A1321A	UNC13A_ENST00000552293.1_Silent_p.A1233A|UNC13A_ENST00000551649.1_Silent_p.A1233A|UNC13A_ENST00000550896.1_Silent_p.A1231A|UNC13A_ENST00000519716.2_Silent_p.A1233A|UNC13A_ENST00000252773.7_Silent_p.A1233A			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1233					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGATGATGTCTGCATACTGGA	0.577000													8	15					0	0	0.058154	0	0
PRKCG	5582	broad.mit.edu	37	19	54396287	54396287	+	Silent	SNP	G	G	A	rs139506301		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:54396287G>A	ENST00000263431.3	+	8	1149	c.867G>A	c.(865-867)ccG>ccA	p.P289P	PRKCG_ENST00000540413.1_Silent_p.P289P|PRKCG_ENST00000542049.1_Silent_p.P176P|PRKCG_ENST00000536044.1_Intron	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	289					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACAATGTGCCGGTGGCCGATG	0.607000													4	23					0	0	0.009096	0	0
RBM26	64062	broad.mit.edu	37	13	79945213	79945213	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:79945213G>A	ENST00000438737.2	-	5	941	c.501C>T	c.(499-501)gaC>gaT	p.D167D	RBM26_ENST00000438724.1_Silent_p.D167D|RBM26_ENST00000267229.7_Silent_p.D167D			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	167	Arg-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TATTGTACCGGTCTCTGTATG	0.453000													49	32					0	0	0.139131	0	0
ZNF835	90485	broad.mit.edu	37	19	57175706	57175706	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:57175706G>T	ENST00000537055.2	-	2	1092	c.861C>A	c.(859-861)ttC>ttA	p.F287L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGATCTGCGCGAAGGCCTTGG	0.697000													3	2					0.115264	0.118324	0.115264	1	0
DLL1	28514	broad.mit.edu	37	6	170592411	170592411	+	Silent	SNP	G	G	A	rs140596420		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:170592411G>A	ENST00000366756.3	-	9	2289	c.1956C>T	c.(1954-1956)acC>acT	p.T652T		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	652					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)		CCCTGACGGCGGTGTCGTCAC	0.662000													8	35					0	0	0.038147	0	0
BMP5	653	broad.mit.edu	37	6	55620386	55620386	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:55620386T>A	ENST00000370830.3	-	7	2008	c.1310A>T	c.(1309-1311)aAt>aTt	p.N437I	BMP5_ENST00000446683.2_Missense_Mutation_p.N400I	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	437					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAAAATGACATTGGAGCTGTC	0.353000													28	35					0	0	0.050027	0	0
OR4A16	81327	broad.mit.edu	37	11	55111275	55111275	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:55111275A>G	ENST00000314721.2	+	1	649	c.599A>G	c.(598-600)aAt>aGt	p.N200S		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGGTTGCCAATGGTGGAATA	0.423000													58	60					0	0	0.139131	0	0
SYNE2	23224	broad.mit.edu	37	14	64679605	64679605	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:64679605A>G	ENST00000357395.3	+	106	19237	c.8093A>G	c.(8092-8094)aAg>aGg	p.K2698R	SYNE2_ENST00000554584.1_Missense_Mutation_p.K6272R|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.K2698R|SYNE2_ENST00000358025.3_Missense_Mutation_p.K6313R|SYNE2_ENST00000344113.4_Missense_Mutation_p.K6313R|SYNE2_ENST00000555002.1_Missense_Mutation_p.K2947R|SYNE2_ENST00000554805.1_Missense_Mutation_p.K96R|SYNE2_ENST00000555022.1_Missense_Mutation_p.K191R			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6313					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGATTCAGAAGAGCGAGCCC	0.522000													48	39					0	0	0.139131	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323433	79323433	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:79323433G>T	ENST00000428286.1	-	8	3880	c.2680C>A	c.(2680-2682)Ccc>Acc	p.P894T	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P1253T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1253					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAATGGCTGGGGATTTCAGGA	0.453000													22	11					2.21704e-12	2.55897e-12	0.076483	1	0
MTMR8	55613	broad.mit.edu	37	X	63445187	63445187	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:63445187C>G	ENST00000453546.1	-	10	1558	c.1469G>C	c.(1468-1470)aGt>aCt	p.S490T	ASB12_ENST00000362002.2_Missense_Mutation_p.S115T|ASB12_ENST00000396130.2_Missense_Mutation_p.S106T			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	306	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ATGGCCATGACTGACAGCAGT	0.527000													7	5					0	0	0.038147	0	0
RB1	5925	broad.mit.edu	37	13	48951101	48951101	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:48951101T>C	ENST00000267163.4	+	13	1401	c.1263T>C	c.(1261-1263)gaT>gaC	p.D421D		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	421	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGTGAAGGATATAGGATACA	0.358000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			28	16					0	0	0.125774	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137317	40137317	+	Silent	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:40137317G>T	ENST00000278198.2	-	2	2489	c.526C>A	c.(526-528)Cga>Aga	p.R176R	LRRC4C_ENST00000528697.1_Silent_p.R176R|LRRC4C_ENST00000530763.1_Silent_p.R176R|LRRC4C_ENST00000527150.1_Silent_p.R176R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	176					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGTCTAGTCGGCGCAAAGAA	0.423000													32	38					6.00712e-18	7.14694e-18	0.050027	1	0
COL4A6	1288	broad.mit.edu	37	X	107553986	107553986	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:107553986C>T	ENST00000334504.7	-	3	369	c.136G>A	c.(136-138)Gga>Aga	p.G46R	COL4A6_ENST00000372216.4_Missense_Mutation_p.G47R|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000538570.1_Missense_Mutation_p.G46R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G46R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G46R	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	47	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACTCTCGCTCCTTTCTCAGGA	0.383000									Alport syndrome with Diffuse Leiomyomatosis				41	7					0	0	0.104719	0	0
NEB	4703	broad.mit.edu	37	2	152398013	152398013	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:152398013G>T	ENST00000397345.3	-	136	20832	c.20630C>A	c.(20629-20631)cCt>cAt	p.P6877H	NEB_ENST00000604864.1_Missense_Mutation_p.P6877H|NEB_ENST00000409198.1_Missense_Mutation_p.P5176H|NEB_ENST00000427231.2_Missense_Mutation_p.P6877H|NEB_ENST00000172853.10_Missense_Mutation_p.P5176H|NEB_ENST00000603639.1_Missense_Mutation_p.P6877H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5176					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGAGTATCAGGAACTGAAGT	0.473000													19	81					7.21436e-19	8.71736e-19	0.049695	1	0
ITPR2	3709	broad.mit.edu	37	12	26812177	26812177	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:26812177A>C	ENST00000381340.3	-	16	2171	c.1755T>G	c.(1753-1755)atT>atG	p.I585M		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	585					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TATCATAGCCAATCTGGGACT	0.368000													11	139					0	0	0.080935	0	0
PRDM9	56979	broad.mit.edu	37	5	23526850	23526850	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:23526850C>T	ENST00000296682.3	+	11	1835	c.1653C>T	c.(1651-1653)ctC>ctT	p.L551L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	551					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGAAGCTCTACGTCTGCA	0.488000										HNSCC(3;0.000094)			34	57					0	0	0.064281	0	0
TRMT61B	55006	broad.mit.edu	37	2	29092865	29092865	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:29092865C>T	ENST00000306108.5	-	1	302	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	93							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						ACTCTTCCCGCAGCGTCGGCA	0.612000													15	36					0	0	0.132662	0	0
S1PR1	1901	broad.mit.edu	37	1	101705292	101705292	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:101705292C>T	ENST00000305352.6	+	2	1127	c.752C>T	c.(751-753)tCg>tTg	p.S251L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	251				KSL -> NV (in Ref. 1; AAA52336 and 2; AAC51905).	cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCTGAGAAGTCGCTGGCGCTG	0.582000													51	49					0	0	0.139131	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580523	15580523	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:15580523C>A	ENST00000292609.4	-	4	1690	c.1561G>T	c.(1561-1563)Ggc>Tgc	p.G521C	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.G521C			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	521					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TGGCGGTGGCCCAGCAGCGCG	0.746000													5	11					0.014758	0.0154228	0.014758	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	104512216	104512216	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:104512216A>C	ENST00000372582.1	+	5	1445	c.689A>C	c.(688-690)aAa>aCa	p.K230T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K230T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	230	Ig-like C2-type 2.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACTGAATTGAAAGTTACAGGT	0.333000													25	10					0	0	0.083992	0	0
TACC2	10579	broad.mit.edu	37	10	123954555	123954555	+	Splice_Site	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:123954555G>A	ENST00000369005.1	+	8	6175	c.5834_splice	c.e8-1	p.R1945_splice	TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Splice_Site_p.R91_splice|TACC2_ENST00000453444.2_Splice_Site_p.R1949_splice|TACC2_ENST00000358010.1_Splice_Site_p.R91_splice|TACC2_ENST00000515603.1_Splice_Site_p.R1900_splice|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000515273.1_Splice_Site_p.R1949_splice|TACC2_ENST00000260733.3_Splice_Site_p.M23_splice|TACC2_ENST00000369004.3_Splice_Site_p.M23_splice|TACC2_ENST00000360561.3_Splice_Site_p.M23_splice|TACC2_ENST00000368999.1_Splice_Site_p.M23_splice|TACC2_ENST00000334433.3_Splice_Site_p.R1945_splice	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1945						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)				CTCTCATCAGGAGTTCCGATT	0.617000													38	96					0	0	0.080422	0	0
ITGB4	3691	broad.mit.edu	37	17	73751849	73751849	+	Silent	SNP	A	A	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:73751849A>C	ENST00000200181.3	+	35	4813	c.4626A>C	c.(4624-4626)acA>acC	p.T1542T	ITGB4_ENST00000449880.2_Silent_p.T1525T|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Silent_p.T1472T|ITGB4_ENST00000450894.3_Silent_p.T1472T|ITGB4_ENST00000339591.3_Silent_p.T1525T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1542	Fibronectin type-III 3.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGGGCCCACATCTCTCAGAG	0.677000													10	44					0	0	0.080935	0	0
LAMP5	24141	broad.mit.edu	37	20	9498787	9498787	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:9498787T>C	ENST00000246070.2	+	5	1068	c.576T>C	c.(574-576)tcT>tcC	p.S192S	LAMP5_ENST00000427562.2_Silent_p.S148S	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	192						integral to membrane											CACTGGCCTCTAGTGATCCGC	0.512000													16	34					0	0	0.049695	0	0
PIK3R5	23533	broad.mit.edu	37	17	8812417	8812417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:8812417C>A	ENST00000447110.1	-	3	302	c.178G>T	c.(178-180)Gag>Tag	p.E60*	PIK3R5_ENST00000581552.1_Nonsense_Mutation_p.E60*|PIK3R5_ENST00000584803.1_Nonsense_Mutation_p.E60*	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	60	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGATCTGCTCAAGGAGGATA	0.592000													4	5					5.9392e-07	6.43876e-07	0.021553	1	0
ONECUT1	3175	broad.mit.edu	37	15	53081808	53081808	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:53081808C>T	ENST00000305901.5	-	1	401	c.274G>A	c.(274-276)Gag>Aag	p.E92K	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	92					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GGGGGAGTCTCGCAGGCCATG	0.677000													27	13					0	0	0.144211	0	0
PRDM9	56979	broad.mit.edu	37	5	23526849	23526849	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:23526849T>A	ENST00000296682.3	+	11	1834	c.1652T>A	c.(1651-1653)cTc>cAc	p.L551H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	551					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGAGAAGCTCTACGTCTGC	0.488000										HNSCC(3;0.000094)			32	58					0	0	0.054565	0	0
C9orf43	257169	broad.mit.edu	37	9	116191548	116191548	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:116191548C>T	ENST00000288462.4	+	14	1714	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	C9orf43_ENST00000374165.1_Missense_Mutation_p.S423F	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	423										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AAGAAGATCTCCTTTAACTTT	0.468000													19	67					0	0	0.043863	0	0
SLC6A3	6531	broad.mit.edu	37	5	1432743	1432743	+	Silent	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:1432743C>A	ENST00000270349.9	-	4	616	c.489G>T	c.(487-489)gcG>gcT	p.A163A	SLC6A3_ENST00000453492.2_Silent_p.A163A	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	163					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GATAGTGCAGCGCCCAGGCGA	0.587000													8	22					5.18039e-06	5.56412e-06	0.038147	1	0
CCNJL	79616	broad.mit.edu	37	5	159686758	159686758	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:159686758C>A	ENST00000393977.3	-	5	730	c.445G>T	c.(445-447)Gac>Tac	p.D149Y	CCNJL_ENST00000519673.1_Missense_Mutation_p.D101Y|CCNJL_ENST00000541762.1_Missense_Mutation_p.D100Y|CCNJL_ENST00000257536.7_Missense_Mutation_p.D101Y|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	149	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGACGTGGTCTTCCCGATCC	0.557000													29	24					1.88708e-17	2.23369e-17	0.134883	1	0
DTNA	1837	broad.mit.edu	37	18	32428278	32428278	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr18:32428278C>A	ENST00000283365.9	+	13	1464	c.1113C>A	c.(1111-1113)aaC>aaA	p.N371K	DTNA_ENST00000598774.1_Missense_Mutation_p.N371K|DTNA_ENST00000269191.6_Missense_Mutation_p.N428K|DTNA_ENST00000556414.3_Missense_Mutation_p.N80K|DTNA_ENST00000597674.1_Missense_Mutation_p.N50K|DTNA_ENST00000269192.7_Missense_Mutation_p.N137K|DTNA_ENST00000348997.5_Missense_Mutation_p.N425K|DTNA_ENST00000269190.7_Missense_Mutation_p.N429K|DTNA_ENST00000399121.5_Missense_Mutation_p.N368K|DTNA_ENST00000444659.1_Missense_Mutation_p.N428K|DTNA_ENST00000591182.1_Missense_Mutation_p.N76K|DTNA_ENST00000598334.1_Missense_Mutation_p.N368K|DTNA_ENST00000598142.1_Missense_Mutation_p.N371K|DTNA_ENST00000399113.3_Missense_Mutation_p.N428K|DTNA_ENST00000599844.1_Missense_Mutation_p.N50K|DTNA_ENST00000597599.1_Missense_Mutation_p.N368K|DTNA_ENST00000399097.3_Missense_Mutation_p.N76K|DTNA_ENST00000595022.1_Missense_Mutation_p.N368K|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Missense_Mutation_p.N50K	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	400					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGAGTTCAAACCGGCTTGATG	0.448000													19	14					4.35082e-09	4.82961e-09	0.055883	1	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			26	27					0	0	0.108266	0	0
LRP1B	53353	broad.mit.edu	37	2	141272305	141272305	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:141272305G>A	ENST00000389484.3	-	51	9157	c.8186C>T	c.(8185-8187)gCa>gTa	p.A2729V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2729	LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATTTTTGTGCGGAACAAGC	0.378000										TSP Lung(27;0.18)			11	37					0	0	0.093190	0	0
COL6A6	131873	broad.mit.edu	37	3	130293063	130293063	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:130293063G>T	ENST00000358511.6	+	7	3272	c.3241G>T	c.(3241-3243)Gct>Tct	p.A1081S	COL6A6_ENST00000453409.2_Missense_Mutation_p.A1081S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1081	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACACATCGGTGCTGCACTCAG	0.478000													12	60					9.31168e-06	9.90968e-06	0.105934	1	0
ATM	472	broad.mit.edu	37	11	108115564	108115564	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:108115564A>G	ENST00000278616.4	+	7	1097	c.712A>G	c.(712-714)Atc>Gtc	p.I238V	ATM_ENST00000452508.2_Missense_Mutation_p.I238V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	238					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGCTCTTACTATCTTCCTCAA	0.393000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			28	65					0	0	0.125774	0	0
ZNF829	374899	broad.mit.edu	37	19	37398928	37398928	+	Splice_Site	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:37398928T>C	ENST00000520965.1	-	5	533		c.e5-2		ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Splice_Site	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAAAGTCCTGTTCACAAGA	0.468000													9	33					0	0	0.080935	0	0
ALDH9A1	223	broad.mit.edu	37	1	165667675	165667675	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:165667675C>T	ENST00000354775.4	-	1	425	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	17					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	ACGCGGGCCCCGCCGCGGTAA	0.706000													14	24					0	0	0.132662	0	0
ITSN2	50618	broad.mit.edu	37	2	24521568	24521568	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:24521568T>C	ENST00000355123.4	-	13	1903	c.1460A>G	c.(1459-1461)aAa>aGa	p.K487R	ITSN2_ENST00000406921.3_Missense_Mutation_p.K487R|ITSN2_ENST00000361999.3_Missense_Mutation_p.K487R	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	487					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTTCTTTTTAGAGTTTAA	0.373000													30	74					0	0	0.134883	0	0
PCDH12	51294	broad.mit.edu	37	5	141336084	141336084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:141336084G>A	ENST00000231484.3	-	1	2543	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	445	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTGAGCTGTTTCTTGGCT	0.488000													32	70					0	0	0.064281	0	0
GDF5	8200	broad.mit.edu	37	20	34021968	34021968	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:34021968G>A	ENST00000374372.1	-	4	1748	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	GDF5OS_ENST00000374375.1_Silent_p.S4S|GDF5_ENST00000374369.3_Silent_p.D415D			P43026	GDF5_HUMAN	growth differentiation factor 5	415					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGATCCAGTCGTCCCAGCCCA	0.607000													128	58					0	0	0.139131	0	0
GRID1	2894	broad.mit.edu	37	10	87966319	87966319	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:87966319C>T	ENST00000327946.7	-	3	407	c.322G>A	c.(322-324)Gcc>Acc	p.A108T		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	108						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ATGTGCATGGCATCCGTGAGG	0.607000										Multiple Myeloma(13;0.14)			14	30					0	0	0.119110	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887579	12887579	+	Missense_Mutation	SNP	G	G	T	rs2486717	by1000genomes	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:12887579G>T	ENST00000535591.1	-	3	473	c.278C>A	c.(277-279)aCa>aAa	p.T93K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	93								p.T93K(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGCACTGGTGTTTTGTTCCT	0.493000													5	44					0.0293803	0.0305661	0.029380	1	0
AHCTF1	25909	broad.mit.edu	37	1	247051786	247051786	+	Silent	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:247051786A>G	ENST00000366508.1	-	18	2419	c.2283T>C	c.(2281-2283)gaT>gaC	p.D761D	AHCTF1_ENST00000391829.2_Silent_p.D726D|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.D735D			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	726	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAACCAGTCCATCAATCATCA	0.408000													32	26					0	0	0.059317	0	0
C11orf53	341032	broad.mit.edu	37	11	111155057	111155057	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:111155057G>A	ENST00000280325.4	+	3	411	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	88										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCCTACCGCCGCTCCTGCCAC	0.662000													7	19					0	0	0.069234	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530480	5530480	+	Silent	SNP	T	T	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:5530480T>G	ENST00000311659.4	-	2	456	c.309A>C	c.(307-309)ccA>ccC	p.P103P	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	103										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGGCAGCTGGGCACTCAT	0.597000													11	29					0	0	0.080935	0	0
IL16	3603	broad.mit.edu	37	15	81585276	81585276	+	Silent	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:81585276A>T	ENST00000394660.2	+	12	2160	c.1800A>T	c.(1798-1800)ccA>ccT	p.P600P	IL16_ENST00000302987.4_Silent_p.P600P	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	600					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCAAGCCTCCACCCAGAAAAT	0.547000													9	11					0	0	0.047766	0	0
CDH6	1004	broad.mit.edu	37	5	31294222	31294222	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:31294222G>T	ENST00000265071.2	+	3	647	c.382G>T	c.(382-384)Gct>Tct	p.A128S	CDH6_ENST00000514738.1_Missense_Mutation_p.A73S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	128	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CATCCTTCGAGCTCAAGCTAT	0.453000													24	117					3.7963e-18	4.53991e-18	0.083992	1	0
MYH4	4622	broad.mit.edu	37	17	10360801	10360801	+	Silent	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:10360801C>A	ENST00000255381.2	-	16	1943	c.1833G>T	c.(1831-1833)ctG>ctT	p.L611L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	611	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACTTCTGGTACAGCCCCACCA	0.507000													25	33					1.1804e-14	1.38309e-14	0.091800	1	0
ARL6	84100	broad.mit.edu	37	3	97503853	97503853	+	Silent	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:97503853T>A	ENST00000463745.1	+	5	786	c.309T>A	c.(307-309)gtT>gtA	p.V103V	ARL6_ENST00000335979.2_Silent_p.V103V|ARL6_ENST00000394206.1_Silent_p.V103V|ARL6_ENST00000496713.1_3'UTR	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	103					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TAAGAATGGTTGTGGCCAAAG	0.323000													28	24					0	0	0.045705	0	0
DIAPH1	1729	broad.mit.edu	37	5	140908052	140908052	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:140908052T>A	ENST00000253811.6	-	23	3259	c.3119A>T	c.(3118-3120)gAc>gTc	p.D1040V	DIAPH1_ENST00000398566.3_Missense_Mutation_p.D1031V|DIAPH1_ENST00000398557.4_Missense_Mutation_p.D1039V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.D1030V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.D1015V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.D1036V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.D1027V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.D982V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1039	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAAGCTCGTCTGGAAACTT	0.498000													22	17					0	0	0.069288	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967498	31967498	+	Splice_Site	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:31967498C>G	ENST00000357886.4	-	9	1072		c.e9-1		CDK5RAP1_ENST00000544843.1_Splice_Site|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000452723.3_Splice_Site|CDK5RAP1_ENST00000346416.2_Splice_Site|CDK5RAP1_ENST00000473997.1_Splice_Site			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1						brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTTTCAGCCCCTAAACATGGG	0.343000													7	51					0	0	0.038147	0	0
C10orf12	26148	broad.mit.edu	37	10	98743204	98743204	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:98743204A>G	ENST00000286067.2	+	1	2164	c.2057A>G	c.(2056-2058)aAc>aGc	p.N686S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	686										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAGGTAGACAACGAAAACACC	0.502000													19	20					0	0	0.062417	0	0
RPUSD1	113000	broad.mit.edu	37	16	836037	836037	+	Silent	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:836037T>A	ENST00000561734.1	-	5	1095	c.852A>T	c.(850-852)ccA>ccT	p.P284P	RPUSD1_ENST00000007264.2_Silent_p.P284P|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Silent_p.P155P			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	284	Pro-rich.				pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGGTTGGGGGTGGAGGAGGCC	0.731000													3	6					0	0	0.115264	0	0
MYH8	4626	broad.mit.edu	37	17	10304048	10304048	+	Silent	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:10304048G>T	ENST00000403437.2	-	27	3488	c.3394C>A	c.(3394-3396)Cga>Aga	p.R1132R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1132					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			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						GCTTTGGCTCGGGACGCCCTC	0.557000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				6	51					0.00198382	0.00209203	0.029380	1	0
BSX	390259	broad.mit.edu	37	11	122848579	122848579	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:122848579G>A	ENST00000343035.2	-	3	528	c.480C>T	c.(478-480)aaC>aaT	p.N160N		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	160										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TCATCCGCCGGTTCTGGAACC	0.527000													17	26					0	0	0.146539	0	0
FOLH1	2346	broad.mit.edu	37	11	49207301	49207301	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:49207301G>A	ENST00000340334.7	-	7	1069	c.701C>T	c.(700-702)cCt>cTt	p.P234L	FOLH1_ENST00000356696.3_Missense_Mutation_p.P249L|FOLH1_ENST00000256999.2_Missense_Mutation_p.P249L|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.P234L	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	249					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ACCACCTCCAGGAAGATTCCA	0.512000													12	35					0	0	0.093190	0	0
ME3	10873	broad.mit.edu	37	11	86198421	86198421	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:86198421T>G	ENST00000543262.1	-	7	1093	c.767A>C	c.(766-768)tAc>tCc	p.Y256S	ME3_ENST00000323418.6_Missense_Mutation_p.Y194S|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.Y256S|ME3_ENST00000525957.1_5'UTR|ME3_ENST00000359636.2_Missense_Mutation_p.Y256S	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	256					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CAAGTCATCGTATGCCTTCCC	0.527000													11	39					0	0	0.069234	0	0
PTPN23	25930	broad.mit.edu	37	3	47450995	47450995	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:47450995C>T	ENST00000265562.4	+	18	1963	c.1886C>T	c.(1885-1887)gCa>gTa	p.A629V	PTPN23_ENST00000431726.1_Missense_Mutation_p.A503V	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	629					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCCTCTGTGCACTGACAGAG	0.597000													20	3					0	0	0.055883	0	0
C1orf173	127254	broad.mit.edu	37	1	75072415	75072415	+	Silent	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:75072415T>A	ENST00000326665.5	-	10	1577	c.1359A>T	c.(1357-1359)tcA>tcT	p.S453S	C1orf173_ENST00000420661.2_Silent_p.S256S|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	453	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAAATTTGGCTGAAACAGAGG	0.413000													93	48					0	0	0.139131	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87163762	87163762	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:87163762A>G	ENST00000285393.3	+	7	1026	c.884A>G	c.(883-885)gAg>gGg	p.E295G	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	295			E -> K (in dbSNP:rs4263741).		ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GTGTTTTACGAGCGTGAGGTA	0.328000													15	51					0	0	0.043863	0	0
AKT3	10000	broad.mit.edu	37	1	243778440	243778440	+	Silent	SNP	A	A	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:243778440A>C	ENST00000366539.1	-	7	785	c.585T>G	c.(583-585)acT>acG	p.T195T	AKT3_ENST00000336199.5_Silent_p.T195T|AKT3_ENST00000263826.5_Silent_p.T195T|AKT3_ENST00000492957.1_5'UTR|AKT3_ENST00000366540.1_Silent_p.T195T			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	195	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTCTGCTTTCAGTTAGAGTGT	0.294000													19	43					0	0	0.076483	0	0
DPYD	1806	broad.mit.edu	37	1	98164954	98164954	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:98164954G>A	ENST00000370192.3	-	6	733	c.633C>T	c.(631-633)taC>taT	p.Y211Y	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	211					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGATGTCAGAGTACCCCAATC	0.383000													72	40					0	0	0.139131	0	0
FBXO30	84085	broad.mit.edu	37	6	146127529	146127529	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:146127529G>A	ENST00000237281.4	-	2	179	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	5							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GAATGCTGCAGCTCCTCCTCC	0.413000													10	24					0	0	0.058154	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41753426	41753426	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:41753426G>T	ENST00000352645.4	+	23	3184	c.2927G>T	c.(2926-2928)gGg>gTg	p.G976V	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G976V	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	992					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCCACCACTGGGGAGTAGGGC	0.662000													40	75					1.4709e-25	1.81515e-25	0.139131	1	0
KIRREL	55243	broad.mit.edu	37	1	158064599	158064599	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:158064599C>T	ENST00000368172.1	+	11	1417	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	KIRREL_ENST00000368173.3_Missense_Mutation_p.R671W|KIRREL_ENST00000360089.4_Missense_Mutation_p.R491W|KIRREL_ENST00000359209.6_Missense_Mutation_p.R655W|KIRREL_ENST00000392272.2_Missense_Mutation_p.R552W|KIRREL_ENST00000416935.2_Missense_Mutation_p.R555W			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	655	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CACCTATAGCCGGGGCCCTGC	0.657000													13	29					0	0	0.093190	0	0
PON1	5444	broad.mit.edu	37	7	94931578	94931578	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:94931578C>G	ENST00000222381.3	-	8	1079	c.848G>C	c.(847-849)gGa>gCa	p.G283A	PON1_ENST00000542556.1_Missense_Mutation_p.G283A	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	283					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GGGATGGCATCCAACCCAAAG	0.388000													13	65					0	0	0.132662	0	0
CDK8	1024	broad.mit.edu	37	13	26967636	26967636	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr13:26967636G>T	ENST00000381527.3	+	7	1282	c.779G>T	c.(778-780)gGa>gTa	p.G260V	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	260	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AATGTAATGGGATTTCCTGCA	0.353000													69	52					5.94106e-25	7.29273e-25	0.139131	1	0
KREMEN1	83999	broad.mit.edu	37	22	29490261	29490261	+	Missense_Mutation	SNP	A	A	G	rs35199515		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:29490261A>G	ENST00000400338.2	+	2	166	c.113A>G	c.(112-114)aAt>aGt	p.N38S	KREMEN1_ENST00000407188.1_Missense_Mutation_p.N36S|KREMEN1_ENST00000327813.5_Missense_Mutation_p.N38S|KREMEN1_ENST00000400335.4_Missense_Mutation_p.N38S			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	36	Kringle.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						TTCACAGCCAATGGTGCGGAT	0.428000													36	56					0	0	0.064281	0	0
TBPL2	387332	broad.mit.edu	37	14	55903569	55903569	+	Silent	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:55903569A>G	ENST00000247219.5	-	2	388	c.318T>C	c.(316-318)gtT>gtC	p.V106V		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	106					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TTTCCTGGGTAACTTCATCTG	0.423000													30	33					0	0	0.116897	0	0
OR13F1	138805	broad.mit.edu	37	9	107267404	107267404	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:107267404T>C	ENST00000334726.2	+	1	950	c.861T>C	c.(859-861)ccT>ccC	p.P287P		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTTGAATCCTATCATCTATA	0.418000													41	6					0	0	0.098360	0	0
NCK2	8440	broad.mit.edu	37	2	106497977	106497977	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:106497977C>T	ENST00000233154.4	+	4	862	c.420C>T	c.(418-420)gtC>gtT	p.V140V	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Silent_p.V140V	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	140	SH3 2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GCGTCACCGTCATGGAGAAGT	0.632000													39	49					0	0	0.104719	0	0
ZNF71	58491	broad.mit.edu	37	19	57133988	57133988	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:57133988A>T	ENST00000328070.6	+	3	1567	c.1333A>T	c.(1333-1335)Aag>Tag	p.K445*		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	445						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)		CCAGTGCGGGAAGTCCTTCAT	0.647000													17	24					0	0	0.043863	0	0
SIAH2	6478	broad.mit.edu	37	3	150460290	150460290	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:150460290A>T	ENST00000312960.3	-	2	1140	c.613T>A	c.(613-615)Ttt>Att	p.F205I		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	205	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTAGCTAGAAAGACGATGTCT	0.522000													15	61					0	0	0.132662	0	0
ELF5	2001	broad.mit.edu	37	11	34502384	34502384	+	Silent	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:34502384T>A	ENST00000312319.2	-	6	865	c.636A>T	c.(634-636)gcA>gcT	p.A212A	ELF5_ENST00000257832.2_Silent_p.A202A|ELF5_ENST00000429939.2_Silent_p.A107A	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	212					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CCCACATCTTTGCCAGGGCTT	0.418000													52	64					0	0	0.139131	0	0
MAP3K5	4217	broad.mit.edu	37	6	136977517	136977517	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:136977517T>C	ENST00000359015.4	-	10	1968	c.1608A>G	c.(1606-1608)caA>caG	p.Q536Q	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	536					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCACAAGTTCTTGCTTGGCCA	0.393000													45	94					0	0	0.139131	0	0
NGFR	4804	broad.mit.edu	37	17	47590198	47590198	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:47590198G>A	ENST00000172229.3	+	6	1236	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.E277K	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	371	Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CTACCAGCCCGAGCACATAGA	0.697000													31	64					0	0	0.054565	0	0
MAP4K1	11184	broad.mit.edu	37	19	39103266	39103266	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:39103266T>A	ENST00000591517.1	-	9	678	c.650A>T	c.(649-651)gAt>gTt	p.D217V	MAP4K1_ENST00000589130.1_Missense_Mutation_p.D213V|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Missense_Mutation_p.D217V|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D217V	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	217	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGGTGCACATCAAAGAGCGG	0.627000													22	31					0	0	0.050027	0	0
VPS13B	157680	broad.mit.edu	37	8	100789144	100789144	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:100789144G>A	ENST00000358544.2	+	41	7575	c.7464G>A	c.(7462-7464)ctG>ctA	p.L2488L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L2463L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2488					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGCTCACCTGGAATTCCATC	0.438000													84	226					0	0	0.139131	0	0
KCNH4	23415	broad.mit.edu	37	17	40322268	40322268	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:40322268G>A	ENST00000264661.3	-	8	1579	c.1247C>T	c.(1246-1248)tCg>tTg	p.S416L	KCNH4_ENST00000607371.1_Missense_Mutation_p.S416L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	416					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCCGCCCACCGAGCCATTGAC	0.632000													9	8					0	0	0.069234	0	0
RNF130	55819	broad.mit.edu	37	5	179440200	179440200	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:179440200A>T	ENST00000522208.2	-	3	572	c.554T>A	c.(553-555)aTg>aAg	p.M185K	RNF130_ENST00000261947.4_Missense_Mutation_p.M185K|RNF130_ENST00000521389.1_Missense_Mutation_p.M185K			Q86XS8	GOLI_HUMAN	ring finger protein 130	185					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCGGTGGCATTCGAGTTCC	0.373000													26	74					0	0	0.099896	0	0
CADPS2	93664	broad.mit.edu	37	7	122091450	122091450	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:122091450C>G	ENST00000334010.7	-	14	2690	c.2269G>C	c.(2269-2271)Gaa>Caa	p.E757Q	CADPS2_ENST00000449022.2_Missense_Mutation_p.E756Q|CADPS2_ENST00000313070.7_Missense_Mutation_p.E753Q|CADPS2_ENST00000412584.2_Missense_Mutation_p.E753Q	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	756	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATCTGATTTTCTAAAAGGGAA	0.299000													5	30					0	0	0.014758	0	0
RBMS1	5937	broad.mit.edu	37	2	161223852	161223852	+	Silent	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:161223852G>T	ENST00000348849.3	-	2	556	c.126C>A	c.(124-126)acC>acA	p.T42T	RBMS1_ENST00000409289.2_Silent_p.T9T|RBMS1_ENST00000409972.1_Silent_p.T9T|RBMS1_ENST00000409075.1_Silent_p.T9T|RBMS1_ENST00000392753.3_Silent_p.T42T|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	42					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								tattactgctggtggtgctgG	0.552000													14	44					1.05317e-09	1.19188e-09	0.119110	1	0
TRIM24	8805	broad.mit.edu	37	7	138252382	138252382	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:138252382C>A	ENST00000343526.4	+	10	1902	c.1687C>A	c.(1687-1689)Caa>Aaa	p.Q563K	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.Q529K			O15164	TIF1A_HUMAN	tripartite motif containing 24	563					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTCTTGGCTCAACAAGCCAT	0.388000													10	44					5.61819e-17	6.61634e-17	0.108266	1	0
PRPF40B	25766	broad.mit.edu	37	12	50027756	50027756	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:50027756C>T	ENST00000261897.1	+	9	1160	c.609C>T	c.(607-609)acC>acT	p.T203T	PRPF40B_ENST00000548825.2_Silent_p.T231T|PRPF40B_ENST00000380281.1_Silent_p.T209T			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	209					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CTGGCCCCACCCCAGTGCCCA	0.642000													51	20					0	0	0.139131	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74722212	74722212	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:74722212G>C	ENST00000380494.5	-	5	1117	c.824C>G	c.(823-825)tCc>tGc	p.S275C	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.S147C|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.S147C	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	147					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TGAAGAGGTGGATGTTGCAGA	0.398000													9	31					0	0	0.069234	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812926	31812926	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr21:31812926C>T	ENST00000334067.3	+	1	330	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	94						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TACATAAGATCCCTTGGATGT	0.502000													12	86					0	0	0.105934	0	0
LOC653786	653786	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522000													4	29					0	0	0.038147	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760576	176760576	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:176760576C>A	ENST00000367662.3	+	19	6142	c.4978C>A	c.(4978-4980)Ctg>Atg	p.L1660M		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1660	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L1660M(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCTCAGAGCTGAATTCTGT	0.438000													25	27					1.42536e-11	1.62898e-11	0.099896	1	0
ZBTB46	140685	broad.mit.edu	37	20	62378483	62378483	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:62378483G>C	ENST00000245663.4	-	5	1720	c.1570C>G	c.(1570-1572)Cca>Gca	p.P524A	ZBTB46_ENST00000302995.2_Missense_Mutation_p.P524A|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P524A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGCGCCTCTGGAGAGCCCTCG	0.736000													5	13					0	0	0.029380	0	0
SLC9A4	389015	broad.mit.edu	37	2	103125363	103125363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:103125363G>T	ENST00000295269.4	+	6	1916	c.1459G>T	c.(1459-1461)Gaa>Taa	p.E487*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	487					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAATAAAAAAGAATCCATCAA	0.353000													18	57					3.99206e-14	4.65406e-14	0.043863	1	0
COL15A1	1306	broad.mit.edu	37	9	101816858	101816858	+	Splice_Site	SNP	G	G	T	rs140851301	by1000genomes	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:101816858G>T	ENST00000375001.3	+	32	3374	c.2950_splice	c.e32-1	p.G984_splice		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	984	Triple-helical region 6 (COL6).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTGGTGGCAGGTGTTAAAGGA	0.433000													21	8					3.62473e-10	4.12224e-10	0.062417	1	0
OTUB2	78990	broad.mit.edu	37	14	94510931	94510931	+	Splice_Site	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:94510931G>A	ENST00000203664.5	+	5	512		c.e5-1			NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2						cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		GGCGGGCGCAGTTTTACAGTG	0.622000													12	26					0	0	0.093190	0	0
FMO3	2328	broad.mit.edu	37	1	171085379	171085379	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:171085379G>A	ENST00000367755.4	+	8	1326	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	FMO3_ENST00000392085.2_Missense_Mutation_p.M405I|FMO3_ENST00000538429.1_Missense_Mutation_p.M342I|FMO3_ENST00000542847.1_Missense_Mutation_p.M385I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	405				PSMEDM -> GPFYGKTL (in Ref. 1; AAA86284).	xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGAAGACATGATGAATGATA	0.358000													31	53					0	0	0.064281	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215095	140215095	+	Missense_Mutation	SNP	A	A	T	rs145294768		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:140215095A>T	ENST00000525929.1	+	1	1127	c.1127A>T	c.(1126-1128)gAc>gTc	p.D376V	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D376V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGTTTGACCGAGATTTT	0.502000													24	61					0	0	0.069288	0	0
RASSF9	9182	broad.mit.edu	37	12	86198764	86198764	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:86198764C>G	ENST00000361228.3	-	2	1392	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	342					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTTAATCTCTTTCTGGATG	0.373000													104	68					0	0	0.139131	0	0
LRRC7	57554	broad.mit.edu	37	1	70225873	70225873	+	Splice_Site	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:70225873G>T	ENST00000310961.5	+	4	419		c.e4-1		LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Splice_Site|LRRC7_ENST00000035383.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGTTTCTCTAGTGCAGTGCCT	0.403000													12	17					1.08611e-07	1.18857e-07	0.080935	1	0
TTN	7273	broad.mit.edu	37	2	179462324	179462324	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:179462324G>T	ENST00000589042.1	-	294	57709	c.57485C>A	c.(57484-57486)tCt>tAt	p.S19162Y	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10222Y|TTN_ENST00000591111.1_Missense_Mutation_p.S17521Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16594Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10289Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S10097Y|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17521	Ig-like 108.						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)			GGCAAGAAGAGAATAGACGCC	0.398000													12	56					0.0809354	0.0838259	0.080935	1	0
PCDHB6	56130	broad.mit.edu	37	5	140530019	140530019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:140530019C>T	ENST00000231136.1	+	1	181	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		61	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGCTTCGCGGGGCGCTCG	0.507000													24	51					0	0	0.108266	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47583599	47583599	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:47583599T>C	ENST00000334194.3	+	12	1514	c.1511T>C	c.(1510-1512)gTt>gCt	p.V504A	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	504						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GCAAAAAAAGTTTGCTAATTT	0.378000													13	12					0	0	0.119110	0	0
IQGAP2	10788	broad.mit.edu	37	5	75886317	75886317	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:75886317C>T	ENST00000274364.6	+	8	1022	c.725C>T	c.(724-726)gCg>gTg	p.A242V	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	242					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AACCCAAATGCGGTTTTAACT	0.378000													28	25					0	0	0.116897	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117351772	117351772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:117351772A>T	ENST00000160373.3	-	23	4902	c.4811T>A	c.(4810-4812)tTg>tAg	p.L1604*	CFTR_ENST00000429014.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1604										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGAAACACCCAACTCAGTCTT	0.423000													60	54					0	0	0.139131	0	0
ZER1	10444	broad.mit.edu	37	9	131515598	131515598	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr9:131515598C>T	ENST00000291900.2	-	4	997	c.591G>A	c.(589-591)ccG>ccA	p.P197P	ZER1_ENST00000494461.1_5'UTR	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	197					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GGGAGTTAAGCGGCCGCAGCA	0.602000													8	5					0	0	0.047766	0	0
ABCC8	6833	broad.mit.edu	37	11	17496473	17496473	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:17496473C>T	ENST00000302539.4	-	2	375	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	ABCC8_ENST00000389817.3_Missense_Mutation_p.V84I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	84					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACACCAGGACGAAGAGCAGC	0.547000													11	20					0	0	0.069234	0	0
XIST	7503	broad.mit.edu	37	X	73066964	73066964	+	RNA	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:73066964A>G	ENST00000429829.1	-	0	5624					NR_001564.2																						GGATGTAAATACAGTGGGTGG	0.388000													9	42					0	0	0.080935	0	0
RFFL	117584	broad.mit.edu	37	17	33338994	33338994	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:33338994C>T	ENST00000315249.7	-	7	1307	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.R271Q|RFFL_ENST00000584655.1_Missense_Mutation_p.R326Q|RFFL_ENST00000378516.2_Missense_Mutation_p.R354Q|RFFL_ENST00000413582.2_Missense_Mutation_p.R354Q|RFFL_ENST00000394597.2_Missense_Mutation_p.R362Q|RFFL_ENST00000447669.2_Missense_Mutation_p.R362Q|RFFL_ENST00000415395.2_Missense_Mutation_p.R362Q|RFFL_ENST00000268850.7_Missense_Mutation_p.R326Q			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	362					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTCAGGACCGGAAGACATG	0.547000													8	24					0	0	0.058154	0	0
IFT172	26160	broad.mit.edu	37	2	27706461	27706461	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:27706461C>T	ENST00000260570.3	-	6	571	c.468G>A	c.(466-468)gtG>gtA	p.V156V	IFT172_ENST00000416524.2_Silent_p.V135V|IFT172_ENST00000359466.6_Silent_p.V156V	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	156					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTGTCAGGGACACCACGTAAG	0.403000													13	41					0	0	0.146539	0	0
TTC21B	79809	broad.mit.edu	37	2	166770094	166770094	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:166770094T>C	ENST00000243344.7	-	16	2338	c.2201A>G	c.(2200-2202)aAt>aGt	p.N734S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	734						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTCTAGAATATTCATGTATGC	0.313000													16	51					0	0	0.146539	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76967771	76967771	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:76967771C>T	ENST00000262776.3	-	6	1953	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	549					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTGTTGGTGTCCAGGGCACTG	0.607000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	56					0	0	0.069288	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14961768	14961768	+	Silent	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:14961768C>A	ENST00000453695.2	-	13	1209	c.765G>T	c.(763-765)ctG>ctT	p.L255L	DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378249.1_Silent_p.L260L|DCLRE1C_ENST00000396817.2_Silent_p.L255L|DCLRE1C_ENST00000378289.4_Silent_p.L375L|DCLRE1C_ENST00000378278.2_Silent_p.L375L|DCLRE1C_ENST00000378246.2_Silent_p.L260L|DCLRE1C_ENST00000378255.1_Silent_p.L255L|DCLRE1C_ENST00000378258.1_Silent_p.L255L|DCLRE1C_ENST00000378242.1_Silent_p.L28L|DCLRE1C_ENST00000357717.2_Silent_p.L260L|DCLRE1C_ENST00000378254.1_Silent_p.L255L	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	375					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TAGCTCTCTTCAGTTTTCCCA	0.458000								Non-homologous end-joining					38	81					3.61848e-18	4.34967e-18	0.098360	1	0
UROC1	131669	broad.mit.edu	37	3	126219567	126219567	+	Silent	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:126219567A>T	ENST00000290868.2	-	11	1169	c.1116T>A	c.(1114-1116)ccT>ccA	p.P372P	UROC1_ENST00000383579.3_Silent_p.P432P	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	372					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGAACACAGCAGGGTTGGAGG	0.597000													29	113					0	0	0.144211	0	0
USH2A	7399	broad.mit.edu	37	1	215848787	215848787	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:215848787C>T	ENST00000366943.2	-	63	12852	c.12466G>A	c.(12466-12468)Gac>Aac	p.D4156N	USH2A_ENST00000307340.3_Missense_Mutation_p.D4156N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4156	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCTGAGAGTCTGGAGGGGCT	0.542000										HNSCC(13;0.011)			3	62					0	0	0.115264	0	0
OLIG3	167826	broad.mit.edu	37	6	137814642	137814642	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:137814642C>T	ENST00000367734.2	-	1	889	c.666G>A	c.(664-666)ccG>ccA	p.P222P		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GCAGCGCGGGCGGCGTGGAGG	0.711000													3	2					0	0	0.115264	0	0
CIAO1	9391	broad.mit.edu	37	2	96933414	96933414	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:96933414G>A	ENST00000488633.1	+	3	559	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	114					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						AGTGGCTTGGGCCCCATCTGG	0.537000													4	14					0	0	0.021553	0	0
ZNF180	7733	broad.mit.edu	37	19	44981291	44981291	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:44981291T>A	ENST00000221327.4	-	5	1688	c.1407A>T	c.(1405-1407)caA>caT	p.Q469H	ZNF180_ENST00000592529.1_Missense_Mutation_p.Q442H|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q444H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ATTTCCCACATTGATTACATT	0.368000													21	62					0	0	0.055883	0	0
MIEF1	54471	broad.mit.edu	37	22	39908272	39908272	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:39908272A>T	ENST00000325301.2	+	5	782	c.358A>T	c.(358-360)Agg>Tgg	p.R120W	SMCR7L_ENST00000402881.1_Missense_Mutation_p.R120W|SMCR7L_ENST00000404569.1_Missense_Mutation_p.R120W	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		120						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					GCCAGTGGCCAGGAAGGGCCA	0.597000													24	32					0	0	0.083992	0	0
SLC44A2	57153	broad.mit.edu	37	19	10738659	10738659	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:10738659G>A	ENST00000586078.1	+	4	333	c.224G>A	c.(223-225)gGg>gAg	p.G75E	SLC44A2_ENST00000335757.5_Missense_Mutation_p.G75E|SLC44A2_ENST00000407327.4_Missense_Mutation_p.G73E	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	75					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GAGTTCTGCGGGCAGAAGGGC	0.572000													12	12					0	0	0.093190	0	0
ZNF420	147923	broad.mit.edu	37	19	37618477	37618477	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:37618477A>G	ENST00000337995.3	+	5	799	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	ZNF420_ENST00000304239.7_Missense_Mutation_p.Y195C|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCCTATGCATGTAAG	0.388000													13	37					0	0	0.119110	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215144	140215144	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:140215144C>T	ENST00000525929.1	+	1	1176	c.1176C>T	c.(1174-1176)cgC>cgT	p.R392R	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.R392R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCCCCGCGTTCCCTTCA	0.537000													27	88					0	0	0.091800	0	0
ZNF93	81931	broad.mit.edu	37	19	20044894	20044894	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:20044894C>T	ENST00000343769.5	+	4	1158	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	377						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGTGGCAAAGCCTTCATTTGG	0.393000													26	42					0	0	0.099896	0	0
PRTG	283659	broad.mit.edu	37	15	55965703	55965703	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:55965703G>A	ENST00000389286.4	-	10	1765	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	573	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTACTCATGCGTGGTCCCCGG	0.537000													39	20					0	0	0.098360	0	0
PHKA1	5255	broad.mit.edu	37	X	71887231	71887231	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:71887231G>A	ENST00000373545.3	-	7	1149	c.711C>T	c.(709-711)caC>caT	p.H237H	PHKA1_ENST00000541944.1_Silent_p.H237H|PHKA1_ENST00000373539.3_Silent_p.H237H|PHKA1_ENST00000339490.3_Silent_p.H237H|PHKA1_ENST00000373542.4_Silent_p.H237H			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	237					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTACCTGGCAGTGCTGTACTT	0.423000													18	7					0	0	0.049695	0	0
AMPH	273	broad.mit.edu	37	7	38530702	38530702	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:38530702T>C	ENST00000356264.2	-	5	559	c.344A>G	c.(343-345)gAt>gGt	p.D115G	AMPH_ENST00000325590.5_Missense_Mutation_p.D115G|AMPH_ENST00000428293.2_Missense_Mutation_p.D115G	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	115	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						CAAGGACCCATCCACGAGTTT	0.398000													42	174					0	0	0.139131	0	0
AXIN2	8313	broad.mit.edu	37	17	63532996	63532996	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:63532996T>A	ENST00000307078.5	-	7	2211	c.1898A>T	c.(1897-1899)aAg>aTg	p.K633M	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	633				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCTATGGGGCTTGGGCTTGCT	0.652000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				37	107					0	0	0.111260	0	0
DNAAF2	55172	broad.mit.edu	37	14	50101425	50101425	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:50101425G>T	ENST00000298292.8	-	1	523	c.443C>A	c.(442-444)cCa>cAa	p.P148Q	DNAAF2_ENST00000406043.3_Missense_Mutation_p.P148Q	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	148					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						AAGCGCGTCTGGATGGAAGAC	0.706000													8	20					2.52707e-12	2.90238e-12	0.058154	1	0
KCNV1	27012	broad.mit.edu	37	8	110984585	110984585	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:110984585C>A	ENST00000524391.1	-	3	1925	c.893G>T	c.(892-894)aGc>aTc	p.S298I	KCNV1_ENST00000297404.1_Missense_Mutation_p.S298I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	298						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CGTGGTCTGGCTCCCACTTAG	0.562000													14	48					2.32078e-09	2.6137e-09	0.132662	1	0
EXOC2	55770	broad.mit.edu	37	6	556005	556005	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:556005T>C	ENST00000230449.4	-	19	2076	c.1941A>G	c.(1939-1941)caA>caG	p.Q647Q	EXOC2_ENST00000448181.3_Silent_p.Q242Q	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	647					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTTAGGTTGTTGGAAGACCT	0.338000													34	40					0	0	0.080422	0	0
RP1	6101	broad.mit.edu	37	8	55541985	55541985	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:55541985C>A	ENST00000220676.1	+	4	5691	c.5543C>A	c.(5542-5544)gCa>gAa	p.A1848E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1848					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAGAATAGCAAATCATCAT	0.413000													11	78					2.80697e-09	3.13086e-09	0.080935	1	0
CLCA4	22802	broad.mit.edu	37	1	87043754	87043754	+	Splice_Site	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:87043754C>T	ENST00000370563.3	+	12	2163	c.2122_splice	c.e12+1	p.N707_splice	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	707						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGGTAGTGAACGGTGAGTAAC	0.388000													3	7					0	0	0.009096	0	0
RS1	6247	broad.mit.edu	37	X	18660166	18660166	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:18660166G>A	ENST00000379984.3	-	6	673	c.633C>T	c.(631-633)gcC>gcT	p.A211A	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	211	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCATCCGGATGGCAATGCGGA	0.677000													34	10					0	0	0.064281	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673192	3673192	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr20:3673192G>A	ENST00000344754.4	-	15	4005	c.4006C>T	c.(4006-4008)Cgt>Tgt	p.R1336C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1336C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1336	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGCAGGACGGGAGCTGCGG	0.682000													5	14					0	0	0.014758	0	0
HP	3240	broad.mit.edu	37	16	72094648	72094648	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:72094648C>T	ENST00000355906.5	+	7	1138	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A	HP_ENST00000570083.1_Silent_p.A301A|HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Silent_p.A301A|HP_ENST00000398131.2_Silent_p.A301A|HP_ENST00000562526.1_3'UTR	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	360	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GTGCCTTTGCCGTTCACGACC	0.522000													20	69					0	0	0.069288	0	0
LAMA4	3910	broad.mit.edu	37	6	112513043	112513043	+	Silent	SNP	G	G	A	rs140249081		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:112513043G>A	ENST00000230538.7	-	6	910	c.513C>T	c.(511-513)ccC>ccT	p.P171P	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Silent_p.P171P|LAMA4_ENST00000522006.1_Silent_p.P171P|LAMA4_ENST00000389463.4_Silent_p.P171P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	171	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.P171P(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATAGTAACCGGGAGCACATC	0.378000													6	22					0	0	0.021553	0	0
ERBB4	2066	broad.mit.edu	37	2	212251875	212251875	+	Splice_Site	SNP	T	T	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr2:212251875T>G	ENST00000342788.4	-	27	3494	c.3183_splice	c.e27-1	p.N1062_splice	ERBB4_ENST00000436443.1_Splice_Site_p.N1046_splice|ERBB4_ENST00000402597.1_Splice_Site_p.N1052_splice	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1062					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACAAACTGGTTCTGTTAATAA	0.423000										TSP Lung(8;0.080)			31	70					0	0	0.144211	0	0
ZFAT	57623	broad.mit.edu	37	8	135524795	135524795	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:135524795G>A	ENST00000520727.1	-	15	3547	c.3248C>T	c.(3247-3249)aCa>aTa	p.T1083I	ZFAT_ENST00000377838.3_Missense_Mutation_p.T1095I|ZFAT_ENST00000429442.2_Missense_Mutation_p.T1083I|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.T1033I|ZFAT_ENST00000520214.1_Missense_Mutation_p.T1083I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1095					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTCGGCCTCTGTGATGTGGAG	0.522000													34	229					0	0	0.086207	0	0
GSDMC	56169	broad.mit.edu	37	8	130765053	130765053	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:130765053G>A	ENST00000276708.4	-	7	1616	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	245						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ctaccatttcggaaatttcgt	0.478000													13	86					0	0	0.132662	0	0
ATM	472	broad.mit.edu	37	11	108143284	108143284	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:108143284A>G	ENST00000278616.4	+	21	3488	c.3103A>G	c.(3103-3105)Ata>Gta	p.I1035V	ATM_ENST00000452508.2_Missense_Mutation_p.I1035V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1035					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGGAAATATATATTCTCTGT	0.308000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			10	25					0	0	0.093190	0	0
SLC12A3	6559	broad.mit.edu	37	16	56914084	56914084	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:56914084G>A	ENST00000438926.2	+	12	1515	c.1486G>A	c.(1486-1488)Ggc>Agc	p.G496S	SLC12A3_ENST00000566786.1_Missense_Mutation_p.G495S|SLC12A3_ENST00000563236.1_Missense_Mutation_p.G496S|SLC12A3_ENST00000262502.5_Missense_Mutation_p.G495S	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	496			G -> C (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CGGCTTCTTCGGCAAAGGCTA	0.612000													5	8					0	0	0.014758	0	0
RXFP3	51289	broad.mit.edu	37	5	33937766	33937766	+	Silent	SNP	G	G	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:33937766G>A	ENST00000330120.3	+	1	1276	c.921G>A	c.(919-921)gcG>gcA	p.A307A		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	307						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GAGGGGCCGCGGTAGCCGGAG	0.652000													6	7					0	0	0.021553	0	0
LARS	51520	broad.mit.edu	37	5	145506097	145506097	+	Silent	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:145506097T>A	ENST00000394434.2	-	28	3058	c.2892A>T	c.(2890-2892)ggA>ggT	p.G964G	LARS_ENST00000274562.9_Silent_p.G937G|LARS_ENST00000545646.1_Silent_p.G918G|LARS_ENST00000510191.1_Silent_p.G910G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	964					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGGCAGTTTTCCGTTATTGG	0.408000													31	9					0	0	0.134883	0	0
MYO10	4651	broad.mit.edu	37	5	16877787	16877787	+	Silent	SNP	G	G	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:16877787G>T	ENST00000513610.1	-	2	505	c.51C>A	c.(49-51)ggC>ggA	p.G17G	MYO10_ENST00000507288.1_Silent_p.G17G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	17	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAAAATGCTGGCCATTTTCTC	0.458000													12	20					2.80697e-09	3.13086e-09	0.080935	1	0
ADAMTSL5	339366	broad.mit.edu	37	19	1506029	1506029	+	Silent	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:1506029C>T	ENST00000330475.4	-	12	1844	c.1401G>A	c.(1399-1401)cgG>cgA	p.R467R	ADAMTSL5_ENST00000395467.2_3'UTR|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000413997.2_Silent_p.R477R	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	467	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CAGGACAGCGCCGGGCAGTCA	0.672000													9	6					0	0	0.047766	0	0
TPST2	8459	broad.mit.edu	37	22	26937142	26937142	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr22:26937142G>C	ENST00000338754.4	-	3	725	c.455C>G	c.(454-456)gCc>gGc	p.A152G	TPST2_ENST00000403880.1_Missense_Mutation_p.A152G|TPST2_ENST00000398110.2_Missense_Mutation_p.A152G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	152					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GAGCACGCGGGCCGGCTCTCC	0.637000													26	47					0	0	0.091800	0	0
PLD1	5337	broad.mit.edu	37	3	171394568	171394568	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:171394568T>G	ENST00000342215.6	-	16	1839	c.1724A>C	c.(1723-1725)cAg>cCg	p.Q575P	PLD1_ENST00000356327.5_Silent_p.A646A|PLD1_ENST00000340989.4_Silent_p.A684A|PLD1_ENST00000351298.4_Silent_p.A684A			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCCCGTGGACTGCAGAGGCAA	0.517000													8	33					0	0	0.038147	0	0
WDR70	55100	broad.mit.edu	37	5	37605263	37605263	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr5:37605263A>T	ENST00000265107.4	+	10	1171	c.1015A>T	c.(1015-1017)Aca>Tca	p.T339S	WDR70_ENST00000504564.1_Missense_Mutation_p.T339S|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	339										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTACGTGCACATATAGTAG	0.418000													21	54					0	0	0.049695	0	0
SSPO	23145	broad.mit.edu	37	7	149474828	149474828	+	RNA	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr7:149474828C>T	ENST00000378016.2	+	0	627							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGATGGCCGCCACTATCACT	0.697000													12	13					0	0	0.105934	0	0
PPM1L	151742	broad.mit.edu	37	3	160474321	160474321	+	Silent	SNP	T	T	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:160474321T>C	ENST00000498165.1	+	1	326	c.225T>C	c.(223-225)ctT>ctC	p.L75L	PPM1L_ENST00000497343.1_Silent_p.L75L	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	75					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCGGGGGGCTTGATGTGCTCG	0.597000													3	32					0	0	0.009096	0	0
RP11-468E2.4	0	broad.mit.edu	37	14	24624491	24624491	+	Silent	SNP	C	C	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr14:24624491C>G	ENST00000558468.1	+	4	681	c.681C>G	c.(679-681)ctC>ctG	p.L227L	RNF31_ENST00000559275.1_Silent_p.L601L|RNF31_ENST00000382687.3_Silent_p.L601L|RNF31_ENST00000324103.6_Silent_p.L752L																							GCCCCGACCTCACCGATGACA	0.577000													40	33					0	0	0.104719	0	0
MRPS25	64432	broad.mit.edu	37	3	15100956	15100956	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr3:15100956T>A	ENST00000253686.2	-	2	301	c.161A>T	c.(160-162)cAg>cTg	p.Q54L	MRPS25_ENST00000449354.2_Missense_Mutation_p.Q54L|MRPS25_ENST00000444840.2_Missense_Mutation_p.Q54L	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	54					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						GTATTGAATCTGAGGTATGTT	0.423000													5	11					0	0	0.021553	0	0
C4orf21	55345	broad.mit.edu	37	4	113553143	113553143	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:113553143C>T	ENST00000505019.1	-	3	170	c.45G>A	c.(43-45)atG>atA	p.M15I	C4orf21_ENST00000445203.2_5'UTR|C4orf21_ENST00000309071.5_Missense_Mutation_p.M15I	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	15										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTGACTTCTTCATCTTTTGAT	0.318000													26	10					0	0	0.134883	0	0
APAF1	317	broad.mit.edu	37	12	99060113	99060113	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr12:99060113A>G	ENST00000357310.1	+	9	1917	c.1340A>G	c.(1339-1341)gAg>gGg	p.E447G	APAF1_ENST00000547045.1_Missense_Mutation_p.E447G|APAF1_ENST00000359972.2_Missense_Mutation_p.E436G|APAF1_ENST00000339433.3_Missense_Mutation_p.E447G|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.E447G|APAF1_ENST00000549007.1_Missense_Mutation_p.E447G|APAF1_ENST00000550527.1_Missense_Mutation_p.E436G|APAF1_ENST00000552268.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	447					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTTCTTACAGAGAAGAATTGC	0.294000													28	30					0	0	0.134883	0	0
MAST2	23139	broad.mit.edu	37	1	46295227	46295228	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:46295227_46295228delTC	ENST00000361297.2	+	3	725_726	c.442_443delTC	c.(442-444)tfs	p.S148fs	MAST2_ENST00000372009.2_Frame_Shift_Del_p.S148fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	148					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCTTGGACAGTCTGCACCTTCT	0.446													39	32	---	---	---	---					
KIAA0907	22889	broad.mit.edu	37	1	155887376	155887387	+	In_Frame_Del	DEL	GGGGCTGGGGCT	GGGGCTGGGGCT	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr1:155887376_155887387delGGGGCTGGGGCT	ENST00000368320.3	-	11	1368_1379	c.1343_1354delAGCCCCAGCCCC	c.(1342-1356)cca>c	p.QPQPP448del	KIAA0907_ENST00000368321.3_In_Frame_Del_p.QPQPP448del			Q7Z7F0	K0907_HUMAN	KIAA0907	448	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTGGGAGTGggggctggggctggggctgggg	0.552													14	75	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187532702	187532705	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr4:187532702_187532705delCAAA	ENST00000441802.2	-	14	9897_9900	c.9688_9691delTTTG	c.(9688-9693)agfs	p.FE3230fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3230	Cadherin 29.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.F3230S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCACGGTACTCAAACACAGGGGGG	0.471										HNSCC(5;0.00058)			22	15	---	---	---	---					
LPA	4018	broad.mit.edu	37	6	161027646	161027647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr6:161027646_161027647insC	ENST00000447678.1	-	18	2767_2768	c.2647_2648insG	c.(2647-2649)cccfs	p.P883fs	LPA_ENST00000316300.5_Frame_Shift_Ins_p.P883fs	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3391	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACAATAAGGGGCTGCCACAGGA	0.525													7	130	---	---	---	---					
FAM66D	100132923	broad.mit.edu	37	8	11990871	11990871	+	RNA	DEL	G	G	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr8:11990871delG	ENST00000434078.2	+	0	608					NR_027425.1																						AAGGGTCAAAGGTGTCTGAAA	0.488													9	12	---	---	---	---					
RP11-34D15.2	0	broad.mit.edu	37	10	102104600	102104601	+	RNA	INS	-	-	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr10:102104600_102104601insT	ENST00000429420.1	-	0	103																											AAAAATCACAAttttttttttt	0.401													3	6	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													7	48	---	---	---	---					
OR4N4	283694	broad.mit.edu	37	15	22382920	22382921	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr15:22382920_22382921insT	ENST00000328795.4	+	1	539_540	c.448_449insT	c.(448-450)tggfs	p.W150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTCTGTGGCTTGGGGGTTTT	0.535													36	202	---	---	---	---					
CDH1	999	broad.mit.edu	37	16	68847250	68847255	+	In_Frame_Del	DEL	TCGTAA	TCGTAA	-	rs141864044		TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:68847250_68847255delTCGTAA	ENST00000261769.5	+	9	1363_1368	c.1172_1177delTCGTAA	c.(1171-1179)gtc>g	p.VVI391del	CDH1_ENST00000422392.2_Intron|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	391	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAGGCTAACGTCGTAATCACCACACT	0.495			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				16	64	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	71220808	71220808	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr16:71220808delT	ENST00000538248.1	-	2	106	c.72delA	c.(70-72)aafs	p.K24fs	HYDIN_ENST00000448691.1_5'UTR|HYDIN_ENST00000393550.2_5'UTR|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000448089.2_5'UTR|HYDIN_ENST00000393567.2_5'UTR|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000288168.10_Frame_Shift_Del_p.K14fs	NM_001198542.1	NP_001185471.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTTTAGTAATTTTTTTTTCT	0.333													17	67	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7797825	7797826	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:7797825_7797826insA	ENST00000380358.4	+	8	1346_1347	c.1345_1346insA	c.(1345-1347)aatfs	p.N449fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.N390fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.N390fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	390					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|protein binding|zinc ion binding	p.E390*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCAGGGTGGGGAAATTATTCTG	0.589													30	60	---	---	---	---					
SYNRG	11276	broad.mit.edu	37	17	35914100	35914101	+	Frame_Shift_Ins	INS	-	-	G	rs147693241	by1000genomes	TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:35914100_35914101insG	ENST00000339208.6	-	14	1864_1865	c.1724_1725insC	c.(1723-1725)agcfs	p.S575fs	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.S414fs|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.S496fs|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.S575fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	575	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACTATCGGCTGTTTTAAAATC	0.401													17	138	---	---	---	---					
COIL	8161	broad.mit.edu	37	17	55028117	55028118	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:55028117_55028118insT	ENST00000240316.4	-	2	519_520	c.485_486insA	c.(484-486)aaafs	p.K162fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	162						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTTTCTCTTGTTTTTTTTGCT	0.366													7	203	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													4	6	---	---	---	---					
TMEM200C	645369	broad.mit.edu	37	18	5890315	5890324	+	Frame_Shift_Del	DEL	GGTGGCTCCT	GGTGGCTCCT	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr18:5890315_5890324delGGTGGCTCCT	ENST00000581347.1	-	3	2384_2393	c.1739_1748delAGGAGCCACC	c.(1738-1749)ccfs	p.QEPP580fs	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Frame_Shift_Del_p.QEPP580fs			A6NKL6	T200C_HUMAN	transmembrane protein 200C	580						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTCGGCCGTGGGTGGCTCCTGGCTGGCACC	0.600													8	85	---	---	---	---					
NOTCH3	4854	broad.mit.edu	37	19	15296203	15296204	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chr19:15296203_15296204delCA	ENST00000263388.2	-	14	2235_2236	c.2160_2161delTG	c.(2158-2163)tgagfs	p.CE720fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	720	EGF-like 18.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGCCAGGCTCACACACACAGC	0.688													11	14	---	---	---	---					
DMD	1756	broad.mit.edu	37	X	31227736	31227736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6024-01A-11D-1683-08	TCGA-CN-6024-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0604584e-0654-4b00-94fc-45e76588000c	f6a9ac40-b1a9-4915-bfda-f2d01607b2b4	g.chrX:31227736delG	ENST00000357033.4	-	65	9648	c.9442delC	c.(9442-9444)tgfs	p.L3148fs	DMD_ENST00000343523.2_Frame_Shift_Del_p.L688fs|DMD_ENST00000361471.4_Frame_Shift_Del_p.L80fs|DMD_ENST00000378702.4_Frame_Shift_Del_p.L80fs|DMD_ENST00000378680.2_Frame_Shift_Del_p.L80fs|DMD_ENST00000359836.1_Frame_Shift_Del_p.L688fs|DMD_ENST00000378707.3_Frame_Shift_Del_p.L688fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.L3144fs|DMD_ENST00000541735.1_Frame_Shift_Del_p.L688fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.L688fs|DMD_ENST00000378723.3_Frame_Shift_Del_p.L80fs	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3148	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATAATCTGCAGGATATCCATG	0.448													21	11	---	---	---	---					
