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
LRP12	29967	broad.mit.edu	37	8	105509611	105509611	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr8:105509611G>T	uc003yma.3	-	4	1296	c.1169C>A	c.(1168-1170)aCt>aAt	p.T390N	LRP12_uc003ymb.3_Missense_Mutation_p.T371N|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	390	LDL-receptor class A 3.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.T390N(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCTGCTCAGTATAACACCC	0.453000													23	176					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112185102	112185102	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:112185102C>T	uc004bed.2	-	12	1144	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	PTPN3_uc004beb.2_Silent_p.V213V|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Silent_p.V57V|PTPN3_uc011lwf.1_Intron	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	344					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	p.V344V(3)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCCGCCAATCACCTTTTTGC	0.463000													78	117					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137219	121137219	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:121137219C>A	uc003eec.4	+	26	3474	c.3334C>A	c.(3334-3336)Ctt>Att	p.L1112I	STXBP5L_uc011bji.2_Missense_Mutation_p.L1088I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	1112					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.L1112I(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATCCCGCAGCCTTGCGCAACA	0.483000													4	42					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188485	98188485	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:98188485A>T	uc003dsm.3	+	0	65	c.65A>T	c.(64-66)gAg>gTg	p.E22V		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E22V(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATCACCCTGAGCTGAAGACT	0.413000													109	128					0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52780040	52780040	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:52780040C>A	uc003jpd.3	+	3	996	c.638C>A	c.(637-639)aCc>aAc	p.T213N	FST_uc003jpc.3_Missense_Mutation_p.T213N	NM_013409	NP_037541	P19883	FST_HUMAN	Homo sapiens follistatin (FST), transcript variant FST344, mRNA.	213	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	p.T213N(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GATGGAGTCACCTACTCCAGT	0.502000													13	95					0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23934359	23934359	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chrX:23934359T>C	uc004daz.1	+	4	681	c.337T>C	c.(337-339)Ttc>Ctc	p.F113L	CXorf58_uc011mju.1_Missense_Mutation_p.F113L	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.	113								p.F113L(4)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						GTTTCCACCTTTCATCGTGTT	0.338000													19	7					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210977309	210977309	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:210977309C>A	uc001hib.2	-	8	1832	c.1662_splice	c.e8+1	p.K554_splice	KCNH1_uc001hic.2_Splice_Site_p.K527_splice	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	554					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.K554N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCCTCCTTACCTTCTCTGTGT	0.488000													68	113					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326137	85326137	+	Silent	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr15:85326137G>A	uc002bld.3	+	3	567	c.231G>A	c.(229-231)gaG>gaA	p.E77E	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	77					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E77E(2)|p.E77Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCGCCAGGAGTCATTTGAAG	0.527000													9	83					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486842	94486842	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:94486842T>C	uc004arj.2	-	8	2133	c.1934A>G	c.(1933-1935)tAc>tGc	p.Y645C	ROR2_uc004ari.1_Missense_Mutation_p.Y505C	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	645	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.Y645C(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGCTTGTAGTAATCGGCGGC	0.562000													23	24					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98761035	98761035	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr10:98761035G>A	uc001kmw.2	-	36	4691	c.4439C>T	c.(4438-4440)aCg>aTg	p.T1480M		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1480	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding	p.T1480M(2)|p.T1480T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGGGGGCGCGTGGTCTGGCA	0.657000													60	85					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265577	3265577	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr8:3265577C>T	uc022aqr.1	-	13	2305	c.1915G>A	c.(1915-1917)Gcg>Acg	p.A639T	CSMD1_uc011kwj.2_Missense_Mutation_p.A32T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	640	CUB 4.					integral to membrane		p.A639T(2)|p.A368T(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTTGACCGCGAGAAAGTCA	0.453000													8	30					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636499	42636499	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636499C>T	uc002igx.2	+	0	1688	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	481					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.F481F(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTTGCTACTTCTACGAGCAGG	0.647000													23	36					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34180279	34180279	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr19:34180279G>A	uc002nus.4	+	2	617	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	CHST8_uc002nut.4_Missense_Mutation_p.A38T|CHST8_uc002nuu.3_Missense_Mutation_p.A38T	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	38					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.A38T(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TACGGAGCTCGCCCCCCAGCA	0.632000													50	103					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179731798	179731798	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:179731798C>T	uc003mlw.1	-	16	1914	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	606	SIS 2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.A606T(2)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGCTGCAGGGCGTTCTGGCAT	0.607000													23	292					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636061	42636061	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636061C>G	uc002igx.2	+	0	1250	c.1005C>G	c.(1003-1005)taC>taG	p.Y335*		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	335					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.Y335*(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGATGCTCTACTTCTTCAGCA	0.617000													33	71					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582081	55582081	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr10:55582081G>T	uc010qhy.1	-	34	5821	c.5426C>A	c.(5425-5427)aCg>aAg	p.T1809K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.T1804K|PCDH15_uc021pqz.1_Missense_Mutation_p.T1779K|PCDH15_uc010qhv.1_Missense_Mutation_p.T1799K|PCDH15_uc010qhw.1_Missense_Mutation_p.T1762K|PCDH15_uc010qhx.1_Missense_Mutation_p.T1733K|PCDH15_uc010qhz.1_Missense_Mutation_p.T1804K|PCDH15_uc010qia.1_Missense_Mutation_p.T1782K|PCDH15_uc001jju.1_Missense_Mutation_p.T1802K|PCDH15_uc010qib.1_Missense_Mutation_p.T1779K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1802					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGACCAGACGTTGAAACGGA	0.488000										HNSCC(58;0.16)			3	37					0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000													4	63					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563512	22563512	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr20:22563512G>A	uc002wsm.3	-	1	553	c.368C>T	c.(367-369)gCg>gTg	p.A123V	FOXA2_uc002wsn.3_Missense_Mutation_p.A117V	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	117					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|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific 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	p.A117V(1)		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)					GGCCCCGGCCGCCTGCCCCCC	0.781000													11	17					0	0	1	0	0
SLC25A20	788	broad.mit.edu	37	3	48896044	48896044	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:48896044T>G	uc003cva.4	-	7	938	c.739A>C	c.(739-741)Aat>Cat	p.N247H	SLC25A20_uc011bbw.2_Missense_Mutation_p.N197H	NM_000387	NP_000378	O43772	MCAT_HUMAN	Homo sapiens solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20), nuclear gene encoding mitochondrial protein, mRNA.	247					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	p.N247H(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTGAAACCATTAGGATATTTC	0.493000													82	126					0	0	1	0	0
TH1L	51497	broad.mit.edu	37	20	57564072	57564072	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr20:57564072T>A	uc002yag.3	+	4	554	c.527T>A	c.(526-528)gTt>gAt	p.V176D	TH1L_uc010zzu.1_Missense_Mutation_p.V176D|TH1L_uc002yaf.1_Non-coding_Transcript	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA.	176					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding	p.V176D(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23	all_lung(29;0.00711)		Colorectal(105;0.109)			AACTTCACCGTTAAGGTAGGA	0.408000													5	89					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524316	112524316	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:112524316C>T	uc001ebu.1	-	1	1513	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S	KCND3_uc001ebv.1_Missense_Mutation_p.G345S	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	345						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.G345S(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GCCGAGGAGCCCTTCTCGGCA	0.527000													35	39					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152832185	152832185	+	Silent	SNP	T	T	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:152832185T>A	uc021zhb.1	-	4	586	c.363A>T	c.(361-363)atA>atT	p.I121I	SYNE1_uc003qot.4_Silent_p.I128I|SYNE1_uc003qou.4_Silent_p.I121I|SYNE1_uc010kjb.1_Silent_p.I121I|SYNE1_uc003qpa.1_Silent_p.I121I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	121	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.I121I(4)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCAAGAACTATTGAGGGTC	0.373000										HNSCC(10;0.0054)			27	155					0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41611325	41611325	+	Silent	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:41611325G>A	uc002idw.3	-	5	413	c.285C>T	c.(283-285)atC>atT	p.I95I	ETV4_uc010wih.2_Silent_p.I95I|ETV4_uc010czh.3_Silent_p.I94I|ETV4_uc010wii.2_Silent_p.I56I|ETV4_uc002idx.3_Silent_p.I95I|ETV4_uc010wij.2_Silent_p.I56I|ETV4_uc002idy.1_Silent_p.I56I	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	95					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I95I(1)	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCTCCTTCTTGATCCTGGTGG	0.627000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								37	18					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105804548	105804548	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:105804548G>A	uc001pix.2	+	13	2593	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H	GRIA4_uc001piw.2_Missense_Mutation_p.R716H|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Non-coding_Transcript	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	716					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.R716H(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GCTCGTGTCCGCAAATCCAAG	0.458000													5	41					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91846539	91846539	+	Splice_Site	SNP	G	G	A	rs146051438		TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:91846539G>A	uc001doa.4	-	7	902	c.803_splice	c.e7-1	p.P268_splice	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Splice_Site_p.P268_splice	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	268							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.P268L(2)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAATTTTGCCGCTTACAATAA	0.214000													14	108					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89523762	89523762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:89523762C>T	uc001dmx.2	-	5	1007	c.787G>A	c.(787-789)Gtg>Atg	p.V263M		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	263					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.V263M(2)|p.F262S(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACTTGTTGCACAAATTCGGGG	0.473000													23	351					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636173	42636173	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636173C>T	uc002igx.2	+	0	1362	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	373					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.H373Y(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAGTACTTCCACCTGGCCGC	0.662000													52	90					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42635702	42635702	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635702C>G	uc002igx.2	+	0	891	c.646C>G	c.(646-648)Ctg>Gtg	p.L216V		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	216					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.L216V(2)|p.L216L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTACAAGTTTCTGGGCGAGCG	0.672000													22	22					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146243842	146243842	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:146243842C>G	uc003qlf.3	-	18	4075	c.3676G>C	c.(3676-3678)Gca>Cca	p.A1226P	SHPRH_uc003qle.3_Missense_Mutation_p.A1230P|SHPRH_uc003qlg.1_Missense_Mutation_p.A782P|SHPRH_uc003qlh.3_Missense_Mutation_p.A151P|SHPRH_uc003qli.1_Missense_Mutation_p.A151P	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1226					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.A1230P(2)|p.V1226D(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAGACTGTTGCAGACTCAATA	0.408000													14	49					0	0	1	0	0
FAM100A	124402	broad.mit.edu	37	16	4659659	4659659	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr16:4659659T>G	uc002cwx.2	-	2	638	c.509A>C	c.(508-510)cAc>cCc	p.H170P		NM_145253	NP_660296	Q8TB05	F100A_HUMAN	Homo sapiens family with sequence similarity 100, member A (FAM100A), mRNA.	170	Pro-rich.							p.H170P(2)		endometrium(1)|prostate(1)	2						CATGGCAGGGTGGGCCCTGGG	0.711000													9	31					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	30986138	30986138	+	Silent	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:30986138G>A	uc002hho.1	-	16	2352	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	MYO1D_uc002hhp.1_Silent_p.F780F	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	780						myosin complex	ATP binding|actin binding|calmodulin binding	p.F780F(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CTTACCTATTGAAAATCGTCT	0.493000											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	61					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108192065	108192065	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:108192065G>A	uc001pkb.1	+	44	6875	c.6490G>A	c.(6490-6492)Gag>Aag	p.E2164K	ATM_uc009yxr.1_Missense_Mutation_p.E2164K|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.E816K|ATM_uc001pkg.1_Missense_Mutation_p.E521K	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2164	FAT.		E -> K (in T-prolymphocytic leukemia).		DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|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 N-terminus binding|protein complex binding|protein dimerization activity	p.E2164K(5)		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)		GCGCAGCCTTGAGTCTGTGTA	0.413000			"""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)			66	131					0	0	1	0	0
SGCD	6444	broad.mit.edu	37	5	156184679	156184679	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:156184679C>T	uc003lwc.4	+	7	1182	c.663C>T	c.(661-663)tgC>tgT	p.C221C	SGCD_uc003lwb.3_Silent_p.C221C|SGCD_uc003lwd.4_Silent_p.C220C	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	220					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.C221C(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGCCACCTGCAGGACAGAGC	0.512000													7	12					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898891	37898891	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:37898891T>G	uc002hsr.3	+	2	503	c.228T>G	c.(226-228)agT>agG	p.S76R	GRB7_uc002hss.3_Missense_Mutation_p.S76R|GRB7_uc021twu.1_Missense_Mutation_p.S99R|GRB7_uc010cwc.3_Missense_Mutation_p.S76R|GRB7_uc002hst.3_Missense_Mutation_p.S76R	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	76					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding	p.S76R(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCTCTGCAGTCCTCCCTCAC	0.632000													60	109					0	0	1	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403808	28403808	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:28403808G>A	uc003nli.4	-	1	417	c.236C>T	c.(235-237)cCa>cTa	p.P79L	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Intron|ZSCAN23_uc011dli.2_Missense_Mutation_p.P79L	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	79	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P79L(2)		breast(1)|prostate(1)|stomach(2)	4						GTGCATCTCTGGTCTCAGCCA	0.587000													5	43					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	Silent	SNP	C	C	T	rs58649169	by1000genomes	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr7:142479940C>T	uc011ksq.2	+	1	155	c.72C>T	c.(70-72)atC>atT	p.I24I	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ATGACAAGATCGTTGGGGGCT	0.557000													5	63					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636211	42636211	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636211C>T	uc002igx.2	+	0	1400	c.1155C>T	c.(1153-1155)atC>atT	p.I385I		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	385					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.I385I(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAAGACCATCACCATCCTGG	0.677000													53	93					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42635653	42635653	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635653C>A	uc002igx.2	+	0	842	c.597C>A	c.(595-597)ttC>ttA	p.F199L		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	199					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.F199L(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGCACCCCTTCCACTGCCCGC	0.741000													4	5					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117053579	117053579	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chrX:117053579G>C	uc011mtp.2	-	4	617	c.484C>G	c.(484-486)Ctt>Gtt	p.L162V	KLHL13_uc004eqk.3_Missense_Mutation_p.L108V|KLHL13_uc004eql.3_Missense_Mutation_p.L159V|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.L153V|KLHL13_uc011mtq.2_Missense_Mutation_p.L143V|KLHL13_uc004eqm.3_Missense_Mutation_p.L117V|KLHL13_uc022cde.1_Missense_Mutation_p.L143V	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	159					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.L159V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCATATTAAGAGAAAGCTTT	0.378000													6	80					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207456	58207456	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr13:58207456G>T	uc001vhq.1	+	0	1668	c.776G>T	c.(775-777)gGt>gTt	p.G259V	PCDH17_uc010aec.1_Missense_Mutation_p.G259V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	259	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G259V(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCTCCGCTGGGTACAGTGGTC	0.582000													35	51					0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91229663	91229663	+	Silent	SNP	T	T	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr4:91229663T>C	uc003hsv.4	+	1	568	c.228T>C	c.(226-228)agT>agC	p.S76S	FAM190A_uc003hsu.3_Silent_p.S76S|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Silent_p.S76S	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	76								p.S76S(2)		NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AGAAGGGGAGTGAGCCTAAGC	0.458000													53	86					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015938	145015938	+	Silent	SNP	C	C	T	rs144857876	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:145015938C>T	uc001elx.4	-	2	533	c.150G>A	c.(148-150)ccG>ccA	p.P50P	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elm.4_5'UTR|PDE4DIP_uc001eln.4_Silent_p.P50P|PDE4DIP_uc001elo.3_Silent_p.P121P|PDE4DIP_uc001emh.3_Silent_p.P121P|BX647792_uc001emj.3_Intron	NM_001198832	NP_001185761	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 8, mRNA.	0					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.P121P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGCACAAACGGGACCTTTT	0.443000			T	PDGFRB	MPD								73	518					0	0	1	0	0
ZNF500	26048	broad.mit.edu	37	16	4810588	4810588	+	Splice_Site	SNP	A	A	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr16:4810588A>C	uc002cxp.1	-	5	911	c.664_splice	c.e5-1	p.V222_splice	ZNF500_uc002cxo.1_Splice_Site_p.V14_splice|ZNF500_uc010uxt.1_Splice_Site_p.V222_splice	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V222G(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GTTCACGGGCACCTGCCAGAA	0.637000													10	33					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91712644	91712644	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr7:91712644T>G	uc003ulg.3	+	32	8546	c.8321T>G	c.(8320-8322)cTg>cGg	p.L2774R	AKAP9_uc003ulf.3_Missense_Mutation_p.L2766R|AKAP9_uc003uli.3_Missense_Mutation_p.L2397R|AKAP9_uc003ulj.3_Missense_Mutation_p.L544R|AKAP9_uc003ulk.3_Missense_Mutation_p.L49R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2786					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	p.L2786R(1)|p.L2774R(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTATAAAACTGAGTAAGAGC	0.388000			T	BRAF	papillary thyroid								10	63					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134497351	134497351	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:134497351C>T	uc022bos.1	-	10	1899	c.1740G>A	c.(1738-1740)tcG>tcA	p.S580S	RAPGEF1_uc022bot.1_Silent_p.S562S|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Silent_p.S567S|RAPGEF1_uc022bov.1_Silent_p.S567S|RAPGEF1_uc010mzr.1_Silent_p.S8S|RAPGEF1_uc010mzq.1_Silent_p.S8S|RAPGEF1_uc010mzs.1_Silent_p.S8S|RAPGEF1_uc010mzl.1_Silent_p.S8S|RAPGEF1_uc010mzo.1_Silent_p.S8S|RAPGEF1_uc010mzp.1_Silent_p.S8S	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	562					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity	p.S580S(2)|p.S257S(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTGCGGCTCCGAGTAGTCCT	0.587000													10	17					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42635479	42635479	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635479C>T	uc002igx.2	+	0	668	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	141	FZ.				G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.F141F(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGAGCACTTCCCGCGCCACG	0.711000													36	45					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217708	150217708	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr7:150217708C>T	uc003whk.3	+	1	776	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	GIMAP7_uc022apu.1_Missense_Mutation_p.R216W	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	216							GTP binding	p.R216W(2)|p.R216L(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGAAACAACGGGAAGAGGT	0.403000													28	43					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	210968826	210968826	+	Splice_Site	SNP	A	A	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:210968826A>C	uc002vds.3	-	4	1636	c.1428_splice	c.e4+1	p.Q476_splice	KANSL1L_uc002vdt.3_Splice_Site_p.Q476_splice|KANSL1L_uc002vdw.3_Splice_Site_p.Q476_splice|KANSL1L_uc002vdv.3_Splice_Site_p.Q476_splice|KANSL1L_uc002vdx.1_Splice_Site_p.Q476_splice	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	476								p.?(1)									CTTTGACTTTACCTGTTTTTC	0.368000													7	79					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790584	133790584	+	Silent	SNP	G	G	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:133790584G>T	uc001qgx.4	-	17	3267	c.3036C>A	c.(3034-3036)atC>atA	p.I1012I		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1012	Pro-rich.					integral to membrane|plasma membrane		p.I1012I(1)|p.I468I(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCTCCTCGGGGATGGTGGGGT	0.672000													8	109					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	59805628	59805629	+	Splice_Site	DEL	AG	-	-			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:59805628_59805629delAG	uc009wac.3	+	3	414	c.202_splice	c.e3-1	p.K68_splice	FGGY_uc001czg.2_Intron|FGGY_uc001czh.2_Splice_Site|FGGY_uc001czi.4_Splice_Site_p.K68_splice|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	68					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TTTTTAAAACAGAAAGTTGTAC	0.342													9	37	---	---	---	---					
ARID4B	51742	broad.mit.edu	37	1	235345290	235345317	+	Frame_Shift_Del	DEL	CACTGGGTGAACAACTCTCCTCTTCAGC	-	-	rs148934238	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:235345290_235345317delCACTGGGTGAACAACTCTCCTCTTCAGC	uc021pks.1	-	19	3294_3321	c.2917_2944delGCTGAAGAGGAGAGTTGTTCACCCAGTG	c.(2917-2946)gctgaagaggagagttgttcacccagtgtafs	p.A973fs	ARID4B_uc001hwq.3_Frame_Shift_Del_p.A973fs|ARID4B_uc001hwr.3_Frame_Shift_Del_p.A887fs|ARID4B_uc001hws.4_Frame_Shift_Del_p.A887fs|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Frame_Shift_Del_p.A654fs	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	973					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.V982L(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTAGTTCTACACTGGGTGAACAACTCTCCTCTTCAGCCACAGTCTGC	0.487													21	202	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179425049	179425050	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:179425049_179425050insT	uc021vsy.1	-	274	78330_78331	c.78105_78106insA	c.(78103-78108)aaaccafs	p.K26035fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Ins_p.K19730fs|TTN_uc021vta.1_Frame_Shift_Ins_p.K19663fs|TTN_uc021vtb.1_Frame_Shift_Ins_p.K19538fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26962	Ig-like 126.						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)			TCATAAACTGGTTTTTTGTTTA	0.406													15	98	---	---	---	---					
DGKD	8527	broad.mit.edu	37	2	234296911	234296912	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:234296911_234296912insA	uc002vui.1	+	1	177_178	c.165_166insA	c.(163-168)atcaaafs	p.I55fs	DGKD_uc002vuj.1_Frame_Shift_Ins_p.I11fs	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	55	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGACCATCATCAAAGAGGGGAT	0.441													15	159	---	---	---	---					
ABHD10	55347	broad.mit.edu	37	3	111705862	111705863	+	Frame_Shift_Ins	INS	-	ACCTTAG	ACCTTAG			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:111705862_111705863insACCTTAG	uc003dyk.4	+	3	621_622	c.540_541insACCTTAG	c.(538-543)gataccfs	p.D180fs	ABHD10_uc011bhq.2_Frame_Shift_Ins_p.D23fs	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA.	180						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						CAGCTGCAGATACCTTAGTGAC	0.441													12	135	---	---	---	---					
SDHA	6389	broad.mit.edu	37	5	251704	251704	+	Frame_Shift_Del	DEL	G	-	-	rs111797600	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:251704delG	uc011clv.1	+	12	2030	c.1915delG	c.(1915-1917)gccfs	p.A639fs	SDHA_uc003jao.4_Intron|SDHA_uc011clw.2_Intron|SDHA_uc003jaq.4_Intron|SDHA_uc021xvu.1_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	0					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCCAAAAAATGCCTTTTTCCC	0.517									Familial Paragangliomas				2	4	---	---	---	---					
