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
VPS13A	23230	broad.mit.edu	37	9	79816284	79816284	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr9:79816284C>T	ENST00000360280.3	+	3	408	c.148C>T	c.(148-150)Caa>Taa	p.Q50*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q50*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q50*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q50*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	50					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTGTAGAGTCAACTGGATGT	0.313000													11	79					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81198340	81198340	+	RNA	SNP	C	C	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr16:81198340C>G	ENST00000533478.1	-	0	1309				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCATCAGGGCGCAGGGAGGA	0.612000													16	43					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21227226	21227226	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:21227226G>T	ENST00000233242.1	-	28	12129	c.12002C>A	c.(12001-12003)gCa>gAa	p.A4001E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4001					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGGGAGGCTGCTGAGGTGGA	0.502000													16	48					1.5739e-10	2.28469e-10	1	1	0
ZBTB3	79842	broad.mit.edu	37	11	62521622	62521622	+	Translation_Start_Site	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:62521622G>T	ENST00000394807.3	-	0	38					NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGCAGCCACAGGGCGAGCTCC	0.577000													5	14					1.23904e-05	1.43889e-05	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77431670	77431670	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr9:77431670G>A	ENST00000451710.3	-	11	1460	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	TRPM6_ENST00000376872.3_Missense_Mutation_p.A408V|TRPM6_ENST00000449912.2_Missense_Mutation_p.A403V|TRPM6_ENST00000376864.4_Missense_Mutation_p.A408V|TRPM6_ENST00000376871.3_Missense_Mutation_p.A408V|TRPM6_ENST00000361255.3_Missense_Mutation_p.A403V|TRPM6_ENST00000360774.1_Missense_Mutation_p.A408V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	408					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGCTCTGACGCTGATAAATT	0.383000													8	69					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923827	24923827	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr15:24923827G>T	ENST00000329468.2	+	1	3287	c.2813G>T	c.(2812-2814)gGc>gTc	p.G938V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCACTGAGTGGCAGCATAATT	0.488000													10	78					4.84862e-15	7.97033e-15	1	1	0
C4A	720	broad.mit.edu	37	6	31964305	31964305	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:31964305C>A	ENST00000428956.2	+	28	3688	c.3604C>A	c.(3604-3606)Ctg>Atg	p.L1202M	C4A_ENST00000498271.1_Missense_Mutation_p.L1202M	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		TGCCCTGACACTGACCAAGGC	0.607000													8	47					1.06961e-07	1.34167e-07	1	1	0
COLGALT2	23127	broad.mit.edu	37	1	183907988	183907988	+	Silent	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:183907988C>T	ENST00000361927.4	-	12	2159	c.1788G>A	c.(1786-1788)cgG>cgA	p.R596R	COLGALT2_ENST00000367520.3_Silent_p.R333R|COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000367521.1_Silent_p.R204R|COLGALT2_ENST00000546159.1_Intron	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		GGCTTTGCTTCCGGGACTTCC	0.597000													20	44					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203424500	203424500	+	Missense_Mutation	SNP	G	G	A	rs148099152		TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:203424500G>A	ENST00000374580.4	+	13	3487	c.2948G>A	c.(2947-2949)cGg>cAg	p.R983Q	BMPR2_ENST00000374574.2_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	983					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TCTCTTAAGCGGTGGCGCCCC	0.463000													6	34					0	0	1	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652518	45652518	+	RNA	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:45652518G>C	ENST00000427229.2	+	0	2032																											CATCTGTAAAGACTGAATGCG	0.363000													5	14					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460274	107460274	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:107460274C>A	ENST00000409382.3	-	2	770	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.V54L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V54L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	54					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTCCCCTGCACCGGCAGGAGC	0.682000													11	24					3.86212e-05	4.42791e-05	1	1	0
MSLNL	401827	broad.mit.edu	37	16	823190	823190	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr16:823190G>T	ENST00000293892.3	-	10	2077	c.2078C>A	c.(2077-2079)aCc>aAc	p.T693N	MSLNL_ENST00000442466.1_Missense_Mutation_p.T342N			Q96KJ4	MSLNL_HUMAN	mesothelin-like	342					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTGCAACAGGGTGTCCAGGTT	0.652000													20	42					4.96729e-08	6.31881e-08	1	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798776	55798776	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:55798776C>A	ENST00000313555.1	+	1	882	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	294					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)					GTTTCAGAAACAAGGATGTGA	0.328000													17	46					1.5739e-10	2.28469e-10	1	1	0
GPR98	84059	broad.mit.edu	37	5	89921017	89921017	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:89921017G>A	ENST00000405460.2	+	6	725	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	210	Calx-beta 2.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCCCCCTGGCAGAGCAACA	0.438000													6	18					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38964183	38964183	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:38964183C>A	ENST00000355481.4	+	28	4063	c.3932C>A	c.(3931-3933)cCt>cAt	p.P1311H	RYR1_ENST00000359596.3_Missense_Mutation_p.P1311H|RYR1_ENST00000360985.3_Missense_Mutation_p.P1311H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1311	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCGCTGGCACCTCCTGGCCTG	0.697000													8	19					0.000157383	0.000176505	1	1	0
SCAF1	58506	broad.mit.edu	37	19	50150037	50150037	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:50150037C>A	ENST00000360565.3	+	6	552	c.428C>A	c.(427-429)cCt>cAt	p.P143H		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	143					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		ATCCCTCTGCCTGTGCCCAGC	0.662000													9	17					0.0477658	0.0488513	1	1	0
RHOB	388	broad.mit.edu	37	2	20647632	20647632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:20647632C>T	ENST00000272233.4	+	1	798	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	136					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CCGCATGAAGCAGGAACCCGT	0.622000													13	89					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28544322	28544322	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:28544322G>A	ENST00000545336.1	+	11	1159	c.740G>A	c.(739-741)tGt>tAt	p.C247Y	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Intron|CCDC91_ENST00000306172.5_Missense_Mutation_p.C217Y|CCDC91_ENST00000381259.1_Missense_Mutation_p.C247Y|CCDC91_ENST00000539107.1_Intron			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	247	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GCACACAAGTGTGAGGAGTTG	0.378000													19	46					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113679026	113679026	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr13:113679026G>T	ENST00000397030.1	+	3	368	c.331G>T	c.(331-333)Gac>Tac	p.D111Y	MCF2L_ENST00000442652.2_Missense_Mutation_p.D108Y|MCF2L_ENST00000375601.3_Missense_Mutation_p.D82Y|MCF2L_ENST00000397024.1_Missense_Mutation_p.D76Y|MCF2L_ENST00000375597.4_Missense_Mutation_p.D76Y|MCF2L_ENST00000421756.1_Missense_Mutation_p.D82Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.D135Y|MCF2L_ENST00000423482.2_Missense_Mutation_p.D76Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.D84Y|MCF2L_ENST00000375608.3_Missense_Mutation_p.D108Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.D78Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	108	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGAGATTCCGGACAAGGAGTT	0.617000													13	39					1.5842e-08	2.09674e-08	1	1	0
NOTCH4	4855	broad.mit.edu	37	6	32180372	32180372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:32180372G>T	ENST00000375023.3	-	17	2697	c.2559C>A	c.(2557-2559)tgC>tgA	p.C853*	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	853	EGF-like 22.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AATTGCGTGGGCAGGGCTTCT	0.612000													17	81					2.23348e-06	2.66243e-06	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168101461	168101461	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:168101461C>A	ENST00000409195.1	+	9	3648	c.3559C>A	c.(3559-3561)Cct>Act	p.P1187T	XIRP2_ENST00000295237.9_Missense_Mutation_p.P1187T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P965T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1012					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAAATCAAGCCTGTTGAAAT	0.383000													16	37					1.3612e-06	1.64441e-06	1	1	0
MAP2K6	5608	broad.mit.edu	37	17	67521099	67521099	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:67521099T>A	ENST00000590474.1	+	9	1008	c.721T>A	c.(721-723)Tgg>Agg	p.W241R	MAP2K6_ENST00000589647.1_Missense_Mutation_p.W185R	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	241	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GTCTGACATTTGGAGTCTGGG	0.438000													5	53					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901019	51901019	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:51901019C>A	ENST00000268919.4	+	1	781	c.625C>A	c.(625-627)Ccg>Acg	p.P209T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	209					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTGGAGCCCCCGCAAGAACA	0.542000													16	44					2.31682e-05	2.68185e-05	1	1	0
KRT3	3850	broad.mit.edu	37	12	53189302	53189302	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:53189302G>T	ENST00000417996.2	-	1	599	c.525C>A	c.(523-525)atC>atA	p.I175I	KRT3_ENST00000309505.3_Silent_p.I175I	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	175	Head.			I -> T (in Ref. 1; CAA28991).	epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GACTCTGGTTGATAGTCACTT	0.582000													7	27					2.0095e-06	2.4114e-06	1	1	0
CAPN13	92291	broad.mit.edu	37	2	30957344	30957344	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:30957344G>C	ENST00000295055.8	-	19	1945	c.1769C>G	c.(1768-1770)tCg>tGg	p.S590W	CAPN13_ENST00000534090.2_Missense_Mutation_p.S590W	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	590					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCACAAGTCCGAGCTCAGGAG	0.542000													6	18					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585449	70585449	+	Missense_Mutation	SNP	A	A	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:70585449A>C	ENST00000260126.3	-	10	2908	c.2202T>G	c.(2200-2202)ttT>ttG	p.F734L	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.F679L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	734						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACACAAAACGAAACGACGTCA	0.468000													27	145					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160913883	160913883	+	RNA	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:160913883G>A	ENST00000335388.5	-	0	437					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TCCCTTCATCGTCTGAGCACC	0.522000													13	119					0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2223814	2223814	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr16:2223814G>T	ENST00000326181.6	+	12	1244	c.1112G>T	c.(1111-1113)cGg>cTg	p.R371L		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	371					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						ATCAACGCGCGGCTGAACATG	0.701000													8	24					7.48243e-07	9.06961e-07	1	1	0
SPEM1	374768	broad.mit.edu	37	17	7323954	7323954	+	Silent	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:7323954C>T	ENST00000323675.3	+	2	178	c.153C>T	c.(151-153)agC>agT	p.S51S	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	51					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				AGCTCTGGAGCCGATTCCGTG	0.592000													9	39					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12123522	12123522	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:12123522A>T	ENST00000263035.4	+	2	268	c.206A>T	c.(205-207)aAa>aTa	p.K69I	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	69					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CATGGTCATAAAGCTGCCAAA	0.483000													33	105					0	0	1	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008666	142008666	+	RNA	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:142008666G>T	ENST00000390387.3	+	0	186																											ACAAAATCTGGGCCATGATAC	0.383000													17	55					1.99824e-07	2.47204e-07	1	1	0
CLIC6	54102	broad.mit.edu	37	21	36088776	36088776	+	Missense_Mutation	SNP	A	A	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr21:36088776A>C	ENST00000360731.3	+	7	2111	c.2111A>C	c.(2110-2112)aAa>aCa	p.K704T	CLIC6_ENST00000349499.2_Missense_Mutation_p.K686T			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	704	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						AAAAGAATGAAATGAAGCTGG	0.368000													15	45					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82875858	82875858	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:82875858C>A	ENST00000265077.3	+	14	10505	c.9940C>A	c.(9940-9942)Cgt>Agt	p.R3314S	VCAN_ENST00000502527.2_Missense_Mutation_p.R573S|VCAN_ENST00000512590.2_Missense_Mutation_p.R1512S|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.R2327S|VCAN_ENST00000342785.4_Missense_Mutation_p.R1560S|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3314	Sushi.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GATGAAACCTCGTTATGAAAT	0.423000													24	88					1.96895e-08	2.58694e-08	1	1	0
PCK1	5105	broad.mit.edu	37	20	56138196	56138196	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr20:56138196C>A	ENST00000319441.4	+	5	887	c.723C>A	c.(721-723)ctC>ctA	p.L241L	PCK1_ENST00000535860.1_Silent_p.L109L|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	241					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ACTCGCTGCTCGGGAAGAAGT	0.627000													17	115					4.75885e-15	7.85865e-15	1	1	0
TNS4	84951	broad.mit.edu	37	17	38636077	38636077	+	Silent	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:38636077G>A	ENST00000254051.6	-	10	1917	c.1759C>T	c.(1759-1761)Ctg>Ttg	p.L587L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	587	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACTGAGCTCAGGTACAGGGTG	0.667000													7	15					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623643	100623643	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:100623643C>A	ENST00000317233.4	-	5	689	c.454G>T	c.(454-456)Ggg>Tgg	p.G152W	AFF3_ENST00000409579.1_Missense_Mutation_p.G177W|AFF3_ENST00000409236.1_Missense_Mutation_p.G152W|AFF3_ENST00000356421.2_Missense_Mutation_p.G177W	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	152					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGTGGGTGCCCAGCCTTCTGC	0.522000													14	43					4.3838e-07	5.33165e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9090916	9090916	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:9090916A>T	ENST00000397910.4	-	1	1102	c.899T>A	c.(898-900)aTa>aAa	p.I300K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	300	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGAGAATATGCTGGTCTC	0.512000													12	72					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127767820	127767820	+	Silent	SNP	A	A	G	rs144655044		TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:127767820A>G	ENST00000483725.3	-	5	1980	c.1644T>C	c.(1642-1644)tcT>tcC	p.S548S	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	548							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCGGACGGCCAGACAAATTAC	0.468000													12	45					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233152808	233152808	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:233152808C>A	ENST00000258229.8	-	27	4932	c.4698G>T	c.(4696-4698)tgG>tgT	p.W1566C	PCNXL2_ENST00000344698.2_Missense_Mutation_p.W218C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1566						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAATGTAATGCCACTTGGCAA	0.448000													24	52					1.64293e-13	2.64043e-13	1	1	0
CACNA1I	8911	broad.mit.edu	37	22	40030583	40030583	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr22:40030583G>T	ENST00000336649.4	+	7	594	c.594G>T	c.(592-594)ctG>ctT	p.L198L	CACNA1I_ENST00000400164.3_Silent_p.L198L|CACNA1I_ENST00000402142.3_Silent_p.L198L|CACNA1I_ENST00000401624.1_Silent_p.L198L|CACNA1I_ENST00000404898.1_Silent_p.L198L|CACNA1I_ENST00000407673.1_Silent_p.L198L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	198					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGCGGATCCTGGTGAACCTGC	0.552000													25	109					7.92952e-12	1.18943e-11	1	1	0
LCA5	167691	broad.mit.edu	37	6	80202330	80202330	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:80202330T>A	ENST00000392959.1	-	6	1504	c.893A>T	c.(892-894)tAt>tTt	p.Y298F	LCA5_ENST00000369846.4_Missense_Mutation_p.Y298F|LCA5_ENST00000467898.2_Missense_Mutation_p.Y298F	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	298					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ACGATTAGAATATATATTTTT	0.318000													3	10					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806823	22806823	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr18:22806823G>T	ENST00000361524.3	-	4	1207	c.1059C>A	c.(1057-1059)tcC>tcA	p.S353S	ZNF521_ENST00000538137.2_Silent_p.S353S|ZNF521_ENST00000584787.1_Silent_p.S133S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	353					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TACTGGACACGGAGGTATAGC	0.572000			T	PAX5	ALL								18	38					6.94344e-10	9.88e-10	1	1	0
GABRA3	2556	broad.mit.edu	37	X	151376484	151376484	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chrX:151376484C>A	ENST00000370314.4	-	7	1005	c.767G>T	c.(766-768)cGg>cTg	p.R256L	GABRA3_ENST00000370311.1_Missense_Mutation_p.R256L|GABRA3_ENST00000535043.1_Missense_Mutation_p.R256L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	256					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTACTAGACCGGATTATCTC	0.398000													10	123					0.0692343	0.0706072	1	1	0
ZNF124	7678	broad.mit.edu	37	1	247320002	247320002	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:247320002G>A	ENST00000340684.6	-	4	874	c.736C>T	c.(736-738)Cat>Tat	p.H246Y	ZNF124_ENST00000543802.2_Missense_Mutation_p.H308Y|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTCCTTTCATGGTCACGAAGG	0.413000													12	84					0	0	1	0	0
APITD1	378708	broad.mit.edu	37	1	10502340	10502340	+	Missense_Mutation	SNP	A	A	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:10502340A>C	ENST00000309048.3	+	5	370	c.295A>C	c.(295-297)Aaa>Caa	p.K99Q	APITD1-CORT_ENST00000465026.1_Intron|APITD1_ENST00000602787.1_Intron|APITD1_ENST00000462462.1_3'UTR|APITD1-CORT_ENST00000400900.2_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000470413.2_Intron	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1			apoptosis-inducing, TAF9-like domain 1											kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CATCACAGACAAAAGTGAAGA	0.348000													6	38					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146121371	146121371	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:146121371G>T	ENST00000237281.4	-	3	2275	c.2109C>A	c.(2107-2109)caC>caA	p.H703Q		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	703							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATTTCTTCAAGTGGTCTGCCA	0.398000													15	88					6.31663e-08	8.00699e-08	1	1	0
IGSF22	283284	broad.mit.edu	37	11	18731206	18731206	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:18731206A>T	ENST00000513874.1	-	18	2865	c.2726T>A	c.(2725-2727)cTg>cAg	p.L909Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	808										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AGATACATGCAGGTCCTGGAC	0.567000													8	24					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10309685	10309685	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:10309685G>C	ENST00000403437.2	-	20	2295	c.2201C>G	c.(2200-2202)cCa>cGa	p.P734R	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	734	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						CTGTCCCTCTGGAATAGCACT	0.353000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				14	90					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027050	55027050	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr20:55027050C>A	ENST00000371336.3	+	5	1019	c.818C>A	c.(817-819)cCc>cAc	p.P273H	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.P273H	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	273					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.P273N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CACGCTCTCCCCAGTTCCAGC	0.517000													7	39					1.06961e-07	1.34167e-07	1	1	0
PLAGL2	5326	broad.mit.edu	37	20	30784959	30784959	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr20:30784959T>A	ENST00000246229.4	-	3	1051	c.787A>T	c.(787-789)Agc>Tgc	p.S263C		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACTGTGGAGCTGCAGCTGAGT	0.587000													19	43					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61254046	61254046	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:61254046C>A	ENST00000338608.2	+	9	923	c.798C>A	c.(796-798)gcC>gcA	p.A266A	PPP1R32_ENST00000432063.2_Silent_p.A246A	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	266																	GGGAAACAGCCTTCAGCCGAG	0.587000													5	27					0.014758	0.0155347	1	1	0
EPB41L2	2037	broad.mit.edu	37	6	131215508	131215508	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:131215508C>A	ENST00000337057.3	-	10	1644	c.1463G>T	c.(1462-1464)tGc>tTc	p.C488F	EPB41L2_ENST00000527659.1_Missense_Mutation_p.C488F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.C488F|EPB41L2_ENST00000392427.3_Missense_Mutation_p.C488F|EPB41L2_ENST00000525271.1_Missense_Mutation_p.C488F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.C488F|EPB41L2_ENST00000530481.1_Missense_Mutation_p.C488F|EPB41L2_ENST00000525193.1_Missense_Mutation_p.C488F|EPB41L2_ENST00000529208.1_Missense_Mutation_p.C488F|EPB41L2_ENST00000368128.2_Missense_Mutation_p.C488F|EPB41L2_ENST00000528282.1_Missense_Mutation_p.C488F	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	488	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATGCTCCACGCACACTTTCCA	0.468000													31	94					9.65021e-13	1.52372e-12	1	1	0
PHLPP2	23035	broad.mit.edu	37	16	71692263	71692263	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr16:71692263C>T	ENST00000393524.2	-	13	2684	c.1951G>A	c.(1951-1953)Gta>Ata	p.V651I	PHLPP2_ENST00000567016.1_Missense_Mutation_p.V753I|PHLPP2_ENST00000360429.3_Missense_Mutation_p.V718I|PHLPP2_ENST00000568954.1_Missense_Mutation_p.V718I|PHLPP2_ENST00000540628.1_5'UTR|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000356272.3_Missense_Mutation_p.V718I			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	718						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTTAGGTCTACAAACTAAGAA	0.383000													13	31					0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067011	46067011	+	Silent	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr21:46067011C>T	ENST00000334670.8	+	1	681	c.636C>T	c.(634-636)tcC>tcT	p.S212S	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	206	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CTAGGGCTTCCTCTTCACGCT	0.632000													11	198					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521309	131521309	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:131521309G>C	ENST00000423981.1	+	2	1774	c.1664G>C	c.(1663-1665)gGg>gCg	p.G555A	AMER3_ENST00000321420.4_Missense_Mutation_p.G555A	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TCAGATGCAGGGGGGGCGACA	0.716000													8	9					0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39433404	39433404	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr3:39433404G>T	ENST00000273158.4	+	5	894	c.517G>T	c.(517-519)Ggg>Tgg	p.G173W		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	173					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCACAGTGAGGGGCACCGGGG	0.517000													14	48					1.5842e-08	2.09674e-08	1	1	0
DEPDC1	55635	broad.mit.edu	37	1	68943530	68943530	+	Silent	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:68943530T>C	ENST00000456315.2	-	11	2352	c.2238A>G	c.(2236-2238)ttA>ttG	p.L746L	DEPDC1_ENST00000370966.5_Silent_p.L462L	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	746					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TAATATTTTCTAAAAGTTCTG	0.338000													20	119					0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105406068	105406068	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:105406068G>T	ENST00000345080.4	+	2	308	c.105G>T	c.(103-105)aaG>aaT	p.K35N		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	35	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				GCCACTGTAAGTGGTTCAATG	0.547000													25	68					2.21704e-12	3.41082e-12	1	1	0
OR2G3	81469	broad.mit.edu	37	1	247769718	247769718	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:247769718C>A	ENST00000320002.2	+	1	863	c.831C>A	c.(829-831)ttC>ttA	p.F277L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTCCCTCTTCTACACCATGG	0.428000													26	36					4.26978e-12	6.48574e-12	1	1	0
SORL1	6653	broad.mit.edu	37	11	121440977	121440977	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:121440977G>C	ENST00000260197.7	+	23	3464	c.3335G>C	c.(3334-3336)tGc>tCc	p.C1112S	SORL1_ENST00000525532.1_Missense_Mutation_p.C56S	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1112	LDL-receptor class A 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAGAGAAACTGCCGTGAGTCT	0.532000													17	42					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298434	36298434	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:36298434C>T	ENST00000437635.2	-	2	211	c.34G>A	c.(34-36)Gcg>Acg	p.A12T		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	12										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TTCTTCTCCGCCAGGGGCCTC	0.567000													7	50					0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150460262	150460262	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr3:150460262C>A	ENST00000312960.3	-	2	1168	c.641G>T	c.(640-642)gGg>gTg	p.G214V		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	214	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCGACAGCCCCTGGCAAGTT	0.507000													20	43					2.4624e-09	3.40947e-09	1	1	0
GRM3	2913	broad.mit.edu	37	7	86394908	86394908	+	Silent	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:86394908T>C	ENST00000361669.2	+	2	1546	c.447T>C	c.(445-447)tcT>tcC	p.S149S	GRM3_ENST00000394720.2_Silent_p.S147S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.S149S|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	149					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTGGTGGCTCTTATAGCAGTG	0.403000													22	70					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942452	6942452	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:6942452C>A	ENST00000317834.3	+	1	248	c.220C>A	c.(220-222)Ccc>Acc	p.P74T		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTTCACACTCCCATGTATTT	0.413000													23	102					2.21704e-12	3.41082e-12	1	1	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726867	32726867	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:32726867G>A	ENST00000435145.2	-	3	467	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.L136F|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.L136F			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	136					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGGTGGTTGAGGGCCTCTGTC	0.557000													7	50					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900489	123900489	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:123900489C>T	ENST00000431524.1	+	1	193	c.160C>T	c.(160-162)Cac>Tac	p.H54Y		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTCTCACCTCCACACCACCAT	0.542000													35	131					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128861575	128861575	+	Silent	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:128861575A>T	ENST00000375990.3	+	3	595	c.192A>T	c.(190-192)tcA>tcT	p.S64S	UGGT1_ENST00000259253.6_Silent_p.S88S			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	88					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATATTGGATCATCAGATCATG	0.343000													24	42					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134526226	134526226	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr9:134526226C>T	ENST00000372195.1	-	2	415	c.172G>A	c.(172-174)Gta>Ata	p.V58I	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.V41I|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.V59I			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	41					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			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)		GGAATCTTTACGGACACCTCA	0.453000													9	125					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55233129	55233129	+	Splice_Site	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:55233129G>T	ENST00000275493.2	+	15	2056	c.1880_splice	c.e15+1	p.G627_splice	EGFR_ENST00000454757.2_Splice_Site_p.G574_splice|EGFR_ENST00000342916.3_Splice_Site_p.G627_splice|EGFR_ENST00000344576.2_Splice_Site_p.G627_splice|EGFR_ENST00000455089.1_Splice_Site_p.G582_splice|EGFR_ENST00000442591.1_Splice_Site_p.G627_splice	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	627					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTGCACCTACGGGTGAGTGGA	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			4	38					0.00024832	0.000276765	1	1	0
SPATA17	128153	broad.mit.edu	37	1	217822286	217822286	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:217822286G>A	ENST00000366933.4	+	2	186	c.131G>A	c.(130-132)cGa>cAa	p.R44Q		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	44	IQ 1.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGCTGGTTTCGAGGATGTCAA	0.303000													8	99					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30706378	30706378	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:30706378T>A	ENST00000256246.2	-	1	230	c.156A>T	c.(154-156)agA>agT	p.R52S	TEX15_ENST00000523186.1_5'UTR	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	52										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCCTCATCAGTCTTGGGTCTT	0.363000													22	123					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8862089	8862089	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr16:8862089G>A	ENST00000396600.2	+	10	1581	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	ABAT_ENST00000425191.2_Missense_Mutation_p.G215S|ABAT_ENST00000268251.8_Missense_Mutation_p.G215S|ABAT_ENST00000569156.1_Missense_Mutation_p.G215S|ABAT_ENST00000567812.1_Missense_Mutation_p.G230S	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	215					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTCCTTCATGGGCGCGTTCCA	0.507000													11	31					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9792737	9792737	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:9792737C>G	ENST00000262441.5	+	13	1890	c.1377C>G	c.(1375-1377)caC>caG	p.H459Q	GLP2R_ENST00000574745.1_Missense_Mutation_p.H279Q	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	459					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TAGCCCGCCACTCAGGCTGCA	0.562000													8	38					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393474	154393474	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:154393474C>A	ENST00000435029.4	+	1	215	c.55C>A	c.(55-57)Ctg>Atg	p.L19M		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	19	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGTCGCCCTCTGGTCCCCAA	0.532000													12	57					5.16669e-11	7.62298e-11	1	1	0
BRIP1	83990	broad.mit.edu	37	17	59760758	59760758	+	Missense_Mutation	SNP	A	A	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:59760758A>C	ENST00000259008.2	-	20	3916	c.3649T>G	c.(3649-3651)Tgg>Ggg	p.W1217G		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1217					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCATTTATCCAAGTTGTTTTT	0.313000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					4	60					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8465638	8465638	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr9:8465638C>T	ENST00000381196.4	-	29	4085	c.3542G>A	c.(3541-3543)cGt>cAt	p.R1181H	PTPRD_ENST00000540109.1_Missense_Mutation_p.R1181H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R770H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1168H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1159H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1181H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R770H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R760H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R767H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R760H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R767H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1181		Cleavage (Probable).			transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTCCCATAACGGATGCTTCT	0.403000										TSP Lung(15;0.13)			10	94					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409949	159409949	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:159409949A>T	ENST00000423932.3	+	1	438	c.401A>T	c.(400-402)tAt>tTt	p.Y134F	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	134					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TATGACCGCTATGTGGCCATC	0.498000													34	122					0	0	1	0	0
PIGC	5279	broad.mit.edu	37	1	172411686	172411686	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:172411686T>C	ENST00000367728.1	-	1	1540	c.77A>G	c.(76-78)gAt>gGt	p.D26G	PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.D26G|PIGC_ENST00000258324.1_Missense_Mutation_p.D26G			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	26					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CACATAGTTATCAGGAAAGGG	0.478000													37	99					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63084882	63084882	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr15:63084882G>T	ENST00000561311.1	+	45	6009	c.5779G>T	c.(5779-5781)Ggc>Tgc	p.G1927C	TLN2_ENST00000306829.6_Missense_Mutation_p.G1927C			Q9Y4G6	TLN2_HUMAN	talin 2	1927					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTGGGCCACGGCTGTATCTT	0.622000													5	34					0.014758	0.0155347	1	1	0
IQGAP2	10788	broad.mit.edu	37	5	75757421	75757421	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:75757421G>A	ENST00000274364.6	+	2	370	c.73G>A	c.(73-75)Gca>Aca	p.A25T	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	25					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGGCTCTCTGCAGAGGAGAT	0.413000													9	47					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256619	63256619	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:63256619C>T	ENST00000323865.3	-	1	1161	c.928G>A	c.(928-930)Gag>Aag	p.E310K	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	310					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GGACCAGCCTCGCTGGGCAGA	0.647000													8	49					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86125278	86125278	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr15:86125278G>T	ENST00000394518.2	+	7	4074	c.3979G>T	c.(3979-3981)Gct>Tct	p.A1327S	AKAP13_ENST00000361243.2_Missense_Mutation_p.A1327S	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1327					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGGATGTTTTGCTGGAAGGGA	0.498000													6	40					0.0215528	0.0225552	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059024	248059024	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:248059024A>T	ENST00000537741.1	+	3	393	c.136A>T	c.(136-138)Atc>Ttc	p.I46F	OR2W3_ENST00000360358.3_Missense_Mutation_p.I46F			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACCACCATCATCCTGGTGTC	0.587000													45	76					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110085739	110085739	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:110085739C>T	ENST00000527748.1	+	2	778	c.95C>T	c.(94-96)cCg>cTg	p.P32L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	32						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGTGGGGTCCCGGAGGTGGGG	0.617000													4	36					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617835	100617835	+	Silent	SNP	G	G	A	rs148340592	byFrequency	TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr13:100617835G>A	ENST00000267294.4	-	2	2021	c.1788C>T	c.(1786-1788)ggC>ggT	p.G596G		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	596					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACAAGGGGGCGCCCACTGGAG	0.602000													11	95					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069324	6069324	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chrX:6069324A>T	ENST00000381095.3	-	2	811	c.184T>A	c.(184-186)Tta>Ata	p.L62I	NLGN4X_ENST00000381092.1_Missense_Mutation_p.L62I|NLGN4X_ENST00000275857.6_Missense_Mutation_p.L62I|NLGN4X_ENST00000538097.1_Missense_Mutation_p.L62I|NLGN4X_ENST00000381093.2_Missense_Mutation_p.L62I|NLGN4X_ENST00000469740.1_5'UTR	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	62					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCATTGGGTAACGGTGTTCTT	0.537000													26	59					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422306	47422306	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:47422306T>C	ENST00000404338.3	+	1	374	c.374T>C	c.(373-375)cTt>cCt	p.L125P		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	125					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GCGACCAAGCTTGCATCAGCT	0.488000													9	90					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929334	119929334	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:119929334G>T	ENST00000361035.4	+	6	973	c.690G>T	c.(688-690)ttG>ttT	p.L230F	HAO2_ENST00000325945.3_Missense_Mutation_p.L217F	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	217	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TAACTCGATTGCCCATCATCC	0.448000													12	71					5.16669e-11	7.62298e-11	1	1	0
PGA5	5222	broad.mit.edu	37	11	61017165	61017165	+	Silent	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:61017165C>T	ENST00000312403.5	+	7	983	c.798C>T	c.(796-798)atC>atT	p.I266I	PGA5_ENST00000541528.1_Silent_p.I6I|PGA4_ENST00000422676.2_Silent_p.I266I|PGA5_ENST00000451616.2_Silent_p.I112I	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	266					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						GAGAGACCATCGCCTGTGCTG	0.597000													18	157					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942791	11942791	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:11942791G>T	ENST00000304060.5	+	4	964	c.800G>T	c.(799-801)aGt>aTt	p.S267I		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCATTTCATAGTCCCAGATCC	0.403000													26	67					4.7796e-09	6.49305e-09	1	1	0
TUBB8	347688	broad.mit.edu	37	10	93863	93863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:93863C>A	ENST00000447903.2	-	4	568	c.253G>T	c.(253-255)Gag>Tag	p.E85*	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Nonsense_Mutation_p.E157*|TUBB8_ENST00000332708.5_3'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	157					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGGTACTCCTCCCGGATCTTA	0.607000													14	103					1.05317e-09	1.49268e-09	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13862727	13862727	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:13862727C>G	ENST00000265104.4	-	29	4830	c.4726G>C	c.(4726-4728)Gac>Cac	p.D1576H	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1576	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGGTACTGTCTCCTCTCAAG	0.458000									Kartagener syndrome				8	68					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211393	78211393	+	RNA	SNP	A	A	T	rs28595390	by1000genomes	TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr15:78211393A>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CAGTCTCTCCAGCTCCCGCAC	0.597000													7	121					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77607127	77607127	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr3:77607127C>T	ENST00000461745.1	+	9	2164	c.1264C>T	c.(1264-1266)Caa>Taa	p.Q422*	ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q438*|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q422*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	422	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TATAATTCTACAAGGCCCAGC	0.418000													17	46					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83999435	83999435	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr16:83999435G>T	ENST00000343939.2	+	7	1889	c.1506G>T	c.(1504-1506)ccG>ccT	p.P502P	OSGIN1_ENST00000361711.3_Silent_p.P419P|OSGIN1_ENST00000393306.1_Silent_p.P419P			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	502					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CTGACCAGCCGCTGAGCGCCA	0.662000													8	40					3.09899e-07	3.78181e-07	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	100200323	100200323	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:100200323C>A	ENST00000547776.2	-	4	527	c.528G>T	c.(526-528)gtG>gtT	p.V176V	ANKS1B_ENST00000329257.7_Silent_p.V176V|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	176						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.V176V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCATTTTTACCACTCTAAGCC	0.498000													9	35					0.00621372	0.00661816	1	1	0
CDH12	1010	broad.mit.edu	37	5	21817240	21817240	+	Splice_Site	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:21817240G>T	ENST00000382254.1	-	9	1902	c.814_splice	c.e9-1	p.S272_splice	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Splice_Site_p.S272_splice|CDH12_ENST00000522262.1_Splice_Site_p.S232_splice	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	272	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGTGGAAGATGCCTGATAAGA	0.358000										HNSCC(59;0.17)			17	55					1.15088e-07	1.43362e-07	1	1	0
ANGPTL3	27329	broad.mit.edu	37	1	63069642	63069642	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:63069642G>A	ENST00000371129.3	+	6	1014	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	312	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						CTTTTCAGGAGAATTTTGGTT	0.318000													12	38					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284290	159284290	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:159284290G>T	ENST00000332217.5	-	1	159	c.160C>A	c.(160-162)Cat>Aat	p.H54N		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TGAAGATGATGGTCCAGGCGA	0.473000													26	147					1.55469e-16	2.61537e-16	1	1	0
MEF2D	4209	broad.mit.edu	37	1	156437799	156437799	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:156437799G>A	ENST00000348159.4	-	11	2020	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000353795.3_Missense_Mutation_p.R468W|MEF2D_ENST00000368240.2_Missense_Mutation_p.R507W|MEF2D_ENST00000340875.5_Missense_Mutation_p.R513W|MEF2D_ENST00000360595.3_Missense_Mutation_p.R507W	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	514					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTATCAAGCCGCATCCTCTTC	0.637000													8	55					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27333021	27333021	+	Missense_Mutation	SNP	T	T	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr3:27333021T>G	ENST00000429845.2	-	18	1792	c.1430A>C	c.(1429-1431)gAt>gCt	p.D477A	NEK10_ENST00000341435.5_Missense_Mutation_p.D477A			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	477							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCACTGATATCACGTACATA	0.373000													5	41					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115998155	115998155	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr4:115998155G>A	ENST00000264363.2	-	2	716	c.38C>T	c.(37-39)aCa>aTa	p.T13I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	13						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AACAATCAATGTTCGAAAACT	0.348000													8	24					0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20354812	20354812	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:20354812G>T	ENST00000423676.3	-	10	969	c.906C>A	c.(904-906)gtC>gtA	p.V302V	LGALS9B_ENST00000324290.5_Silent_p.V301V			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	302	Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						TCTGGCCTCGGACGAAGGGCA	0.587000													5	17					0.00116845	0.00127467	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158592983	158592983	+	Splice_Site	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:158592983C>A	ENST00000368148.3	-	43	6091		c.e43-1		SPTA1_ENST00000368147.3_Splice_Site|SPTA1_ENST00000461624.1_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGAGTGTCCTGAGAAAGAT	0.468000													107	164					1.15724e-44	2.01259e-44	1	1	0
BCL11A	53335	broad.mit.edu	37	2	60688406	60688406	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:60688406C>T	ENST00000335712.6	-	4	1868	c.1641G>A	c.(1639-1641)atG>atA	p.M547I	BCL11A_ENST00000356842.4_Missense_Mutation_p.M547I|BCL11A_ENST00000358510.4_Missense_Mutation_p.M513I|BCL11A_ENST00000537768.1_Missense_Mutation_p.M216I|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.M513I	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	547					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCATGCCCTGCATGACGTCGG	0.721000			T	IGH@	B-CLL								12	26					0	0	1	0	0
TFDP1	7027	broad.mit.edu	37	13	114292079	114292079	+	Missense_Mutation	SNP	G	G	T	rs41288608	byFrequency	TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr13:114292079G>T	ENST00000544902.1	+	10	1248	c.866G>T	c.(865-867)cGt>cTt	p.R289L	TFDP1_ENST00000375370.5_Intron|TFDP1_ENST00000538138.1_Intron			Q14186	TFDP1_HUMAN	transcription factor Dp-1	358	DCB2.|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTGCCTGTGCGTCTTGTGTTG	0.493000										TSP Lung(29;0.18)			3	26					0.115264	0.115585	1	1	0
UBTD1	80019	broad.mit.edu	37	10	99327766	99327766	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:99327766G>T	ENST00000370664.3	+	2	502	c.166G>T	c.(166-168)Gac>Tac	p.D56Y		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	56										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGAGTTCTGGGACACAGCGCC	0.622000													22	68					1.96292e-10	2.83796e-10	1	1	0
WNT10A	80326	broad.mit.edu	37	2	219755016	219755016	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:219755016G>T	ENST00000258411.3	+	3	1320	c.687G>T	c.(685-687)ctG>ctT	p.L229L		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	229					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGACTTTCTGGACTCCCGGG	0.637000													11	29					3.07112e-06	3.64885e-06	1	1	0
SALL3	27164	broad.mit.edu	37	18	76752652	76752652	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr18:76752652C>A	ENST00000536229.3	+	1	971	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	SALL3_ENST00000537592.2_Missense_Mutation_p.Q221K|SALL3_ENST00000575389.2_Missense_Mutation_p.Q221K			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCACCAGCTGCAGCTCATCGA	0.741000													2	1					0.00909568	0.00965913	1	1	0
PCLO	27445	broad.mit.edu	37	7	82584611	82584611	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:82584611C>A	ENST00000423517.2	-	5	5995	c.5658G>T	c.(5656-5658)ttG>ttT	p.L1886F	PCLO_ENST00000333891.8_Missense_Mutation_p.L1886F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1817					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGCTGTGGGCAATTTATAAA	0.368000													14	39					4.36969e-10	6.24242e-10	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41587940	41587940	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:41587940G>A	ENST00000402685.2	+	3	801	c.793G>A	c.(793-795)Gga>Aga	p.G265R		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	265	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTTAGAAAATGGACCTGCTGA	0.338000													8	29					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79118535	79118535	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr9:79118535G>T	ENST00000442371.1	+	3	2177	c.1238G>T	c.(1237-1239)tGt>tTt	p.C413F	GCNT1_ENST00000376730.4_Missense_Mutation_p.C413F|GCNT1_ENST00000536223.1_Missense_Mutation_p.C413F|GCNT1_ENST00000444201.2_Missense_Mutation_p.C413F	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	413	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GCCATCCAGTGTTTGGATGAG	0.433000													24	93					4.26978e-12	6.48574e-12	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059023	248059023	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:248059023C>A	ENST00000537741.1	+	3	392	c.135C>A	c.(133-135)atC>atA	p.I45I	OR2W3_ENST00000360358.3_Silent_p.I45I			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I45M(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACACCACCATCATCCTGGTGT	0.582000													45	76					1.89013e-27	3.27137e-27	1	1	0
NOTCH4	4855	broad.mit.edu	37	6	32166772	32166772	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:32166772C>T	ENST00000375023.3	-	24	4604	c.4466G>A	c.(4465-4467)cGa>cAa	p.R1489Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1489					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCGAGGCCGTCGAGTGAAACC	0.637000													25	105					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83634783	83634783	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:83634783T>C	ENST00000265362.3	-	11	1546	c.1232A>G	c.(1231-1233)aAt>aGt	p.N411S	SEMA3A_ENST00000436949.1_Missense_Mutation_p.N411S	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	411	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AAACACTGGATTGTACATGGC	0.393000													22	76					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165827040	165827040	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:165827040G>T	ENST00000366882.1	-	14	1351	c.1197C>A	c.(1195-1197)aaC>aaA	p.N399K	PDE10A_ENST00000354448.4_Missense_Mutation_p.N399K|PDE10A_ENST00000539869.2_Missense_Mutation_p.N409K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	399	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTTTGAAGTTGTTTTCATCTG	0.393000													21	52					0.00188189	0.00204677	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113163220	113163220	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr9:113163220T>C	ENST00000401783.2	-	40	10072	c.9736A>G	c.(9736-9738)Agt>Ggt	p.S3246G	SVEP1_ENST00000374469.1_Missense_Mutation_p.S3223G|SVEP1_ENST00000297826.5_Missense_Mutation_p.S1172G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3246	Sushi 31.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGTTCTGGACTTTCAGGTTTC	0.408000													5	41					0	0	1	0	0
ZNF101	94039	broad.mit.edu	37	19	19790026	19790026	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:19790026G>T	ENST00000592502.1	+	4	338	c.228G>T	c.(226-228)ggG>ggT	p.G76G	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_5'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GTAAAGAAGGGAATGAACACA	0.398000													13	56					2.27111e-07	2.8e-07	1	1	0
C5orf20	140947	broad.mit.edu	37	5	134782290	134782290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:134782290G>T	ENST00000503143.2	-	1	748	c.509C>A	c.(508-510)tCa>tAa	p.S170*	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	170	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGAAAAATGAAGTCTCGGA	0.493000													8	65					0.000157383	0.000176505	1	1	0
OR51G2	81282	broad.mit.edu	37	11	4936312	4936312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:4936312A>T	ENST00000322013.3	-	1	610	c.582T>A	c.(580-582)tgT>tgA	p.C194*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCATGTCGGCACAGGCCAATT	0.453000													10	43					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177277	89177277	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chrX:89177277C>A	ENST00000561129.2	+	1	323	c.193C>A	c.(193-195)Ctc>Atc	p.L65I	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.L65I			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	65						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CGTTAAGATCCTCCGCGACTG	0.463000													47	48					8.28887e-21	1.41421e-20	1	1	0
SCIMP	388325	broad.mit.edu	37	17	5118220	5118220	+	Splice_Site	SNP	A	A	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:5118220A>G	ENST00000574081.1	-	4	387	c.283_splice	c.e4+1	p.S95_splice	RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000571800.1_Splice_Site_p.Y88_splice|SCIMP_ENST00000574297.1_Splice_Site_p.Y95_splice|SCIMP_ENST00000399600.4_Splice_Site_p.S88_splice	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN	SLP adaptor and CSK interacting membrane protein	95						integral to membrane											ATATACTTACAAGAGTCTTCT	0.368000													14	55					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574374	28574374	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:28574374G>A	ENST00000220562.4	+	3	1700	c.798G>A	c.(796-798)tgG>tgA	p.W266*	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	266						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGCCACACTGGCGGACGGATG	0.547000													16	58					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678509	88678509	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr15:88678509G>A	ENST00000394480.1	-	10	1348	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	NTRK3_ENST00000557856.1_Missense_Mutation_p.R343W|NTRK3_ENST00000558676.1_Missense_Mutation_p.R343W|NTRK3_ENST00000542733.2_Missense_Mutation_p.R245W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R343W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R343W|NTRK3_ENST00000540489.2_Missense_Mutation_p.R343W|NTRK3_ENST00000360948.2_Missense_Mutation_p.R343W|NTRK3_ENST00000317501.3_Missense_Mutation_p.R343W	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	343	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGACTCCCGCAGAGGCTGC	0.582000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			8	54					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80715700	80715700	+	Splice_Site	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:80715700G>T	ENST00000509894.1	+	2	968		c.e2+1		TTK_ENST00000369798.2_Splice_Site|TTK_ENST00000230510.3_Splice_Site			P33981	TTK_HUMAN	TTK protein kinase						mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GATACTACAGGTGAGTTTTTC	0.279000													13	68					1.5842e-08	2.09674e-08	1	1	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	52					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70148356	70148356	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr4:70148356C>G	ENST00000335568.5	+	2	848	c.846C>G	c.(844-846)tgC>tgG	p.C282W	UGT2B28_ENST00000511240.1_Missense_Mutation_p.C282W	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	282					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GACTCCACTGCAAACCTGCCA	0.398000													50	172					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135153498	135153498	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr9:135153498G>C	ENST00000372169.2	-	21	6983	c.6801C>G	c.(6799-6801)ttC>ttG	p.F2267L	SETX_ENST00000224140.5_Missense_Mutation_p.F2267L|SETX_ENST00000393220.1_Missense_Mutation_p.F2267L			Q7Z333	SETX_HUMAN	senataxin	2267					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATTAGAAGGGAAGAGGCATA	0.388000													21	89					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30730812	30730812	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr20:30730812A>T	ENST00000217315.5	+	6	845	c.505A>T	c.(505-507)Atc>Ttc	p.I169F	TM9SF4_ENST00000398022.2_Missense_Mutation_p.I186F			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	186						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTCTCATTCATCCTTTACTA	0.522000													22	39					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46407071	46407071	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:46407071G>A	ENST00000433765.2	-	1	1036	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	346					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TGTCTGCTTCGTCACAATCTG	0.662000													7	176					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50903056	50903056	+	Missense_Mutation	SNP	A	A	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr22:50903056A>G	ENST00000380817.2	-	14	1726	c.1543T>C	c.(1543-1545)Tgg>Cgg	p.W515R	SBF1_ENST00000348911.6_Missense_Mutation_p.W516R|SBF1_ENST00000390679.3_Missense_Mutation_p.W515R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	515					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCCACGATCCACTGCACGGTG	0.687000													20	52					0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81279173	81279173	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr16:81279173G>T	ENST00000258168.2	+	2	619	c.158G>T	c.(157-159)gGc>gTc	p.G53V	BCMO1_ENST00000425577.2_Silent_p.R27R|BCMO1_ENST00000564552.1_Missense_Mutation_p.G53V	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	53					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGGTTCGACGGCCTTGCCCTG	0.567000													16	71					4.14922e-12	6.35625e-12	1	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762913	130762913	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:130762913C>T	ENST00000392429.1	+	2	3724	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	TMEM200A_ENST00000545622.1_Missense_Mutation_p.A449V|TMEM200A_ENST00000296978.3_Missense_Mutation_p.A449V	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	449						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCCCAAGTTGCCATCAAAAAG	0.393000													7	70					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175436469	175436469	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:175436469C>T	ENST00000392547.2	-	5	1163	c.1064G>A	c.(1063-1065)gGt>gAt	p.G355D	WIPF1_ENST00000392546.2_Missense_Mutation_p.G355D|WIPF1_ENST00000359761.3_Missense_Mutation_p.G355D|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.G355D|WIPF1_ENST00000409415.3_Missense_Mutation_p.G355D|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G355D	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	355	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AGGAAGAGGACCTGAACGTCC	0.607000													28	52					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94527333	94527333	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr14:94527333C>A	ENST00000330836.5	-	4	1454	c.1323G>T	c.(1321-1323)gtG>gtT	p.V441V	DDX24_ENST00000555054.1_Silent_p.V398V|DDX24_ENST00000544005.1_Silent_p.V191V	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	441	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GAGTAGCAACCACAATCTCAG	0.448000													18	94					2.94398e-08	3.82611e-08	1	1	0
TEX15	56154	broad.mit.edu	37	8	30706379	30706379	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:30706379C>A	ENST00000256246.2	-	1	229	c.155G>T	c.(154-156)aGa>aTa	p.R52I	TEX15_ENST00000523186.1_5'UTR	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	52										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCTCATCAGTCTTGGGTCTTT	0.363000													22	124					1.10513e-12	1.73733e-12	1	1	0
TRPM2	7226	broad.mit.edu	37	21	45821628	45821628	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr21:45821628G>C	ENST00000397928.1	+	16	2831	c.2386G>C	c.(2386-2388)Gtg>Ctg	p.V796L	TRPM2_ENST00000300481.9_Missense_Mutation_p.V776L|TRPM2_ENST00000397932.2_Missense_Mutation_p.V796L|TRPM2_ENST00000300482.5_Missense_Mutation_p.V796L|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	796						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CACCGCACCCGTGGTGGTCTT	0.647000													24	112					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41275985	41275985	+	Silent	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr15:41275985T>A	ENST00000361937.3	-	34	4636	c.4212A>T	c.(4210-4212)acA>acT	p.T1404T	INO80_ENST00000401393.3_Silent_p.T1404T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1404	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGACGGAGCCTGTTATGGATG	0.562000													6	25					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106224171	106224171	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chrX:106224171C>A	ENST00000355610.4	-	7	1160	c.886G>T	c.(886-888)Gcc>Tcc	p.A296S	MORC4_ENST00000255495.7_Missense_Mutation_p.A296S|MORC4_ENST00000535534.1_Missense_Mutation_p.A44S	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	296							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AGGCTCTTGGCAATCATCTGG	0.403000													35	106					7.11191e-15	1.1585e-14	1	1	0
RGS7	6000	broad.mit.edu	37	1	241261976	241261976	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:241261976G>T	ENST00000366565.1	-	3	546	c.165C>A	c.(163-165)agC>agA	p.S55R	RGS7_ENST00000366562.4_Missense_Mutation_p.S55R|RGS7_ENST00000366564.1_Missense_Mutation_p.S55R|RGS7_ENST00000401882.1_Missense_Mutation_p.S55R|RGS7_ENST00000348120.2_Missense_Mutation_p.S55R|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000407727.1_Missense_Mutation_p.S55R|RGS7_ENST00000331110.7_Missense_Mutation_p.S29R|RGS7_ENST00000366563.1_Missense_Mutation_p.S55R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	55	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CAGAGAAGACGCTAGGTATCT	0.383000													13	18					6.81908e-15	1.11585e-14	1	1	0
TSGA13	114960	broad.mit.edu	37	7	130364109	130364109	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:130364109C>A	ENST00000456951.1	-	6	1122	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	TSGA13_ENST00000356588.3_Missense_Mutation_p.D91Y			Q96PP4	TSG13_HUMAN	testis specific, 13	91								p.D91Y(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TTATCCTGGTCATACTGTGTT	0.443000													17	65					3.52763e-06	4.17746e-06	1	1	0
LSR	51599	broad.mit.edu	37	19	35758461	35758461	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:35758461A>T	ENST00000602122.1	+	8	2165	c.1678A>T	c.(1678-1680)Agg>Tgg	p.R560W	LSR_ENST00000347609.4_Missense_Mutation_p.R522W|LSR_ENST00000427250.1_Missense_Mutation_p.R424W|LSR_ENST00000361790.3_Missense_Mutation_p.R580W|LSR_ENST00000360798.3_Missense_Mutation_p.R512W|LSR_ENST00000354900.3_Missense_Mutation_p.R561W			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	580					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAACGGCTCCAGGTCCGGGGA	0.677000													7	12					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736290	12736290	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chrX:12736290T>A	ENST00000380682.1	+	16	3851	c.3345T>A	c.(3343-3345)ttT>ttA	p.F1115L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1115					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGAAAACCTTTCCAAGAGCTT	0.522000													54	109					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94344051	94344051	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr4:94344051G>A	ENST00000282020.4	+	10	1735	c.1477G>A	c.(1477-1479)Gat>Aat	p.D493N	GRID2_ENST00000510992.1_Missense_Mutation_p.D398N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	493					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CGTAGCACCGGATCACAAATA	0.403000													12	46					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510397	5510397	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:5510397G>A	ENST00000322641.5	+	1	483	c.461G>A	c.(460-462)cGt>cAt	p.R154H	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	154			R -> C (in dbSNP:rs7935144).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCTATTCCGTAGTGTGGCT	0.478000													55	161					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45212243	45212243	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr20:45212243C>A	ENST00000279027.4	-	9	1205	c.1187G>T	c.(1186-1188)aGg>aTg	p.R396M	SLC13A3_ENST00000290317.5_Missense_Mutation_p.R349M|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R349M|SLC13A3_ENST00000396360.1_Missense_Mutation_p.R314M|SLC13A3_ENST00000464518.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.R346M|SLC13A3_ENST00000435032.1_Missense_Mutation_p.G19C|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R314M	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	396						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GAGAGAGGGCCTTTGGGACGG	0.537000													8	28					5.18039e-06	6.11456e-06	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57181090	57181090	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr4:57181090C>A	ENST00000504228.1	+	6	1527	c.1422C>A	c.(1420-1422)gcC>gcA	p.A474A	KIAA1211_ENST00000541073.1_Silent_p.A467A|KIAA1211_ENST00000264229.6_Silent_p.A474A			Q6ZU35	K1211_HUMAN	KIAA1211	474	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCCAGGGGGCCGATCGTCCTG	0.632000													3	13					0.115264	0.115585	1	1	0
METAP1D	254042	broad.mit.edu	37	2	172942581	172942581	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:172942581T>C	ENST00000315796.4	+	7	1148	c.761T>C	c.(760-762)aTa>aCa	p.I254T	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	254					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						GGACATGGAATAGGATCTTAC	0.348000													9	56					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79240019	79240019	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr4:79240019G>T	ENST00000264895.6	+	18	2456	c.2016G>T	c.(2014-2016)ggG>ggT	p.G672G	FRAS1_ENST00000325942.6_Silent_p.G672G|FRAS1_ENST00000264899.6_Silent_p.G672G	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	672					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTGTACTGGGTGTAAGAAGC	0.512000													10	60					1.58986e-06	1.91422e-06	1	1	0
MUC16	94025	broad.mit.edu	37	19	8997162	8997162	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:8997162G>T	ENST00000397910.4	-	60	41237	c.41034C>A	c.(41032-41034)acC>acA	p.T13678T	MUC16_ENST00000380951.5_Silent_p.T319T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13680	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCAACACTGGTGCTCTTGA	0.572000													9	43					0.0477658	0.0488513	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157514637	157514637	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:157514637G>T	ENST00000361835.3	-	4	700	c.543C>A	c.(541-543)gtC>gtA	p.V181V	FCRL5_ENST00000368190.3_Silent_p.V181V|FCRL5_ENST00000356953.4_Silent_p.V181V|FCRL5_ENST00000368191.3_Silent_p.V96V|FCRL5_ENST00000368189.3_Silent_p.V181V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	181						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTTGGATTTTGACTGTATTGG	0.418000													16	135					2.32078e-09	3.2383e-09	1	1	0
ASTN1	460	broad.mit.edu	37	1	176934348	176934348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:176934348G>A	ENST00000367654.2	-	9	1586	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.R517*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.R517*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.R517*			O14525	ASTN1_HUMAN	astrotactin 1	525					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCAAAGCCTCGCTGAAATATT	0.413000													7	82					0	0	1	0	0
C14orf105	55195	broad.mit.edu	37	14	57960349	57960349	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr14:57960349C>A	ENST00000216445.3	-	1	221	c.85G>T	c.(85-87)Ggc>Tgc	p.G29C	C14orf105_ENST00000422976.2_Missense_Mutation_p.G29C|C14orf105_ENST00000534126.1_Missense_Mutation_p.G29C|C14orf105_ENST00000526336.1_Missense_Mutation_p.G29C	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	29										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCCACACGGCCAGCCGAGGGA	0.468000													21	36					1.50039e-11	2.24125e-11	1	1	0
UBE2G2	7327	broad.mit.edu	37	21	46191316	46191316	+	Silent	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr21:46191316G>A	ENST00000345496.2	-	6	744	c.474C>T	c.(472-474)atC>atT	p.I158I	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_Silent_p.I130I	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	158					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity	p.I158I(3)		breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		ACTTCTGGACGATCTGCTTGG	0.552000													9	94					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521310	131521310	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:131521310G>T	ENST00000423981.1	+	2	1775	c.1665G>T	c.(1663-1665)ggG>ggT	p.G555G	AMER3_ENST00000321420.4_Silent_p.G555G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CAGATGCAGGGGGGGCGACAG	0.711000													8	9					1.06961e-07	1.34167e-07	1	1	0
SLC24A3	57419	broad.mit.edu	37	20	19634777	19634777	+	Silent	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr20:19634777C>T	ENST00000328041.6	+	7	881	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	228						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCGCGCTCATCGTGGTGAGTC	0.537000													14	39					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43812539	43812539	+	Silent	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:43812539G>A	ENST00000372470.3	+	8	1284	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	MPL_ENST00000413998.2_Silent_p.S414S	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	414	Fibronectin type-III 2.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCACCCATCGTCCTGGGCAG	0.567000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						11	58					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44177164	44177164	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr4:44177164G>T	ENST00000360029.3	-	2	1348	c.1065C>A	c.(1063-1065)ctC>ctA	p.L355L		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	355						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGGAAGTGGAGAGCTCATTAC	0.458000										HNSCC(17;0.042)			5	55					9.86323e-18	1.66702e-17	1	1	0
STON2	85439	broad.mit.edu	37	14	81743347	81743347	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr14:81743347C>A	ENST00000555447.1	-	6	2720	c.2308G>T	c.(2308-2310)Ggc>Tgc	p.G770C	STON2_ENST00000267540.2_Missense_Mutation_p.G770C	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	770	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGCTCAGAGCCAGAAACACTA	0.507000													18	71					1.56452e-12	2.43822e-12	1	1	0
SLC35C2	51006	broad.mit.edu	37	20	44986344	44986344	+	Silent	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr20:44986344G>A	ENST00000372227.1	-	3	729	c.189C>T	c.(187-189)tcC>tcT	p.S63S	SLC35C2_ENST00000543605.1_Silent_p.S92S|SLC35C2_ENST00000317734.8_Silent_p.S63S|SLC35C2_ENST00000372230.5_Silent_p.S63S|SLC35C2_ENST00000243896.2_Silent_p.S63S|SLC35C2_ENST00000372229.1_Intron			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	63					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CCAGCGCCCTGGACAGGGCGG	0.622000													17	40					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27147768	27147768	+	Silent	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:27147768G>A	ENST00000396352.4	-	3	1297	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	HOXA3_ENST00000317201.2_Silent_p.F366F|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	366					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F366F(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGCCCCCCACGAAGACGGGGC	0.677000													4	18					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49934881	49934881	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:49934881G>T	ENST00000257981.6	+	2	536	c.276G>T	c.(274-276)gaG>gaT	p.E92D	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	92					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.E92D(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGCACAAGGAGTTCAAGGCTG	0.632000													4	30					0.150653	0.150653	1	1	0
TEX13A	56157	broad.mit.edu	37	X	104464799	104464799	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chrX:104464799C>A	ENST00000372578.3	-	2	394	c.283G>T	c.(283-285)Ggc>Tgc	p.G95C	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.G95C|TEX13A_ENST00000413579.1_Missense_Mutation_p.G95C|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	95						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TTGGCGAAGCCGTGCAGCCAC	0.637000													7	38					0.0293803	0.030481	1	1	0
MFSD6L	162387	broad.mit.edu	37	17	8702249	8702249	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:8702249G>A	ENST00000329805.4	-	1	418	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	64						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCACAGACGGGAGCCCAGAAG	0.642000													12	42					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590518	156590518	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:156590518C>A	ENST00000302938.4	-	2	853	c.758G>T	c.(757-759)aGc>aTc	p.S253I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	253	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCTGGAGTGCTCGTGGATGG	0.582000													5	76					1.23904e-05	1.43889e-05	1	1	0
HTRA3	94031	broad.mit.edu	37	4	8305914	8305914	+	Silent	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr4:8305914G>A	ENST00000307358.2	+	8	1308	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	368	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TTTCCAGCCTGGTGGATGAGC	0.582000													6	17					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110466	20110466	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:20110466G>C	ENST00000381569.1	-	3	1333	c.976C>G	c.(976-978)Cgc>Ggc	p.R326G	LZTS1_ENST00000265801.6_Missense_Mutation_p.R326G|LZTS1_ENST00000522290.1_Missense_Mutation_p.R326G			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	326					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCTGCGCGCGCTGGCTCTTC	0.682000													10	33					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	89028405	89028405	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:89028405C>A	ENST00000263321.5	+	5	1963	c.1461C>A	c.(1459-1461)gtC>gtA	p.V487V		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	487					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TAGGGGCCGTCCTCACTGCCC	0.527000													14	52					3.27435e-08	4.22497e-08	1	1	0
TH	7054	broad.mit.edu	37	11	2189762	2189762	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:2189762C>A	ENST00000381178.1	-	4	557	c.539G>T	c.(538-540)cGc>cTc	p.R180L	TH_ENST00000352909.3_Missense_Mutation_p.R149L|TH_ENST00000333684.5_Missense_Mutation_p.R153L|TH_ENST00000381175.1_Missense_Mutation_p.R176L	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	180					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TGACACCTGGCGCACACCACT	0.711000													4	17					0.00024832	0.000276765	1	1	0
EPHA7	2045	broad.mit.edu	37	6	94120262	94120262	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:94120262A>T	ENST00000369303.4	-	3	973	c.789T>A	c.(787-789)tgT>tgA	p.C263*	EPHA7_ENST00000369297.1_Nonsense_Mutation_p.C263*	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	263	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTTTGCAGATACATTTTCCAA	0.453000													16	53					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183772520	183772520	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr3:183772520G>T	ENST00000318351.1	+	2	113	c.79G>T	c.(79-81)Gct>Tct	p.A27S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	27						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AAGAGGCGACGCTTTTACCAT	0.507000													21	47					2.37509e-13	3.80015e-13	1	1	0
VANGL2	57216	broad.mit.edu	37	1	160389029	160389029	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:160389029G>T	ENST00000368061.2	+	4	904	c.430G>T	c.(430-432)Gcc>Tcc	p.A144S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	144					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGCGGGACGGCCTGCGAGGG	0.682000													7	75					0.0293803	0.030481	1	1	0
CLSTN3	9746	broad.mit.edu	37	12	7288872	7288872	+	Silent	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:7288872G>A	ENST00000537408.1	+	5	1387	c.849G>A	c.(847-849)gaG>gaA	p.E283E	CLSTN3_ENST00000266546.6_Silent_p.E271E			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	271					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TCCGCCTGGAGACCTGTGATG	0.572000													9	35					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616357	92616357	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:92616357C>A	ENST00000298047.6	+	23	12752	c.12735C>A	c.(12733-12735)tcC>tcA	p.S4245S	FAT3_ENST00000409404.2_Silent_p.S4245S|FAT3_ENST00000533797.1_Silent_p.S580S|FAT3_ENST00000525166.1_Silent_p.S4095S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4245					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGTGACTCCAGGAGCAACC	0.677000										TCGA Ovarian(4;0.039)			18	104					2.94398e-08	3.82611e-08	1	1	0
MYH14	79784	broad.mit.edu	37	19	50764766	50764766	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:50764766G>T	ENST00000440075.2	+	21	2506	c.2459G>T	c.(2458-2460)cGc>cTc	p.R820L	MYH14_ENST00000425460.1_Missense_Mutation_p.R787L|MYH14_ENST00000601313.1_Missense_Mutation_p.R820L|MYH14_ENST00000598205.1_Missense_Mutation_p.R787L|MYH14_ENST00000596571.1_Missense_Mutation_p.R779L|MYH14_ENST00000376970.2_Missense_Mutation_p.R812L|MYH14_ENST00000262269.8_Missense_Mutation_p.R820L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	779	IQ.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AACCTCTACCGCGTGGGACAG	0.637000													6	18					2.7689e-08	3.62474e-08	1	1	0
MSLNL	401827	broad.mit.edu	37	16	823189	823189	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr16:823189G>T	ENST00000293892.3	-	10	2078	c.2079C>A	c.(2077-2079)acC>acA	p.T693T	MSLNL_ENST00000442466.1_Silent_p.T342T			Q96KJ4	MSLNL_HUMAN	mesothelin-like	342					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCTGCAACAGGGTGTCCAGGT	0.657000													20	43					4.96729e-08	6.31881e-08	1	1	0
ZNF841	284371	broad.mit.edu	37	19	52569216	52569216	+	Missense_Mutation	SNP	A	A	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:52569216A>G	ENST00000389534.4	-	7	2378	c.1919T>C	c.(1918-1920)cTa>cCa	p.L640P	ZNF841_ENST00000594295.1_Missense_Mutation_p.L640P|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000426391.2_Missense_Mutation_p.L524P|ZNF841_ENST00000359973.2_Intron	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ATGACGTGCTAGGCATGAGTA	0.428000													23	127					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126133511	126133511	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr9:126133511C>G	ENST00000373631.3	+	8	2091	c.2090C>G	c.(2089-2091)aCa>aGa	p.T697R	CRB2_ENST00000359999.3_Missense_Mutation_p.T697R|CRB2_ENST00000373629.2_Missense_Mutation_p.T365R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	697	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTGGCCTAACAGTATTCCTG	0.622000													31	109					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463097	26463097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:26463097G>T	ENST00000265944.5	+	30	4070	c.3904G>T	c.(3904-3906)Gaa>Taa	p.E1302*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1302					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACAGCATGGAAAAAGAAAA	0.448000													11	67					1.08611e-07	1.35763e-07	1	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20893283	20893283	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:20893283G>A	ENST00000381552.1	+	12	2082	c.1714G>A	c.(1714-1716)Gga>Aga	p.G572R	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G454R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G572R|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G572R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G523R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	572					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TGGCATACCTGGATACATATT	0.368000													38	82					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52541635	52541635	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr3:52541635T>A	ENST00000321725.6	+	19	2072	c.1996T>A	c.(1996-1998)Tgt>Agt	p.C666S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	666					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCAGGGCTCCTGTGTGGACTG	0.592000													8	22					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76509927	76509927	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr16:76509927G>C	ENST00000307431.8	+	12	2129	c.1744G>C	c.(1744-1746)Gct>Cct	p.A582P	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A534P|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A510P|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.A586P|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	583	EGF-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTACAGAGGAGCTACTTGCCA	0.448000													6	25					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48411966	48411966	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:48411966A>T	ENST00000435803.1	+	33	11029	c.11005A>T	c.(11005-11007)Agt>Tgt	p.S3669C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3669					transport	integral to membrane	ATP binding|ATPase activity	p.S3669C(1)|p.S3614C(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTACCTCTTGAGTGCATTTTT	0.433000													33	114					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177276	89177276	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chrX:89177276C>A	ENST00000561129.2	+	1	322	c.192C>A	c.(190-192)atC>atA	p.I64I	TGIF2LX_ENST00000283891.5_Silent_p.I64I			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGTTAAGATCCTCCGCGACT	0.463000													47	47					8.28887e-21	1.41421e-20	1	1	0
MARCKS	4082	broad.mit.edu	37	6	114181672	114181672	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:114181672G>T	ENST00000368635.4	+	2	1297	c.916G>T	c.(916-918)Gcc>Tcc	p.A306S		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	306				PGAPPEQEAAPAEEPAAAAASS -> LVCPRRGGSPRGGAR GRRSLNQ (in Ref. 1; AAA59555).	energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		GGCCGCCGCAGCCTCGTCAGC	0.776000													7	27					8.12818e-05	9.20172e-05	1	1	0
MRE11A	4361	broad.mit.edu	37	11	94169023	94169023	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:94169023G>T	ENST00000323929.3	-	18	2191	c.1969C>A	c.(1969-1971)Cct>Act	p.P657T	MRE11A_ENST00000407439.3_Missense_Mutation_p.P660T|MRE11A_ENST00000393241.4_Missense_Mutation_p.P656T|MRE11A_ENST00000323977.3_Missense_Mutation_p.P629T	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	657					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GAAGTGGTAGGAAAAATGTCT	0.338000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				17	73					1.5739e-10	2.28469e-10	1	1	0
OR52E6	390078	broad.mit.edu	37	11	5862660	5862660	+	Nonsense_Mutation	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:5862660G>C	ENST00000329322.5	-	1	467	c.468C>G	c.(466-468)taC>taG	p.Y156*	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Nonsense_Mutation_p.Y160*	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATGACCATGTACAAGCTCC	0.493000													31	116					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997412	85997412	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:85997412G>T	ENST00000372105.3	-	2	174	c.153C>A	c.(151-153)acC>acA	p.T51T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	51	LRRNT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCGGGGGCAGGGTCATGTCGG	0.672000													7	27					0.0293803	0.030481	1	1	0
ARF5	381	broad.mit.edu	37	7	127230161	127230161	+	Silent	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:127230161C>T	ENST00000000233.5	+	4	454	c.300C>T	c.(298-300)gtC>gtT	p.V100V	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	100					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GGGAGCGGGTCCAAGAATCTG	0.532000													22	61					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3789902	3789902	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:3789902C>A	ENST00000324932.7	-	8	1277	c.857G>T	c.(856-858)aGc>aTc	p.S286I	NUP98_ENST00000359171.4_Missense_Mutation_p.S286I|NUP98_ENST00000397004.4_Missense_Mutation_p.S286I|NUP98_ENST00000397007.4_Missense_Mutation_p.S286I|NUP98_ENST00000355260.3_Missense_Mutation_p.S286I	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	286	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AAATGGTTTGCTGAAGAGGCT	0.443000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								18	66					0.000566183	0.000623321	1	1	0
BRCA2	675	broad.mit.edu	37	13	32911850	32911850	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr13:32911850G>T	ENST00000544455.1	+	11	3585	c.3358G>T	c.(3358-3360)Gaa>Taa	p.E1120*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.E1120*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1120					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATATTAGAAGAATCAGGAAG	0.333000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			18	62					9.16793e-09	1.23151e-08	1	1	0
SHD	56961	broad.mit.edu	37	19	4290578	4290578	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:4290578A>T	ENST00000543264.2	+	6	2434	c.971A>T	c.(970-972)cAg>cTg	p.Q324L	SHD_ENST00000599689.1_Missense_Mutation_p.Q284L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	324	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCGGTGCAGGGTGCCGAG	0.667000													7	43					0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86180989	86180989	+	Silent	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:86180989A>T	ENST00000257770.3	+	3	646	c.597A>T	c.(595-597)gcA>gcT	p.A199A	NT5E_ENST00000369646.3_Silent_p.A199A|NT5E_ENST00000369651.3_Silent_p.A199A	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	199					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	AAATCACTGCATTACAACCTG	0.274000													5	29					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558446	106558446	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:106558446C>A	ENST00000526355.1	-	8	2496	c.2028G>T	c.(2026-2028)ccG>ccT	p.P676P	GUCY1A2_ENST00000282249.2_Silent_p.P707P|GUCY1A2_ENST00000347596.2_Silent_p.P697P	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	676					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CACGAGACCGCGGAATGAATG	0.423000													27	87					4.7796e-09	6.49305e-09	1	1	0
COL2A1	1280	broad.mit.edu	37	12	48371820	48371820	+	Silent	SNP	C	C	A	rs142786064		TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:48371820C>A	ENST00000380518.3	-	44	3248	c.3084G>T	c.(3082-3084)acG>acT	p.T1028T	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.T959T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1028	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTGCAGGACCCGTCAGGCCAG	0.662000													10	15					0.0135373	0.0143336	1	1	0
BMP6	654	broad.mit.edu	37	6	7862714	7862714	+	Missense_Mutation	SNP	G	G	T	rs151272884		TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:7862714G>T	ENST00000283147.6	+	4	1346	c.1187G>T	c.(1186-1188)cGg>cTg	p.R396L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	396					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GACGTGGCGCGGGTCTCCAGT	0.577000													8	38					0.00307968	0.00332938	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47426642	47426642	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr14:47426642T>C	ENST00000426342.1	-	9	1876	c.1130A>G	c.(1129-1131)tAt>tGt	p.Y377C	MDGA2_ENST00000357362.3_Missense_Mutation_p.Y377C|MDGA2_ENST00000399232.2_Missense_Mutation_p.Y675C|MDGA2_ENST00000439988.2_Missense_Mutation_p.Y606C	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	606	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATAAACCCCATAGTTTTCATT	0.398000													18	54					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579319	33579319	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:33579319G>A	ENST00000228567.3	-	2	559	c.263C>T	c.(262-264)cCt>cTt	p.P88L	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	88						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGAAGTCACAGGTTTGCTTTT	0.428000													15	32					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27841317	27841317	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:27841317G>T	ENST00000318304.8	+	25	2758	c.2475G>T	c.(2473-2475)gcG>gcT	p.A825A	PPFIBP1_ENST00000537927.1_Silent_p.A672A|PPFIBP1_ENST00000542629.1_Silent_p.A794A|PPFIBP1_ENST00000228425.6_Silent_p.A819A	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	825	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGAATATGCGCCCAATCTCA	0.473000													35	173					1.90571e-15	3.16154e-15	1	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698016	111698016	+	Silent	SNP	A	A	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chrX:111698016A>G	ENST00000340433.2	+	1	290	c.60A>G	c.(58-60)gcA>gcG	p.A20A		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	20							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCTTCAGGCAGAGAATCTGA	0.498000													51	55					0	0	1	0	0
KCNIP3	30818	broad.mit.edu	37	2	96049772	96049772	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:96049772T>C	ENST00000295225.5	+	9	881	c.746T>C	c.(745-747)aTg>aCg	p.M249T	KCNIP3_ENST00000360990.3_Missense_Mutation_p.M227T|KCNIP3_ENST00000468529.1_Missense_Mutation_p.M223T|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	249	Interaction with KCND2 (By similarity).				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		ATGAGCTCCATGCAGCTGTTT	0.582000													23	50					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61869831	61869831	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:61869831G>T	ENST00000403491.3	+	8	1615	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	NFIA_ENST00000371191.1_Missense_Mutation_p.Q400H|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000357977.5_Missense_Mutation_p.Q25H|NFIA_ENST00000407417.3_Missense_Mutation_p.Q369H|NFIA_ENST00000485903.2_Missense_Mutation_p.Q334H|NFIA_ENST00000371184.2_Missense_Mutation_p.Q248H|NFIA_ENST00000371185.2_Missense_Mutation_p.Q355H|NFIA_ENST00000371189.4_Missense_Mutation_p.Q422H|NFIA_ENST00000371187.3_Missense_Mutation_p.Q377H	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	377					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CCATTATCCAGCAGCCTGGGC	0.507000													26	73					1.5548e-18	2.64023e-18	1	1	0
REG3A	5068	broad.mit.edu	37	2	79384732	79384732	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:79384732G>T	ENST00000393878.1	-	4	680	c.426C>A	c.(424-426)agC>agA	p.S142R	REG3A_ENST00000409839.3_Missense_Mutation_p.S142R|REG3A_ENST00000305165.2_Missense_Mutation_p.S142R	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	142	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AGTGGCCGGGGCTTGAGATGG	0.547000													26	62					7.92952e-12	1.18943e-11	1	1	0
COL4A3	1285	broad.mit.edu	37	2	228155588	228155588	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:228155588C>T	ENST00000396578.3	+	37	3358	c.3196C>T	c.(3196-3198)Cca>Tca	p.P1066S	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1066	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGCCAGGACCACCGGGACC	0.507000													9	14					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162891739	162891739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:162891739C>A	ENST00000360534.3	-	9	1269	c.709G>T	c.(709-711)Gaa>Taa	p.E237*		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	237					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AAGGAGTATTCAATAAGTGGG	0.453000													18	52					1.33834e-09	1.88204e-09	1	1	0
NRAP	4892	broad.mit.edu	37	10	115383322	115383322	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:115383322A>T	ENST00000369358.4	-	23	2691	c.2447T>A	c.(2446-2448)cTg>cAg	p.L816Q	NRAP_ENST00000359988.3_Missense_Mutation_p.L808Q|NRAP_ENST00000369360.3_Missense_Mutation_p.L781Q|NRAP_ENST00000360478.3_Missense_Mutation_p.L773Q			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	808						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		tttggctgccaggaaggtcaa	0.507000													8	49					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35456353	35456353	+	Splice_Site	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:35456353C>T	ENST00000378880.2	-	10	1779		c.e10-1		PAMR1_ENST00000532848.1_Splice_Site|PAMR1_ENST00000278360.3_Splice_Site|PAMR1_ENST00000378878.3_Splice_Site	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1						proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTCCCGCAGACTATGGAGAAA	0.507000													10	49					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38800190	38800190	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:38800190C>A	ENST00000359357.3	+	29	3884	c.3630C>A	c.(3628-3630)aaC>aaA	p.N1210K	DNAH8_ENST00000441566.1_Missense_Mutation_p.N1210K|DNAH8_ENST00000449981.2_Missense_Mutation_p.N1427K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACGTGATAAACTTTGCAGAAG	0.358000													9	34					0.0477658	0.0488513	1	1	0
COLEC11	78989	broad.mit.edu	37	2	3691316	3691316	+	Splice_Site	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:3691316G>C	ENST00000403096.3	+	6	837		c.e6-1		COLEC11_ENST00000402922.1_Splice_Site|COLEC11_ENST00000404205.1_Splice_Site|COLEC11_ENST00000402794.1_Splice_Site|COLEC11_ENST00000418971.2_Splice_Site|COLEC11_ENST00000349077.4_Splice_Site|COLEC11_ENST00000382062.2_Splice_Site|COLEC11_ENST00000236693.7_Splice_Site|COLEC11_ENST00000487365.1_Splice_Site	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11							collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TTACCCCACAGCTGTCGCCGG	0.642000													21	40					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67890850	67890850	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:67890850C>T	ENST00000370994.4	-	3	635	c.521G>A	c.(520-522)gGc>gAc	p.G174D	SERBP1_ENST00000370995.2_Missense_Mutation_p.G174D|SERBP1_ENST00000370990.5_Missense_Mutation_p.G174D|SERBP1_ENST00000361219.6_Missense_Mutation_p.G174D	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	174					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						ACGTCCACGGCCCCCTCGACC	0.448000													7	39					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837478	82837478	+	Missense_Mutation	SNP	A	A	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:82837478A>G	ENST00000265077.3	+	8	9221	c.8656A>G	c.(8656-8658)Ata>Gta	p.I2886V	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.I1899V|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2886	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATACCTTCACATAACTGAGCC	0.398000													18	89					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11597656	11597656	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:11597656G>T	ENST00000262442.3	+	22	4832	c.4764G>T	c.(4762-4764)aaG>aaT	p.K1588N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K1588N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1588	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTGTGAGAAGGCCCTGGCAG	0.468000													12	41					3.27435e-08	4.22497e-08	1	1	0
OSGEP	55644	broad.mit.edu	37	14	20917174	20917174	+	Splice_Site	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr14:20917174T>C	ENST00000206542.4	-	5	929		c.e5-2		OSGEP_ENST00000554249.1_5'UTR|OSGEP_ENST00000555656.1_5'UTR	NM_017807.3	NP_060277.1	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase						proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GTTAGAAATCTAGCAGAAGAA	0.463000													29	110					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44879872	44879872	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chrX:44879872A>T	ENST00000377967.4	+	6	502	c.461A>T	c.(460-462)cAg>cTg	p.Q154L	KDM6A_ENST00000382899.4_Missense_Mutation_p.Q154L|KDM6A_ENST00000543216.1_Missense_Mutation_p.Q154L|KDM6A_ENST00000536777.1_Missense_Mutation_p.Q154L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	154					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(14)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAAGCATTTCAGGAGGTGCTT	0.358000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								29	53					0	0	1	0	0
FAM101A	144347	broad.mit.edu	37	12	124798907	124798907	+	Missense_Mutation	SNP	C	C	G	rs142556333		TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:124798907C>G	ENST00000389727.3	+	3	487	c.487C>G	c.(487-489)Cgc>Ggc	p.R163G	FAM101A_ENST00000324038.3_Missense_Mutation_p.R82G|FAM101A_ENST00000546355.1_Missense_Mutation_p.R82G|FAM101A_ENST00000338359.4_Missense_Mutation_p.R82G			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	163										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCGCGCCCTGCGCTTCCGCAG	0.687000													23	49					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	39021181	39021181	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:39021181G>T	ENST00000357387.3	-	3	185	c.155C>A	c.(154-156)tCa>tAa	p.S52*	RICTOR_ENST00000296782.5_Nonsense_Mutation_p.S52*	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	52					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCTCATATTTGATACTCCCTG	0.318000													25	82					1.12875e-08	1.5106e-08	1	1	0
GPR98	84059	broad.mit.edu	37	5	89921016	89921016	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:89921016G>A	ENST00000405460.2	+	6	724	c.628G>A	c.(628-630)Ggc>Agc	p.G210S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	210	Calx-beta 2.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTCCCCCTGGCAGAGCAAC	0.433000													5	18					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9322071	9322071	+	Silent	SNP	A	A	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:9322071A>G	ENST00000261336.2	-	16	1984	c.1956T>C	c.(1954-1956)taT>taC	p.Y652Y	PZP_ENST00000381997.2_Silent_p.Y521Y	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATAAGGGAACATAGATGGCTC	0.393000													14	41					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18630022	18630022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:18630022G>T	ENST00000406451.3	+	4	469	c.319G>T	c.(319-321)Gag>Tag	p.E107*	HDAC9_ENST00000441542.2_Nonsense_Mutation_p.E110*|HDAC9_ENST00000406072.1_Nonsense_Mutation_p.E138*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.E107*|HDAC9_ENST00000405010.3_Nonsense_Mutation_p.E107*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.E110*|HDAC9_ENST00000524023.1_Nonsense_Mutation_p.E76*|HDAC9_ENST00000428307.2_Nonsense_Mutation_p.E107*|HDAC9_ENST00000456174.2_Nonsense_Mutation_p.E79*|HDAC9_ENST00000417496.2_Nonsense_Mutation_p.E149*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	107					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCAGAAACTGGAGCAGCAGAG	0.473000													3	12					0.115264	0.115585	1	1	0
EPB41L3	23136	broad.mit.edu	37	18	5395685	5395685	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr18:5395685C>A	ENST00000341928.2	-	20	3335	c.2995G>T	c.(2995-2997)Gag>Tag	p.E999*	EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.E304*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.E296*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E830*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E777*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E777*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E999*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	999	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACGCCTGGCTCCAGATCTGTG	0.512000													33	94					9.65021e-13	1.52372e-12	1	1	0
LILRA3	11026	broad.mit.edu	37	19	54803978	54803978	+	Splice_Site	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:54803978C>A	ENST00000391745.1	-	6	402	c.85_splice	c.e6-1	p.G29_splice	LILRA3_ENST00000251390.3_Splice_Site_p.G12_splice|LILRA3_ENST00000391744.3_Splice_Site_p.G12_splice					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGCTCAGCCCTGGAAGAGA	0.632000													25	60					7.92952e-12	1.18943e-11	1	1	0
PCDH15	65217	broad.mit.edu	37	10	56106150	56106150	+	Missense_Mutation	SNP	A	A	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:56106150A>G	ENST00000373965.2	-	6	963	c.569T>C	c.(568-570)gTt>gCt	p.V190A	PCDH15_ENST00000395432.2_Missense_Mutation_p.V190A|PCDH15_ENST00000373957.3_Missense_Mutation_p.V168A|PCDH15_ENST00000361849.3_Missense_Mutation_p.V190A|PCDH15_ENST00000395440.1_Missense_Mutation_p.V190A|PCDH15_ENST00000395430.1_Missense_Mutation_p.V190A|PCDH15_ENST00000395442.1_Missense_Mutation_p.V190A|PCDH15_ENST00000395438.1_Missense_Mutation_p.V190A|PCDH15_ENST00000395445.1_Missense_Mutation_p.V190A|PCDH15_ENST00000373955.1_Missense_Mutation_p.V190A|PCDH15_ENST00000414778.1_Missense_Mutation_p.V195A|PCDH15_ENST00000395446.1_Missense_Mutation_p.V190A|PCDH15_ENST00000320301.6_Missense_Mutation_p.V190A|PCDH15_ENST00000437009.1_Missense_Mutation_p.V190A|PCDH15_ENST00000395433.1_Missense_Mutation_p.V168A|PCDH15_ENST00000409834.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	190	Cadherin 2.				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)				ATACTGAATAACATACTCTAT	0.328000										HNSCC(58;0.16)			24	72					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49030418	49030418	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr13:49030418A>T	ENST00000267163.4	+	19	2031	c.1893A>T	c.(1891-1893)caA>caT	p.Q631H		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	631	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGAGACACAAGCAACCTCAG	0.368000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			6	36					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43482394	43482394	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:43482394C>G	ENST00000532038.1	-	3	679	c.544G>C	c.(544-546)Ggt>Cgt	p.G182R	ARHGAP27_ENST00000532891.2_Missense_Mutation_p.G382R|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.G41R|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.G382R|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.G41R|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.G382R|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.G41R			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	382					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCGGGCTCACCGAAAGAGCCC	0.622000													14	36					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18630021	18630021	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:18630021G>T	ENST00000406451.3	+	4	468	c.318G>T	c.(316-318)ctG>ctT	p.L106L	HDAC9_ENST00000441542.2_Silent_p.L109L|HDAC9_ENST00000406072.1_Silent_p.L137L|HDAC9_ENST00000432645.2_Silent_p.L106L|HDAC9_ENST00000405010.3_Silent_p.L106L|HDAC9_ENST00000401921.1_Silent_p.L109L|HDAC9_ENST00000524023.1_Silent_p.L75L|HDAC9_ENST00000428307.2_Silent_p.L106L|HDAC9_ENST00000456174.2_Silent_p.L78L|HDAC9_ENST00000417496.2_Silent_p.L148L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	106					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAGAAACTGGAGCAGCAGA	0.473000													3	12					0.115264	0.115585	1	1	0
DNER	92737	broad.mit.edu	37	2	230223350	230223350	+	Missense_Mutation	SNP	C	C	T	rs35720839		TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:230223350C>T	ENST00000341772.4	-	13	2254	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	707					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CATTGCAGGCCGGGATTTCTT	0.358000													5	39					0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23306297	23306297	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:23306297C>T	ENST00000358689.4	-	3	399	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	ENTPD4_ENST00000356206.6_Missense_Mutation_p.R55Q|ENTPD4_ENST00000417069.2_Missense_Mutation_p.R55Q	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	55					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ATACTTATTTCGGATTATGAC	0.383000													6	113					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161324	40161324	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr22:40161324C>A	ENST00000325157.6	-	6	1373	c.1123G>T	c.(1123-1125)Gac>Tac	p.D375Y		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	375										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTCACTCGGTCAAATATTTTG	0.438000													14	60					6.72482e-11	9.88137e-11	1	1	0
AEBP1	165	broad.mit.edu	37	7	44152274	44152274	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:44152274C>T	ENST00000223357.3	+	18	2640	c.2335C>T	c.(2335-2337)Cct>Tct	p.P779S	AEBP1_ENST00000450684.2_Missense_Mutation_p.P354S	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	779	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGCCCGCACGCCTACCCAGGA	0.642000													18	28					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr20:26084094T>C	ENST00000478176.1	-	0	363					NR_003678.1																						aaaacataCATTCTTAGAATA	0.299000													4	35					0	0	1	0	0
RMND5B	64777	broad.mit.edu	37	5	177569900	177569900	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:177569900C>A	ENST00000515098.1	+	6	684	c.333C>A	c.(331-333)gaC>gaA	p.D111E	RMND5B_ENST00000313386.4_Missense_Mutation_p.D111E|RMND5B_ENST00000542098.1_Missense_Mutation_p.D98E			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	111										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTGTGGGACGCGCGGGAAC	0.597000													5	56					0.000602214	0.000660967	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497722	1497722	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:1497722G>T	ENST00000421627.2	+	2	997	c.863G>T	c.(862-864)cGc>cTc	p.R288L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	367					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TACCTGAAGCGCAGCTCCTGG	0.642000													25	28					2.21704e-12	3.41082e-12	1	1	0
ASPM	259266	broad.mit.edu	37	1	197071289	197071289	+	Silent	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:197071289G>A	ENST00000367409.4	-	18	7348	c.7092C>T	c.(7090-7092)atC>atT	p.I2364I	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2364	IQ 23.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTGCTGTTGGATCACAACGG	0.463000													16	169					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109815259	109815259	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:109815259C>T	ENST00000424296.2	-	40	5534	c.5458G>A	c.(5458-5460)Gga>Aga	p.G1820R	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TTTAAGCATCCCGCTGCATTC	0.363000													5	51					0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17452006	17452006	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:17452006G>T	ENST00000324894.8	+	8	1196	c.1128G>T	c.(1126-1128)tcG>tcT	p.S376S	GTPBP3_ENST00000361619.5_Silent_p.S398S|GTPBP3_ENST00000358792.7_Silent_p.S408S|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Silent_p.S355S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	376					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						TGAACAAGTCGGACCTGCTGT	0.687000													3	25					6.4e-05	7.29114e-05	1	1	0
SF3B4	10262	broad.mit.edu	37	1	149898367	149898367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:149898367G>A	ENST00000271628.8	-	3	1191	c.607C>T	c.(607-609)Cag>Tag	p.Q203*		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	203						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CGATCAGCCTGGGAGAGCGGG	0.582000													40	55					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369263	22369263	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr15:22369263G>T	ENST00000332663.2	+	1	786	c.688G>T	c.(688-690)Ggc>Tgc	p.G230C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GAAACTTTCAGGCTCAGGTGA	0.463000													16	92					1.56452e-12	2.43822e-12	1	1	0
ATP6V0D2	245972	broad.mit.edu	37	8	87155124	87155124	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:87155124T>C	ENST00000285393.3	+	5	722	c.580T>C	c.(580-582)Tat>Cat	p.Y194H	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	194					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TGAGGCATTCTATAAATTCTG	0.308000													35	152					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101723228	101723228	+	Splice_Site	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:101723228G>A	ENST00000261637.4	+	27	3591		c.e27+1			NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACGAGAAAAGGTTAGATTCAC	0.393000													15	44					0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65032158	65032158	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr14:65032158T>A	ENST00000298705.1	+	5	449	c.353T>A	c.(352-354)cTg>cAg	p.L118Q	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	118																	ACCATTACACTGGATGATGTT	0.363000													5	34					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298915	107298915	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr9:107298915G>T	ENST00000374781.2	-	1	222	c.180C>A	c.(178-180)ctC>ctA	p.L60L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TAACTAGAATGAGAGCAAAGT	0.388000													25	71					1.10923e-09	1.56597e-09	1	1	0
SPEG	10290	broad.mit.edu	37	2	220354332	220354332	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:220354332T>A	ENST00000312358.7	+	36	8724	c.8592T>A	c.(8590-8592)agT>agA	p.S2864R	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2864	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCTACCCAGTACCCACGTCA	0.632000													12	95					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1550635	1550635	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr16:1550635G>T	ENST00000262319.6	+	9	1495	c.1216G>T	c.(1216-1218)Ggc>Tgc	p.G406C		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	406						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCGACGCCTGGGCATGATCGT	0.692000													8	19					0.000274275	0.00030475	1	1	0
NOBOX	135935	broad.mit.edu	37	7	144098420	144098420	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:144098420G>T	ENST00000467773.1	-	4	562	c.563C>A	c.(562-564)cCa>cAa	p.P188Q	NOBOX_ENST00000483238.1_Missense_Mutation_p.P188Q|NOBOX_ENST00000223140.5_Missense_Mutation_p.P103Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	188					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTCTCCCACTGGGAGGGAACA	0.612000													8	24					0.0477658	0.0488513	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57181089	57181089	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr4:57181089C>A	ENST00000504228.1	+	6	1526	c.1421C>A	c.(1420-1422)gCc>gAc	p.A474D	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A467D|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A474D			Q6ZU35	K1211_HUMAN	KIAA1211	474	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTCCAGGGGGCCGATCGTCCT	0.637000													3	12					0.115264	0.115585	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117045857	117045857	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:117045857T>A	ENST00000355044.3	+	15	2491	c.2365T>A	c.(2365-2367)Tca>Aca	p.S789T		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	789	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATTAACAACCTCAAAAGAAGT	0.313000													11	41					0	0	1	0	0
ATAT1	79969	broad.mit.edu	37	6	30596123	30596123	+	Silent	SNP	G	G	A	rs139657037		TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:30596123G>A	ENST00000376483.4	+	6	463	c.453G>A	c.(451-453)ccG>ccA	p.P151P	ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000318999.7_Silent_p.P151P|ATAT1_ENST00000330083.5_Silent_p.P139P|ATAT1_ENST00000376478.2_Silent_p.P151P|ATAT1_ENST00000376485.4_Silent_p.P151P|ATAT1_ENST00000329992.8_Silent_p.P151P|ATAT1_ENST00000319027.5_Silent_p.P151P			Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	151							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GAGTGGAACCGCACCAACTGG	0.522000													5	44					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57406638	57406638	+	Nonsense_Mutation	SNP	G	G	A	rs41286844	byFrequency	TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:57406638G>A	ENST00000543257.1	-	10	1692	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	C8B_ENST00000371237.4_Nonsense_Mutation_p.R428*|C8B_ENST00000535057.1_Nonsense_Mutation_p.R366*	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	428	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GCCCCTCCTCGTACCAGGACC	0.587000													9	23					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376447	376447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:376447G>T	ENST00000329962.6	+	14	1324	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	442						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGACGAGGGGGAGCTGCTCGA	0.756000													8	25					3.09899e-07	3.78181e-07	1	1	0
UGT2A2	574537	broad.mit.edu	37	4	70504982	70504982	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr4:70504982G>T	ENST00000457664.2	-	1	376	c.377C>A	c.(376-378)aCt>aAt	p.T126N	UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.T327N|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron	NM_001105677.2	NP_001099147.2																					TTGAAAGAAAGTGTCTAGAAG	0.383000													19	67					1.67942e-08	2.21461e-08	1	1	0
NCOA4	8031	broad.mit.edu	37	10	51579259	51579259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:51579259C>T	ENST00000452682.1	+	3	418	c.166C>T	c.(166-168)Caa>Taa	p.Q56*	NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000498586.1_Intron|NCOA4_ENST00000443446.1_Nonsense_Mutation_p.Q40*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.Q40*|NCOA4_ENST00000344348.6_Nonsense_Mutation_p.Q40*|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.Q56*|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000374082.1_Nonsense_Mutation_p.Q40*	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	40					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GGCTGAACAGCAAATTAAAGA	0.498000			T	RET	papillary thyroid								12	114					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29879418	29879418	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr22:29879418C>A	ENST00000310624.6	+	2	971	c.938C>A	c.(937-939)tCa>tAa	p.S313*		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	313	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GCTATGCGCTCAGCGCAGGAG	0.612000													27	131					2.79863e-10	4.03003e-10	1	1	0
GPR113	165082	broad.mit.edu	37	2	26535931	26535931	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:26535931C>A	ENST00000333478.6	-	7	1518	c.936G>T	c.(934-936)ctG>ctT	p.L312L	GPR113_ENST00000541401.1_Silent_p.L114L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Silent_p.L511L|GPR113_ENST00000421160.2_Silent_p.L442L	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	511					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGCCCTGGCAGCTGTGCCA	0.607000													9	37					0.000442599	0.00048876	1	1	0
IGLV3-21	28796	broad.mit.edu	37	22	23055532	23055532	+	RNA	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr22:23055532C>A	ENST00000390308.2	+	0	446																											CTGTGCTGGTCGTCTATGATG	0.597000													3	16					3.59834e-05	4.15193e-05	1	1	0
GXYLT1	283464	broad.mit.edu	37	12	42481711	42481711	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:42481711T>A	ENST00000398675.3	-	8	1432	c.1200A>T	c.(1198-1200)aaA>aaT	p.K400N	GXYLT1_ENST00000280876.6_Missense_Mutation_p.K369N	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	400					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTTCTAAAGGTTTTAATAAGG	0.274000													10	49					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64458908	64458908	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:64458908T>C	ENST00000355086.3	+	8	1558	c.1034T>C	c.(1033-1035)gTc>gCc	p.V345A	SRGAP1_ENST00000543397.1_Missense_Mutation_p.V305A|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.V345A	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	345					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GTGTGCCAGGTCAGTGCCCAG	0.522000													3	12					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61249346	61249346	+	Missense_Mutation	SNP	C	C	T	rs145779108		TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:61249346C>T	ENST00000338608.2	+	2	190	c.65C>T	c.(64-66)aCg>aTg	p.T22M	RP11-286N22.8_ENST00000544880.1_Intron|RP11-286N22.8_ENST00000543044.1_3'UTR|PPP1R32_ENST00000432063.2_Missense_Mutation_p.T22M	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	22																	GGGGGCTACACGGACCCCCTG	0.632000													5	20					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746688	121746688	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:121746688G>T	ENST00000452319.1	+	14	3258	c.3198G>T	c.(3196-3198)gtG>gtT	p.V1066V	GLI2_ENST00000314490.11_Silent_p.V738V|GLI2_ENST00000361492.4_Silent_p.V1066V			P10070	GLI2_HUMAN	GLI family zinc finger 2	1066					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGACGACGTGGTGCAGTACA	0.677000													10	50					4.68919e-08	6.0075e-08	1	1	0
COX6B1	1340	broad.mit.edu	37	19	36145513	36145513	+	Silent	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:36145513C>T	ENST00000246554.3	+	3	339	c.147C>T	c.(145-147)ggC>ggT	p.G49G	COX6B1_ENST00000392201.1_Silent_p.G49G|COX6B1_ENST00000592141.1_Silent_p.G49G	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	49					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTAAAGGAGGCGATATCTCTG	0.532000													7	88					0	0	1	0	0
GJD4	219770	broad.mit.edu	37	10	35896712	35896712	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:35896712G>A	ENST00000321660.1	+	2	429	c.271G>A	c.(271-273)Gtc>Atc	p.V91I		NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	91					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCTCCGCCGTCTTCAGCGT	0.711000													24	48					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947802	237947802	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:237947802C>A	ENST00000366574.2	+	90	13107	c.12790C>A	c.(12790-12792)Ctg>Atg	p.L4264M	RYR2_ENST00000360064.6_Missense_Mutation_p.L4270M|RYR2_ENST00000542537.1_Missense_Mutation_p.L4248M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4264					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGAAGAGCCTGAAGAAGCA	0.473000													8	36					0.0381472	0.0394626	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3000071	3000071	+	Silent	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:3000071G>A	ENST00000520002.1	-	42	6715	c.6160C>T	c.(6160-6162)Ctg>Ttg	p.L2054L	CSMD1_ENST00000400186.3_Silent_p.L2054L|CSMD1_ENST00000602723.1_Silent_p.L2054L|CSMD1_ENST00000602557.1_Silent_p.L2054L|CSMD1_ENST00000542608.1_Silent_p.L2053L|CSMD1_ENST00000539096.1_Silent_p.L2053L|CSMD1_ENST00000537824.1_Silent_p.L2053L|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2054	CUB 12.					integral to membrane				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)		GTGCTCAGCAGGGCCGCGGGG	0.473000													20	74					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139583904	139583904	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:139583904C>A	ENST00000358430.3	-	5	926	c.694G>T	c.(694-696)Gcg>Tcg	p.A232S		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	232						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CGCTGAAGCGCCTCTTCCTGC	0.483000													13	46					5.50884e-06	6.45987e-06	1	1	0
ARMC5	79798	broad.mit.edu	37	16	31471247	31471247	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr16:31471247C>A	ENST00000457010.2	+	1	1103	c.402C>A	c.(400-402)agC>agA	p.S134R	ARMC5_ENST00000563544.1_Missense_Mutation_p.S134R|ARMC5_ENST00000268314.4_Missense_Mutation_p.S134R|ARMC5_ENST00000408912.3_Missense_Mutation_p.S229R|ARMC5_ENST00000538189.1_Missense_Mutation_p.S166R	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	134							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGCGCTCAGCATCCTAGCCG	0.677000													14	30					2.32078e-09	3.2383e-09	1	1	0
PTGDR	5729	broad.mit.edu	37	14	52734827	52734827	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr14:52734827G>A	ENST00000306051.2	+	1	397	c.295G>A	c.(295-297)Gca>Aca	p.A99T	PTGDR_ENST00000553372.1_Missense_Mutation_p.A99T	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	99						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GCTTGCGCCCGCATTGGACAA	0.617000													14	102					0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6422371	6422371	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:6422371T>C	ENST00000398148.3	-	2	418	c.326A>G	c.(325-327)aAg>aGg	p.K109R		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	109	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CAACTGTCTCTTTTGGCCCCC	0.483000													16	50					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	T	rs55863639		TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:7579312C>T	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAACTGACCGTGCAAGTCA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	67					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2779519	2779519	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr20:2779519G>T	ENST00000380605.2	-	2	257	c.193C>A	c.(193-195)Cgg>Agg	p.R65R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	65					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACTCGAATCCGGACATGCTGT	0.547000													20	72					4.35082e-09	5.95549e-09	1	1	0
MYH1	4619	broad.mit.edu	37	17	10411688	10411688	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:10411688G>T	ENST00000226207.5	-	16	1983	c.1889C>A	c.(1888-1890)gCg>gAg	p.A630E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	630	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACCTGCTTCCGCTCCCGTTGC	0.468000													17	100					3.41278e-10	4.89483e-10	1	1	0
ZEB2	9839	broad.mit.edu	37	2	145157818	145157818	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:145157818G>C	ENST00000558170.2	-	8	2120	c.936C>G	c.(934-936)tgC>tgG	p.C312W	ZEB2_ENST00000539609.3_Missense_Mutation_p.C288W|ZEB2_ENST00000303660.4_Missense_Mutation_p.C312W|ZEB2_ENST00000409487.3_Missense_Mutation_p.C312W	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	312						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGCAGTTTGGGCACTCGTAAG	0.368000													6	20					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164424	139164424	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:139164424G>T	ENST00000395297.1	-	13	2464	c.2294C>A	c.(2293-2295)aCt>aAt	p.T765N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	765										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGTTAACTTAGTGAGTGCCAC	0.512000										HNSCC(54;0.14)			7	49					8.12818e-05	9.20172e-05	1	1	0
OR4A15	81328	broad.mit.edu	37	11	55136245	55136245	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:55136245G>T	ENST00000314706.3	+	1	886	c.886G>T	c.(886-888)Gat>Tat	p.D296Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTTTCCCATTGATAAATCCAT	0.398000													33	202					1.26612e-14	2.05316e-14	1	1	0
ANKRD26	22852	broad.mit.edu	37	10	27329008	27329008	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:27329008T>A	ENST00000376087.4	-	21	2426	c.2261A>T	c.(2260-2262)aAa>aTa	p.K754I	ANKRD26_ENST00000376070.3_Missense_Mutation_p.K311I|ANKRD26_ENST00000436985.2_Missense_Mutation_p.K770I	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	753						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCCATTTTTTTAATTTTTAC	0.313000													14	48					0	0	1	0	0
INTS12	57117	broad.mit.edu	37	4	106621162	106621162	+	Translation_Start_Site	SNP	T	T	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr4:106621162T>G	ENST00000451321.2	-	2	480	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	INTS12_ENST00000394735.1_Start_Codon_SNP_p.M1L|INTS12_ENST00000340139.5_Start_Codon_SNP_p.M1L	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	1					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GTAGCAGCCATTGCAAACGCC	0.323000													38	113					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5831558	5831558	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:5831558A>T	ENST00000318336.4	-	3	2215	c.1021T>A	c.(1021-1023)Tgg>Agg	p.W341R	FUT6_ENST00000286955.5_Missense_Mutation_p.W341R|FUT6_ENST00000524754.1_Missense_Mutation_p.W341R|FUT6_ENST00000592563.1_Missense_Mutation_p.W341R|FUT6_ENST00000527106.1_Missense_Mutation_p.W341R	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	341					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGCAGTTTCCAGCAGGCCTTG	0.627000													22	82					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38296959	38296959	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:38296959G>A	ENST00000264645.7	+	1	384	c.158G>A	c.(157-159)gGa>gAa	p.G53E		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	53					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TCACAGCGCGGAGGCCGAACC	0.751000													5	4					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68795599	68795599	+	Splice_Site	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr4:68795599A>T	ENST00000508048.1	-	5	512	c.478_splice	c.e5+1	p.N159_splice	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Splice_Site_p.N160_splice|TMPRSS11A_ENST00000334830.7_Splice_Site_p.N163_splice			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	163	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CCTCCTTACCATTAACTTGAA	0.338000													27	63					0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131802879	131802879	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr9:131802879G>T	ENST00000277475.5	+	2	192	c.6G>T	c.(4-6)gcG>gcT	p.A2A	FAM73B_ENST00000406926.2_Silent_p.A2A|FAM73B_ENST00000358369.4_Silent_p.A2A|FAM73B_ENST00000474534.1_3'UTR			Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	2						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CTGCCATGGCGTTCCGGAGGG	0.617000													3	12					6.4e-05	7.29114e-05	1	1	0
RBM24	221662	broad.mit.edu	37	6	17292272	17292272	+	Silent	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:17292272C>T	ENST00000379052.5	+	4	869	c.633C>T	c.(631-633)gcC>gcT	p.A211A	RBM24_ENST00000318204.5_Silent_p.A166A|RBM24_ENST00000425446.2_Silent_p.A153A|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	211	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CAgctgccgccgccgctgcag	0.607000													6	50					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40102083	40102083	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr20:40102083G>A	ENST00000373233.3	-	17	2720	c.2543C>T	c.(2542-2544)cCa>cTa	p.P848L	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	848	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTCTGAATCTGGCTTACAGAA	0.532000													12	41					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42880503	42880503	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:42880503C>T	ENST00000334370.4	+	41	8548	c.7913C>T	c.(7912-7914)cCa>cTa	p.P2638L	MEGF8_ENST00000378073.4_Missense_Mutation_p.P299L|MEGF8_ENST00000251268.6_Missense_Mutation_p.P2705L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2705						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTCTGCTTCCCACCTGACCCT	0.697000													11	26					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11572813	11572813	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:11572813G>A	ENST00000262442.3	+	17	3123	c.3055G>A	c.(3055-3057)Gag>Aag	p.E1019K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1019K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1019	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTCTATGTGGAGGACCGGAA	0.542000													18	71					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43147805	43147805	+	RNA	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:43147805C>A	ENST00000522175.2	+	0	180							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCCAAGGTATCACGTCCGTCG	0.607000													21	85					4.35082e-09	5.95549e-09	1	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536617	27536617	+	RNA	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr10:27536617C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TTTCAAGATGCTCCTTGGGCC	0.483000													3	30					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294564	31294564	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr15:31294564G>A	ENST00000542188.1	-	27	4703	c.4390C>T	c.(4390-4392)Ccc>Tcc	p.P1464S	TRPM1_ENST00000397795.2_Missense_Mutation_p.P1425S|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.P1447S	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1425					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTTCATCGGGGAAATAGCGT	0.428000													16	86					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94634358	94634358	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:94634358G>A	ENST00000258526.4	+	11	2467	c.2218G>A	c.(2218-2220)Ggg>Agg	p.G740R		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	740					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTTTGATGGTGGGAACTGCTC	0.433000													39	128					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74529688	74529688	+	Splice_Site	SNP	T	T	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:74529688T>A	ENST00000355780.5	-	6	533		c.e6-2		STAU2_ENST00000522509.1_Splice_Site|STAU2_ENST00000521451.1_Splice_Site|STAU2_ENST00000524300.1_Splice_Site|STAU2_ENST00000521727.1_Splice_Site|STAU2_ENST00000517542.1_Splice_Site|STAU2_ENST00000521210.1_Splice_Site|STAU2_ENST00000523558.1_Splice_Site|STAU2_ENST00000519961.1_Splice_Site|STAU2_ENST00000522695.1_Splice_Site	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2						transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CAATGATACCTAAAATAAGAA	0.299000													13	64					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57601998	57601998	+	Splice_Site	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:57601998G>T	ENST00000243077.3	+	77	12503	c.12038_splice	c.e77+1	p.G4013_splice		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4013					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCACTGAGGGGGTGGGCAAG	0.662000													6	14					0.0215528	0.0225552	1	1	0
NLRC4	58484	broad.mit.edu	37	2	32463286	32463286	+	Silent	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:32463286G>A	ENST00000404025.2	-	7	2924	c.2436C>T	c.(2434-2436)gtC>gtT	p.V812V	NLRC4_ENST00000360906.5_Silent_p.V812V|NLRC4_ENST00000342905.6_Silent_p.V147V|NLRC4_ENST00000402280.1_Silent_p.V812V			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	812					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACAGAGACTTGACTATGTAAT	0.408000													16	66					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86807974	86807974	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr15:86807974G>T	ENST00000441037.2	+	10	1529	c.1434G>T	c.(1432-1434)gtG>gtT	p.V478V	AGBL1_ENST00000421325.2_Silent_p.V478V|AGBL1_ENST00000389298.3_Silent_p.V209V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	478					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CCAGCTCTGTGGTGGACTTCA	0.483000													21	66					1.15919e-05	1.35489e-05	1	1	0
WNT7A	7476	broad.mit.edu	37	3	13896063	13896063	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr3:13896063A>T	ENST00000285018.4	-	3	840	c.536T>A	c.(535-537)cTc>cAc	p.L179H		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	179					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CAAGTTCATGAGAGTCCGGGC	0.602000													43	125					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20122531	20122531	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:20122531C>T	ENST00000396085.1	+	33	6600	c.6239C>T	c.(6238-6240)cCc>cTc	p.P2080L	NAV2_ENST00000360655.4_Missense_Mutation_p.P2013L|NAV2_ENST00000527559.2_Missense_Mutation_p.P2065L|NAV2_ENST00000311043.8_Missense_Mutation_p.P1141L|NAV2_ENST00000540292.1_Missense_Mutation_p.P2067L|NAV2_ENST00000349880.4_Missense_Mutation_p.P2077L|NAV2_ENST00000533917.1_Missense_Mutation_p.P1141L|NAV2_ENST00000396087.3_Missense_Mutation_p.P2136L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2136						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCTTGATTCCCAAGCCCATC	0.562000													27	58					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12760825	12760825	+	Silent	SNP	G	G	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr19:12760825G>A	ENST00000456935.2	-	18	2209	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	MAN2B1_ENST00000221363.4_Silent_p.D722D	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	723					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCCCCAGGTGTCGCTGTACC	0.592000													21	95					0	0	1	0	0
CDX1	1044	broad.mit.edu	37	5	149563163	149563163	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:149563163C>A	ENST00000231656.8	+	3	800	c.718C>A	c.(718-720)Ctg>Atg	p.L240M		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGGCCATCCCTGGGGGGCCT	0.637000													3	18					0.004672	0.00499086	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168107382	168107382	+	Silent	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr2:168107382G>C	ENST00000409195.1	+	9	9569	c.9480G>C	c.(9478-9480)tcG>tcC	p.S3160S	XIRP2_ENST00000295237.9_Silent_p.S3160S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S2938S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2985					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGCCCATGTCGCAAAAATCTG	0.468000													16	85					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50521573	50521573	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr22:50521573C>A	ENST00000311597.5	-	3	813	c.207G>T	c.(205-207)tcG>tcT	p.S69S	MLC1_ENST00000538737.1_Silent_p.S69S|MLC1_ENST00000535444.1_5'UTR|MLC1_ENST00000395876.2_Silent_p.S69S|MLC1_ENST00000450140.2_Silent_p.S69S|MLC1_ENST00000431262.2_Intron	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	69						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCAGGTACAGCGAAAACCCCG	0.607000													10	48					3.86212e-05	4.42791e-05	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:121238908C>T	ENST00000297848.3	+	16	2177	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M|COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	636	Fibronectin type-III 5.		T -> A (in dbSNP:rs56815167).		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483000													10	38					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732427	152732427	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:152732427G>T	ENST00000368773.1	+	2	421	c.363G>T	c.(361-363)caG>caT	p.Q121H	KPRP_ENST00000606109.1_Missense_Mutation_p.Q121H	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	121	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTACGTGCAGTGCGAAGCGT	0.488000													30	243					1.08312e-15	1.8052e-15	1	1	0
PLOD2	5352	broad.mit.edu	37	3	145839019	145839019	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr3:145839019T>C	ENST00000282903.5	-	3	395	c.218A>G	c.(217-219)gAa>gGa	p.E73G	PLOD2_ENST00000360060.3_Missense_Mutation_p.E73G|PLOD2_ENST00000494950.1_Missense_Mutation_p.E18G	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	73					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCTCCATTCTTCTCCTTGACC	0.363000													20	34					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070127	114070127	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr3:114070127C>A	ENST00000462705.1	-	11	1400	c.579G>T	c.(577-579)gtG>gtT	p.V193V	ZBTB20_ENST00000357258.3_Silent_p.V193V|ZBTB20_ENST00000471418.1_Silent_p.V193V|ZBTB20_ENST00000474710.1_Silent_p.V266V|ZBTB20_ENST00000481632.1_Silent_p.V193V|ZBTB20_ENST00000464560.1_Silent_p.V193V|ZBTB20_ENST00000393785.2_Silent_p.V193V	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGTGGCTGACCACTGCGCCGC	0.637000													11	30					4.68919e-08	6.0075e-08	1	1	0
TRIM36	55521	broad.mit.edu	37	5	114466440	114466440	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr5:114466440C>T	ENST00000513154.1	-	9	1971	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N	TRIM36_ENST00000282369.3_Missense_Mutation_p.D561N|TRIM36_ENST00000514154.1_Missense_Mutation_p.D406N			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	561	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ATGATGTAGTCTAAGCTTGTG	0.448000													11	94					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1101_splice	c.e13-1	p.L368_splice	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000													6	17					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593398	11593398	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:11593398T>C	ENST00000262442.3	+	20	4327	c.4259T>C	c.(4258-4260)gTc>gCc	p.V1420A	DNAH9_ENST00000454412.2_Missense_Mutation_p.V1420A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1420	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGGATGAGGTCCGGGGCATT	0.562000													11	29					0	0	1	0	0
BTBD1	53339	broad.mit.edu	37	15	83698921	83698921	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr15:83698921C>A	ENST00000261721.4	-	5	1224	c.1022G>T	c.(1021-1023)cGc>cTc	p.R341L	BTBD1_ENST00000560015.1_5'UTR|BTBD1_ENST00000379403.2_Missense_Mutation_p.R341L|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	341						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTAACCCCAGCGGCTTTCTAC	0.478000													43	253					1.57945e-13	2.54979e-13	1	1	0
ITLN1	55600	broad.mit.edu	37	1	160851944	160851944	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:160851944A>T	ENST00000326245.3	-	4	323	c.208T>A	c.(208-210)Tgt>Agt	p.C70S		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	70	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTCATGTCACAGAAGGTCTGG	0.582000													5	78					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56679796	56679796	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:56679796G>C	ENST00000389934.3	-	12	1609	c.1492C>G	c.(1492-1494)Caa>Gaa	p.Q498E	TEX14_ENST00000240361.8_Missense_Mutation_p.Q504E|TEX14_ENST00000349033.5_Missense_Mutation_p.Q498E	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	504	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGATATCTTGAAGGTTCATA	0.413000													6	65					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800619	28800619	+	Silent	SNP	G	G	T			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:28800619G>T	ENST00000373839.3	+	7	1638	c.1377G>T	c.(1375-1377)ctG>ctT	p.L459L	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.L469L	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	459				L -> P (in Ref. 1; BAB14483).			actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGTACGCTGGGTCGGACCA	0.463000													30	75					2.49675e-24	4.30062e-24	1	1	0
RPL9	6133	broad.mit.edu	37	4	39458036	39458036	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr4:39458036C>A	ENST00000449470.2	-	4	829	c.381G>T	c.(379-381)cgG>cgT	p.R127R	RPL9_ENST00000295955.9_Silent_p.R127R	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	127					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CTGGTCTCATCCGAACCCTGC	0.413000													15	36					6.49762e-13	1.03502e-12	1	1	0
VPS28	51160	broad.mit.edu	37	8	145650100	145650100	+	Splice_Site	SNP	C	C	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:145650100C>G	ENST00000377348.2	-	7	492		c.e7+1		VPS28_ENST00000529182.1_Splice_Site|VPS28_ENST00000526054.1_Splice_Site|VPS28_ENST00000292510.4_Splice_Site	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)						cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGGGGCGCACCGAGACCACG	0.672000													18	45					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003266	50003266	+	Missense_Mutation	SNP	G	G	T	rs148765699	byFrequency	TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:50003266G>T	ENST00000335238.4	-	1	805	c.772C>A	c.(772-774)Cgc>Agc	p.R258S		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GTCACTGAGCGCAGATACACA	0.433000													17	49					2.4624e-09	3.40947e-09	1	1	0
TCTN2	79867	broad.mit.edu	37	12	124158242	124158242	+	Silent	SNP	C	C	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:124158242C>A	ENST00000303372.5	+	4	476	c.348C>A	c.(346-348)tcC>tcA	p.S116S	TCTN2_ENST00000426174.2_Silent_p.S115S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	116					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCTCAGAGTCCCCCTGTATCC	0.458000													22	99					2.89027e-11	4.29957e-11	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70504453	70504454	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr1:70504453_70504454insA	ENST00000310961.5	+	22	3265_3266	c.2847_2848insA	c.(2845-2850)ttaaaafs	p.LK949fs	LRRC7_ENST00000035383.5_Frame_Shift_Ins_p.LK944fs|LRRC7_ENST00000415775.2_Frame_Shift_Ins_p.LK228fs			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	944						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTAATAAATTCAAAAAGTCACA	0.381													15	47	---	---	---	---					
ZBTB20	26137	broad.mit.edu	37	3	114069779	114069779	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr3:114069779delG	ENST00000462705.1	-	11	1748	c.927delC	c.(925-927)tcfs	p.S309fs	ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.S309fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.S309fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.S309fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.S309fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.S382fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.S309fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGCCTATGGAGGAGCTGA	0.652													10	33	---	---	---	---					
COL19A1	1310	broad.mit.edu	37	6	70854147	70854147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr6:70854147delG	ENST00000322773.4	+	24	1774	c.1672delG	c.(1672-1674)gafs	p.G558fs	COL19A1_ENST00000393344.1_Frame_Shift_Del_p.G180fs	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	558	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGCATTAAAGGAGAAAAGGT	0.383													13	57	---	---	---	---					
CHRM2	1129	broad.mit.edu	37	7	136699972	136699972	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr7:136699972delC	ENST00000445907.2	+	3	888	c.360delC	c.(358-360)gafs	p.D120fs	AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Frame_Shift_Del_p.D120fs|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Frame_Shift_Del_p.D120fs|CHRM2_ENST00000397608.3_Frame_Shift_Del_p.D120fs|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Frame_Shift_Del_p.D120fs|CHRM2_ENST00000402486.3_Frame_Shift_Del_p.D120fs	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	120					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCAGCTTTGACAGGTACTTCT	0.502													33	95	---	---	---	---					
ASH2L	9070	broad.mit.edu	37	8	37996387	37996387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:37996387delC	ENST00000343823.6	+	15	2082	c.1773delC	c.(1771-1773)tafs	p.Y591fs	ASH2L_ENST00000428278.2_Frame_Shift_Del_p.Y497fs|ASH2L_ENST00000250635.7_Frame_Shift_Del_p.Y464fs|ASH2L_ENST00000521652.1_Frame_Shift_Del_p.Y464fs|ASH2L_ENST00000545394.1_Frame_Shift_Del_p.Y452fs	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	591					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATCTCACTTACCGCCCTGTGA	0.453													18	114	---	---	---	---					
SLCO5A1	81796	broad.mit.edu	37	8	70744246	70744247	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:70744246_70744247delGG	ENST00000260126.3	-	2	1368_1369	c.662_663delCC	c.(661-663)cfs	p.P221fs	SLCO5A1_ENST00000524945.1_Frame_Shift_Del_p.P221fs|SLCO5A1_ENST00000530307.1_Frame_Shift_Del_p.P221fs|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	221						integral to membrane|plasma membrane	transporter activity	p.Y222fs*6(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGATCTGGTAGGGGGGCGAGAT	0.673													16	58	---	---	---	---					
JRK	8629	broad.mit.edu	37	8	143746052	143746052	+	RNA	DEL	C	C	-	rs17846351		TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr8:143746052delC	ENST00000507178.2	-	0	1758									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				atctcctccgccgtcctggtc	0.652													11	13	---	---	---	---					
FPGS	2356	broad.mit.edu	37	9	130575629	130575629	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr9:130575629delC	ENST00000373225.3	+	15	1569	c.1360delC	c.(1360-1362)ccfs	p.P454fs	FPGS_ENST00000393706.2_Frame_Shift_Del_p.P478fs|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373247.2_Frame_Shift_Del_p.P504fs	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	504					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GCTTCTGGCGCCCCACCCACC	0.657													14	45	---	---	---	---					
NUP98	4928	broad.mit.edu	37	11	3789935	3789935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:3789935delC	ENST00000324932.7	-	8	1244	c.824delG	c.(823-825)gcfs	p.G275fs	NUP98_ENST00000397004.4_Frame_Shift_Del_p.G275fs|NUP98_ENST00000397007.4_Frame_Shift_Del_p.G275fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.G275fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.G275fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	275	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATTCTGTTGGCCAAAGAGACC	0.388			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								20	69	---	---	---	---					
EHF	26298	broad.mit.edu	37	11	34670626	34670627	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr11:34670626_34670627insTG	ENST00000257831.3	+	4	525_526	c.404_405insTG	c.(403-405)agafs	p.R135fs	EHF_ENST00000450654.2_Frame_Shift_Ins_p.R135fs|EHF_ENST00000533754.1_Frame_Shift_Ins_p.R135fs|EHF_ENST00000530286.1_Frame_Shift_Ins_p.R135fs|EHF_ENST00000531794.1_Frame_Shift_Ins_p.R157fs	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	135					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ACTGAACAAACTGGTGAGTAGT	0.525													16	119	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26640067	26640068	+	Frame_Shift_Ins	INS	-	-	G			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr12:26640067_26640068insG	ENST00000381340.3	-	40	5903_5904	c.5487_5488insC	c.(5485-5490)actagafs	p.R1830fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1830					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCTAAATCTATGGTATTAACTG	0.347													26	73	---	---	---	---					
ERO1L	30001	broad.mit.edu	37	14	53118989	53118990	+	Frame_Shift_Ins	INS	-	-	A			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr14:53118989_53118990insA	ENST00000395686.3	-	13	1315_1316	c.1092_1093insT	c.(1090-1095)ttctggfs	p.W365fs		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	365					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TTATCCCCAGCAAAAAATGAAT	0.277													11	68	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1																						actctgtctcaaaaaaaaaaa	0.413													5	3	---	---	---	---					
C15orf59	388135	broad.mit.edu	37	15	74032484	74032485	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr15:74032484_74032485delGG	ENST00000569673.1	-	3	1859_1860	c.655_656delCC	c.(655-657)tfs	p.P219fs	C15orf59_ENST00000379822.4_Frame_Shift_Del_p.P219fs|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	219										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCAGGCTCAGGGGGCAAGCcc	0.639													11	25	---	---	---	---					
TRIM72	493829	broad.mit.edu	37	16	31230629	31230629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr16:31230629delG	ENST00000322122.3	+	4	790	c.506delG	c.(505-507)cgfs	p.R169fs		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	169					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						CGTCAGTTCCGGGGGGCCGTG	0.657													21	51	---	---	---	---					
ZNF18	7566	broad.mit.edu	37	17	11894342	11894342	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:11894342delC	ENST00000322748.3	-	5	1130	c.526delG	c.(526-528)agfs	p.E176fs	ZNF18_ENST00000580306.1_Frame_Shift_Del_p.E176fs|ZNF18_ENST00000580613.1_Frame_Shift_Del_p.E125fs|ZNF18_ENST00000454073.3_Frame_Shift_Del_p.E176fs	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	176					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CTCAGAAGCTCCCCAGGCCCT	0.522													57	183	---	---	---	---					
EFCAB5	374786	broad.mit.edu	37	17	28418935	28418935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr17:28418935delC	ENST00000394835.3	+	21	4176	c.3984delC	c.(3982-3984)ttfs	p.F1328fs	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Frame_Shift_Del_p.F1204fs	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1328							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTCTTCTTCCGAATCATGC	0.428													8	55	---	---	---	---					
KRTAP12-3	386683	broad.mit.edu	37	21	46078065	46078065	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr21:46078065delC	ENST00000397907.1	+	1	217	c.169delC	c.(169-171)ccfs	p.P57fs	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	57	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGTGTGCGTGCCCGTGAGCTG	0.647													16	95	---	---	---	---					
CACNG2	10369	broad.mit.edu	37	22	36960739	36960743	+	Frame_Shift_Del	DEL	TGGCC	TGGCC	-			TCGA-97-8172-01A-11D-2284-08	TCGA-97-8172-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7eeb747-75b8-4477-bfd0-63bf3084d20d	ca590e4a-4a12-48a8-b2bf-2c02061fd2d3	g.chr22:36960739_36960743delTGGCC	ENST00000300105.6	-	4	1608_1612	c.627_631delGGCCA	c.(625-633)cgcgfs	p.RAT209fs		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	209					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGCGGGCCGTGGCCCGCAGCTGTT	0.673													25	131	---	---	---	---