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
MACF1	23499	broad.mit.edu	37	1	39908220	39908220	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:39908220T>C	ENST00000564288.1	+	77	19862	c.19085T>C	c.(19084-19086)gTt>gCt	p.V6362A	MACF1_ENST00000372915.3_Missense_Mutation_p.V6261A|MACF1_ENST00000317713.7_Missense_Mutation_p.V4303A|MACF1_ENST00000567887.1_Missense_Mutation_p.V6399A|MACF1_ENST00000289893.4_Missense_Mutation_p.V4805A|MACF1_ENST00000539005.1_Missense_Mutation_p.V4173A|MACF1_ENST00000545844.1_Missense_Mutation_p.V4303A|MACF1_ENST00000361689.2_Missense_Mutation_p.V4303A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6370					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCATTGAAGTTGAGCTCGCA	0.423000													7	68					0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16611793	16611793	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:16611793C>A	ENST00000221671.3	+	2	346	c.190C>A	c.(190-192)Ctg>Atg	p.L64M	C19orf44_ENST00000594035.1_Missense_Mutation_p.L64M|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	64										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACACTTACTCCTGAAAGAGAA	0.478000													63	96					2.40885e-21	2.81032e-21	1	1	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													5	252					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30859877	30859877	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr6:30859877A>G	ENST00000324771.8	+	9	1312	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	DDR1_ENST00000376568.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376569.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376570.4_Missense_Mutation_p.Y255C|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000418800.2_Missense_Mutation_p.Y255C|DDR1_ENST00000454612.2_Missense_Mutation_p.Y255C|DDR1_ENST00000376575.3_Missense_Mutation_p.Y255C|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.Y273C|DDR1_ENST00000376567.2_Missense_Mutation_p.Y255C|DDR1_ENST00000452441.1_Missense_Mutation_p.Y255C|DDR1_ENST00000446312.1_Missense_Mutation_p.M222V|DDR1_ENST00000513240.1_Missense_Mutation_p.Y255C			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	255					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGCTATGACTATGTGGGATGG	0.577000													8	129					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTTGAGGCCGGCATAAACCCC	0.517000													5	142					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45745845	45745845	+	Splice_Site	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr21:45745845G>A	ENST00000403390.1	+	21	2132	c.2130_splice	c.e21-1	p.G711_splice	PFKL_ENST00000349048.4_Splice_Site_p.G664_splice			P17858	K6PL_HUMAN	phosphofructokinase, liver	664					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGTTTCCAGGGTGGCGCTCCA	0.657000													7	8					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253906	39253906	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr17:39253906C>A	ENST00000333822.4	-	1	487	c.431G>T	c.(430-432)tGc>tTc	p.C144F		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	144	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ggggcggcagcagctggattc	0.672000													4	11					0.150653	0.150653	1	1	0
CDH4	1002	broad.mit.edu	37	20	60485514	60485514	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr20:60485514G>A	ENST00000360469.5	+	9	1313	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M	CDH4_ENST00000543233.1_Missense_Mutation_p.V335M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	409	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGTGGAGACCGTGGTCGCAAA	0.532000													16	23					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101595338	101595338	+	Silent	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr15:101595338G>A	ENST00000284395.5	+	28	4633	c.4233G>A	c.(4231-4233)agG>agA	p.R1411R	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.R1414R			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1414	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGATTTCGAGGCAGTCATTCC	0.537000													24	43					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23885342	23885342	+	Silent	SNP	G	G	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr14:23885342G>T	ENST00000355349.3	-	34	4986	c.4824C>A	c.(4822-4824)cgC>cgA	p.R1608R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1608					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGCCTCGTTGCGGCTGCGTG	0.627000													11	96					0.010729	0.0112655	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													6	295					0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555467	125555467	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr8:125555467A>G	ENST00000522532.1	+	2	288	c.241A>G	c.(241-243)Atc>Gtc	p.I81V	NDUFB9_ENST00000276689.3_Missense_Mutation_p.I81V|NDUFB9_ENST00000518008.1_Missense_Mutation_p.I81V|NDUFB9_ENST00000517367.1_Missense_Mutation_p.I70V			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	81					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	ACAGCCATACATCTTCCCTGA	0.473000													5	60					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798756	55798756	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr11:55798756A>G	ENST00000313555.1	+	1	862	c.862A>G	c.(862-864)Ata>Gta	p.I288V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTTTAATCCAATAATTTATAG	0.333000													3	68					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84121008	84121008	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr16:84121008A>C	ENST00000343411.3	-	9	1584	c.1089T>G	c.(1087-1089)ttT>ttG	p.F363L	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	363	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTATCTTCAAAGTCAATGC	0.383000													15	84					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10318896	10318896	+	Splice_Site	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr17:10318896C>T	ENST00000403437.2	-	7	635	c.539_splice	c.e7-1	p.G181_splice	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	181	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			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						CCAGATTCTCCGCTGTCAAAC	0.413000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				53	63					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135979208	135979208	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:135979208C>T	ENST00000393160.3	-	11	1872	c.1519G>A	c.(1519-1521)Ggc>Agc	p.G507S	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Missense_Mutation_p.G533S|RALGDS_ENST00000372047.3_Missense_Mutation_p.G550S|RALGDS_ENST00000372050.3_Missense_Mutation_p.G562S|RALGDS_ENST00000393157.3_Missense_Mutation_p.G561S|RALGDS_ENST00000542690.1_Missense_Mutation_p.G633S	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	562	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGAACGGTGCCCTGGATGATG	0.607000			T	CIITA	"""PMBL, Hodgkin Lymphona, """						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	51					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544860	23544860	+	Silent	SNP	T	T	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:23544860T>A	ENST00000300619.7	-	4	1126	c.921A>T	c.(919-921)tcA>tcT	p.S307S	ZNF91_ENST00000397082.2_Silent_p.S275S|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	307						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGCAAGGGTTGAAGAATGGC	0.398000													53	81					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115643	52115643	+	Silent	SNP	G	G	A	rs141897891	byFrequency	TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:52115643G>A	ENST00000222107.4	-	9	1635	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P	SIGLEC5_ENST00000570106.2_Silent_p.P499P|SIGLEC5_ENST00000534261.2_Silent_p.P499P|SIGLEC5_ENST00000599649.1_Silent_p.P499P|SIGLEC5_ENST00000429354.3_Silent_p.P499P			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	499			P -> A (in dbSNP:rs3829655).		cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGATCTCCGGGGCTGTCTG	0.507000													35	37					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142145597	142145597	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr3:142145597C>T	ENST00000264951.4	-	3	512	c.395G>A	c.(394-396)tGt>tAt	p.C132Y	XRN1_ENST00000463916.1_Missense_Mutation_p.C132Y|XRN1_ENST00000392981.2_Missense_Mutation_p.C132Y|XRN1_ENST00000544157.1_Intron	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	132					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGGTGTGATACAGTTGGAATC	0.333000													37	44					0	0	1	0	0
MST1L	0	broad.mit.edu	37	1	17083816	17083816	+	RNA	SNP	G	G	A	rs11260920	by1000genomes	TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:17083816G>A	ENST00000455405.2	-	0	772																											GTGCATACTCGGTTGGGGATT	0.572000													3	34					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1480927	1480927	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:1480927G>A	ENST00000345913.4	+	8	980	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	TPO_ENST00000337415.3_Missense_Mutation_p.G297S|TPO_ENST00000346956.3_Missense_Mutation_p.G297S|TPO_ENST00000329066.4_Missense_Mutation_p.G297S|TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.G297S|TPO_ENST00000349624.3_Intron|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	297					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCCTGCGGCACCGGGGA	0.692000													3	8					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777634	152777634	+	Silent	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:152777634G>A	ENST00000368768.1	-	2	371	c.321C>T	c.(319-321)ggC>ggT	p.G107G	LCE1C_ENST00000607093.1_Silent_p.G107G	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	107	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCCCCCGCCACAGCAGC	0.662000													6	33					0	0	1	0	0
IGKV2-30	0	broad.mit.edu	37	2	89544288	89544288	+	RNA	SNP	G	G	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:89544288G>T	ENST00000468494.1	-	0	365																											CTTGCATGCAGTAATAAACCC	0.567000													4	141					0.00909568	0.00979535	1	1	0
TNP1	7141	broad.mit.edu	37	2	217724631	217724631	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:217724631G>A	ENST00000236979.2	-	1	156	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	43					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCGCCCCGTTTCCTACTT	0.552000													49	94					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126146148	126146148	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:126146148C>T	ENST00000373624.2	-	21	1823	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D	DENND1A_ENST00000394219.3_Missense_Mutation_p.G552D|DENND1A_ENST00000542603.1_Missense_Mutation_p.G326D|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	541						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGCCTCGTCGCCTTCCGCGCT	0.657000													6	100					0	0	1	0	0
CSAG4	0	broad.mit.edu	37	X	151896231	151896231	+	RNA	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chrX:151896231A>G	ENST00000361201.4	-	0	499					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						GAGTGGCTGGATAGTGTTGGC	0.517000													5	27					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280616	152280616	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:152280616C>G	ENST00000368799.1	-	3	6781	c.6746G>C	c.(6745-6747)aGt>aCt	p.S2249T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2249	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCCTCACTGTCACTGTC	0.592000									Ichthyosis				6	325					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													3	60					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8578934	8578934	+	Silent	SNP	C	C	T	rs35113439	byFrequency	TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr3:8578934C>T	ENST00000157600.3	+	3	427	c.195C>T	c.(193-195)gaC>gaT	p.D65D	LMCD1_ENST00000535732.1_Silent_p.D65D|LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_5'UTR|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	65					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ACCTAGAAGACGATCGGAAAA	0.532000													22	35					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199016	118199016	+	Silent	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr12:118199016C>T	ENST00000425217.1	-	4	753	c.699G>A	c.(697-699)ccG>ccA	p.P233P	KSR2_ENST00000339824.5_Silent_p.P262P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	262	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGGTGCGCGGCGGGGTGC	0.751000													6	229					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22562677	22562677	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr20:22562677G>C	ENST00000419308.2	-	2	1387	c.1185C>G	c.(1183-1185)caC>caG	p.H395Q	FOXA2_ENST00000377115.4_Missense_Mutation_p.H395Q|FOXA2_ENST00000319993.4_Missense_Mutation_p.H401Q	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	395	Transactivation domain 2 (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)					TGTGGGGTtggtggtggtggt	0.612000													3	41					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197887072	197887072	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:197887072G>T	ENST00000367390.3	+	2	119	c.92G>T	c.(91-93)aGa>aTa	p.R31I	LHX9_ENST00000367391.1_Missense_Mutation_p.R31I|LHX9_ENST00000367387.4_Missense_Mutation_p.R40I|LHX9_ENST00000337020.2_Missense_Mutation_p.R40I|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000561173.1_Missense_Mutation_p.R46I	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	40					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ATGGAGCGCAGATCCAAGACT	0.667000													8	94					5.4927e-09	6.07088e-09	1	1	0
TRAF2	7186	broad.mit.edu	37	9	139802603	139802603	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:139802603C>T	ENST00000359662.3	+	5	649	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.R150C|TRAF2_ENST00000247668.2_Missense_Mutation_p.R150C			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	150					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGAAAAGGAGCGCCACCTGGA	0.652000													3	30					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2158549	2158549	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr16:2158549G>A	ENST00000262304.4	-	15	6827	c.6619C>T	c.(6619-6621)Ccc>Tcc	p.P2207S	PKD1_ENST00000423118.1_Missense_Mutation_p.P2207S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2207	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCACGCCGGGCAGGGCCACA	0.697000													3	19					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330248	51330248	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:51330248G>A	ENST00000326856.4	-	4	493	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	KLK15_ENST00000598239.1_Missense_Mutation_p.R123C|KLK15_ENST00000301421.2_Missense_Mutation_p.R123C|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000596931.1_Missense_Mutation_p.R122C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	123	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R123S(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACCGCGGGGCGCACCTGGGGG	0.701000													18	64					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													2	4	---	---	---	---					
ADAM12	8038	broad.mit.edu	37	10	127705896	127705896	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr10:127705896delT	ENST00000368679.4	-	23	2991	c.2682delA	c.(2680-2682)cafs	p.Q894fs		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	894					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGTGTGGATATTGTGGAGCAG	0.438													2	4	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89403409	89403409	+	RNA	DEL	T	T	-			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr11:89403409delT	ENST00000532352.1	+	0	908							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						tttgtacgccttttcccctgt	0.398													2	4	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr12:113704096_113704098delCTG	ENST00000550785.1	+	5	734_736	c.565_567delCTG	c.(565-567)del	p.L194del	TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.640													8	649	---	---	---	---					
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs140689079		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggc>gg	p.GD14del	POLI_ENST00000406285.3_In_Frame_Del_p.GD14del|POLI_ENST00000579434.1_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	14					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)					3	3	---	---	---	---