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
KCNJ11	3767	broad.mit.edu	37	11	17408995	17408995	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:17408995A>G	ENST00000339994.4	-	1	1211	c.644T>C	c.(643-645)aTc>aCc	p.I215T	KCNJ11_ENST00000528731.1_Missense_Mutation_p.I128T	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	128						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CTGCATGTGGATGGTGGCGCT	0.637000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	50					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51466567	51466567	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:51466567T>C	ENST00000376851.3	-	4	875	c.436A>G	c.(436-438)Aca>Gca	p.T146A	KLK6_ENST00000376853.4_Intron|KLK6_ENST00000456750.2_Missense_Mutation_p.T39A|KLK6_ENST00000391808.1_Missense_Mutation_p.T39A|KLK6_ENST00000594641.1_Missense_Mutation_p.T146A|KLK6_ENST00000310157.2_Missense_Mutation_p.T146A|CTB-147C22.8_ENST00000601506.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	146	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CCATCTGCTGTCTTGCCCCAG	0.612000													20	94					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869101	52869101	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:52869101A>G	ENST00000601151.1	+	5	793	c.341A>G	c.(340-342)cAt>cGt	p.H114R	ZNF610_ENST00000327920.8_Missense_Mutation_p.H157R|ZNF610_ENST00000403906.3_Missense_Mutation_p.H157R|ZNF610_ENST00000321287.8_Missense_Mutation_p.H157R	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TTTACAAACCATCGTTCCTCA	0.343000													31	125					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42144411	42144411	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr15:42144411C>T	ENST00000320955.6	-	62	10780	c.10553G>A	c.(10552-10554)gGa>gAa	p.G3518E		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3518					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGCTGTGCTCCTAGCCCCTG	0.672000													10	26					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105915092	105915092	+	Silent	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:105915092C>T	ENST00000393359.2	-	3	1185	c.759G>A	c.(757-759)gcG>gcA	p.A253A	TGFBRAP1_ENST00000258449.1_Silent_p.A253A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	253	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AGGACACAGCCGCCCCAATCA	0.537000													22	78					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38958446	38958446	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:38958446G>A	ENST00000355481.4	+	25	3506	c.3375G>A	c.(3373-3375)ggG>ggA	p.G1125G	RYR1_ENST00000360985.3_Silent_p.G1125G|RYR1_ENST00000359596.3_Silent_p.G1125G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1125	6 X approximate repeats.|B30.2/SPRY 2.				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)	TCTTCAATGGGCACCGCGTGG	0.627000													17	63					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	34000498	34000498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr22:34000498G>A	ENST00000354992.2	-	6	1109	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	LARGE_ENST00000397394.2_Nonsense_Mutation_p.Q180*|LARGE_ENST00000437602.2_Nonsense_Mutation_p.Q180*|LARGE_ENST00000402320.1_Nonsense_Mutation_p.Q180*|LARGE_ENST00000337431.2_Nonsense_Mutation_p.Q180*	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	180					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCCAGGATCTGCTCCGCAATG	0.572000													25	60					0	0	1	0	0
ZAK	51776	broad.mit.edu	37	2	174123463	174123463	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:174123463G>A	ENST00000375213.3	+	17	1474	c.1396G>A	c.(1396-1398)Gat>Aat	p.D466N	MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.D466N	NM_016653.2	NP_057737.2																					GATGGATGGGGATGAAATTGC	0.323000													6	13					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379542	379542	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:379542G>A	ENST00000329962.6	+	15	2329	c.2329G>A	c.(2329-2331)Gtc>Atc	p.V777I		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	777						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)		GTCCGAGTACGTCTTCCTGCG	0.736000													3	12					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128492930	128492930	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:128492930G>A	ENST00000325888.8	+	37	6314	c.6053G>A	c.(6052-6054)cGc>cAc	p.R2018H	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R1985H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2018					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGAGCGTGCGCAAGAGTGGC	0.637000													4	96					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135496331	135496331	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:135496331G>A	ENST00000394143.1	+	25	9341	c.9050G>A	c.(9049-9051)cGg>cAg	p.R3017Q	GPR112_ENST00000287534.4_Missense_Mutation_p.R2736Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2812Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2812Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R3017Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3017					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGGAGCAGCCGGTGTCAGATA	0.353000													30	171					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123275098	123275098	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr4:123275098G>A	ENST00000264501.4	+	82	14604	c.14231G>A	c.(14230-14232)cGc>cAc	p.R4744H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4744H			Q2LD37	K1109_HUMAN	KIAA1109	4744					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACAAGGCGTCGCCATGAAAAT	0.398000													13	50					0	0	1	0	0
FABP12	646486	broad.mit.edu	37	8	82437355	82437355	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr8:82437355C>T	ENST00000360464.4	-	4	411	c.348_splice	c.e4-1	p.E117_splice	RP11-257P3.3_ENST00000523380.1_RNA|RP11-257P3.3_ENST00000518637.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	117							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						ACAGTACTTTCCTACAAGACA	0.333000													3	6					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675044	21675044	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:21675044C>T	ENST00000379499.2	-	1	1404	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	288										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCGTGCCCTGCGCCCCCCCAC	0.697000													3	29					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15696908	15696908	+	Splice_Site	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:15696908T>C	ENST00000281513.5	-	3	233	c.209_splice	c.e3+1	p.S70_splice	NBAS_ENST00000441750.1_Splice_Site_p.S70_splice	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	70										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGACTCACCTGTACCAGATG	0.284000													50	13					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71495489	71495489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr8:71495489G>A	ENST00000521425.1	-	10	1739	c.703C>T	c.(703-705)Cga>Tga	p.R235*	TRAM1_ENST00000536748.1_Nonsense_Mutation_p.R290*|TRAM1_ENST00000262213.2_Nonsense_Mutation_p.R321*			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	321	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CTCCACCTTCGAAGCTGAAAA	0.378000													8	33					0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49376951	49376951	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:49376951C>A	ENST00000200453.5	+	2	730	c.461C>A	c.(460-462)tCt>tAt	p.S154Y		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	154	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTGCAAGGTTCTGATAAGAAC	0.542000													4	121					0.150653	0.150653	1	1	0
COIL	8161	broad.mit.edu	37	17	55027784	55027784	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:55027784C>A	ENST00000240316.4	-	2	853	c.819G>T	c.(817-819)gaG>gaT	p.E273D		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	273						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTGGTAATTTCTCTGAGGAAT	0.443000													30	105					3.65163e-15	3.97383e-15	1	1	0
FHL1	2273	broad.mit.edu	37	X	135288733	135288733	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:135288733G>A	ENST00000543669.1	+	2	853	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	FHL1_ENST00000345434.3_Missense_Mutation_p.G48S|FHL1_ENST00000535737.1_Missense_Mutation_p.G48S|FHL1_ENST00000394155.2_Missense_Mutation_p.G48S|FHL1_ENST00000394153.2_Missense_Mutation_p.G48S|FHL1_ENST00000370676.3_Missense_Mutation_p.G64S|FHL1_ENST00000539015.1_Missense_Mutation_p.G77S|FHL1_ENST00000370683.1_Missense_Mutation_p.G64S|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370690.3_Missense_Mutation_p.G48S	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	48	LIM zinc-binding 1.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.G48S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CAAGCCCATCGGTGCGGACTC	0.562000													61	276					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987983	61987983	+	Silent	SNP	G	G	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr13:61987983G>T	ENST00000409186.1	-	5	2354	c.249C>A	c.(247-249)ggC>ggA	p.G83G	PCDH20_ENST00000409204.4_Silent_p.G83G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	56	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CGGCCAGGCTGCCGATGAGCA	0.687000													5	23					1.23904e-05	1.26177e-05	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													6	98					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418370	23418370	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:23418370G>A	ENST00000302291.4	-	4	3186	c.2385C>T	c.(2383-2385)agC>agT	p.S795S	LUZP1_ENST00000374623.3_Silent_p.S795S|LUZP1_ENST00000418342.1_Silent_p.S795S|LUZP1_ENST00000314174.5_Silent_p.S795S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	795						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		ATATAGTAATGCTACTTGTCA	0.507000													15	46					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31792926	31792926	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr14:31792926C>T	ENST00000543095.2	-	24	3816	c.3632G>A	c.(3631-3633)cGt>cAt	p.R1211H	HEATR5A_ENST00000439727.1_Missense_Mutation_p.R918H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1205H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1205H	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1205							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTTTTCATCACGTCTGGTGGT	0.413000													18	60					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44865722	44865722	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr15:44865722G>A	ENST00000558319.1	-	32	6258	c.6228C>T	c.(6226-6228)tcC>tcT	p.S2076S	SPG11_ENST00000535302.2_Intron|SPG11_ENST00000261866.7_Intron|SPG11_ENST00000427534.2_Intron			Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	0					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGAGAGGTTGGGAATCCCCGG	0.502000													4	27					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106844589	106844589	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:106844589C>T	ENST00000276185.4	+	16	3419	c.3419C>T	c.(3418-3420)gCg>gTg	p.A1140V				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1140						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGGGAGAAGGCGCAGCTGGAG	0.632000													9	61					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114515704	114515704	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:114515704G>A	ENST00000369558.1	+	16	3435	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H	HIPK1_ENST00000369555.2_Missense_Mutation_p.R1023H|HIPK1_ENST00000369553.1_Missense_Mutation_p.R674H|HIPK1_ENST00000369554.2_Missense_Mutation_p.R1023H|HIPK1_ENST00000426820.2_Missense_Mutation_p.R1068H|HIPK1_ENST00000369561.4_Missense_Mutation_p.R1034H|HIPK1_ENST00000340480.4_Missense_Mutation_p.R694H|HIPK1_ENST00000406344.1_Missense_Mutation_p.R674H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1068	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGCCCCCCGCAGGCAGCAG	0.627000													5	269					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5528493	5528493	+	Silent	SNP	T	T	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:5528493T>G	ENST00000379019.4	-	20	2045	c.1833A>C	c.(1831-1833)atA>atC	p.I611I	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	611	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TCCAATCATATATCCTATGAT	0.373000													28	169					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5950982	5950982	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:5950982G>A	ENST00000378156.4	-	17	2515	c.2250C>T	c.(2248-2250)gaC>gaT	p.D750D	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	750					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCCCAGACGTCAATCTGCA	0.637000													3	27					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155240608	155240608	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:155240608C>T	ENST00000368361.4	-	2	476	c.161G>A	c.(160-162)cGt>cAt	p.R54H	CLK2_ENST00000361168.5_Missense_Mutation_p.R54H|CLK2_ENST00000355560.4_Missense_Mutation_p.R54H|CLK2_ENST00000536801.1_Missense_Mutation_p.R54H			P49760	CLK2_HUMAN	CDC-like kinase 2	54						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTTCGAGAACGGACATGGTA	0.498000								Other conserved DNA damage response genes					33	129					0	0	1	0	0
SMAD5	4090	broad.mit.edu	37	5	135508250	135508250	+	Silent	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr5:135508250T>C	ENST00000545279.1	+	6	1263	c.903T>C	c.(901-903)gaT>gaC	p.D301D	SMAD5_ENST00000545620.1_Silent_p.D301D|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	301	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATTCACAGATCCTTCAAATA	0.343000													18	79					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44248010	44248010	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr6:44248010C>T	ENST00000371505.4	-	5	1536	c.1414G>A	c.(1414-1416)Gca>Aca	p.A472T	TCTE1_ENST00000371504.1_Missense_Mutation_p.A169T|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.A169T	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	472										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTCGGTTTGCGTAGAGGGCC	0.557000													4	146					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													6	103					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789497	6789497	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:6789497T>C	ENST00000338569.2	-	1	789	c.692A>G	c.(691-693)aAt>aGt	p.N231S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTCCCCTCATTTGATGGCAT	0.493000													12	49					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39831887	39831887	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:39831887G>A	ENST00000309060.3	-	4	2085	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A557V|ZHX3_ENST00000559234.1_Missense_Mutation_p.A557V|ZHX3_ENST00000432768.2_Missense_Mutation_p.A557V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A557V|ZHX3_ENST00000560361.1_Missense_Mutation_p.A557V			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	557					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGGTATCATCGCTCTGGAGCC	0.522000													24	130					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46521491	46521491	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:46521491C>T	ENST00000262741.5	-	7	1606	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	PIK3R3_ENST00000540385.1_Missense_Mutation_p.R352Q|PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R306Q|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R306Q|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000488808.1_5'UTR	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	306					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	p.R306Q(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TCGGATCTTTCGCAGCTGGAT	0.453000													4	159					0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969703	240969703	+	Silent	SNP	G	G	A	rs142836659	by1000genomes	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:240969703G>A	ENST00000402971.2	-	1	203	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCTCCAGACGATGAGGATGA	0.582000													61	88					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87037495	87037495	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:87037495C>T	ENST00000265723.4	-	25	3248	c.3137G>A	c.(3136-3138)cGa>cAa	p.R1046Q	ABCB4_ENST00000359206.3_Missense_Mutation_p.R1046Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.R999Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.R1046Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R999Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1046	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CACGTTTGCTCGGGTGGGATA	0.458000													14	56					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243449654	243449654	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:243449654A>C	ENST00000366541.3	+	5	619	c.501A>C	c.(499-501)caA>caC	p.Q167H	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q22H|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q167H|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.Q167H	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	167					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TAAAATCTCAAAGACAAGAGG	0.358000													17	61					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64401688	64401688	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr6:64401688C>T	ENST00000262043.3	+	5	2591	c.2251C>T	c.(2251-2253)Ctt>Ttt	p.L751F	PHF3_ENST00000393387.1_Missense_Mutation_p.L751F			Q92576	PHF3_HUMAN	PHD finger protein 3	751					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGGGTTAAGTCTTTCTCAAGC	0.393000													34	142					0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44871427	44871427	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr10:44871427C>T	ENST00000374426.2	-	4	357	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CTTCTTCTGTCGCTTCTTTTT	0.393000													4	100					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33282955	33282955	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr6:33282955G>A	ENST00000431845.2	-	2	1890	c.1739C>T	c.(1738-1740)aCt>aTt	p.T580I	ZBTB22_ENST00000418724.1_Missense_Mutation_p.T580I	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCCGTGGGAGTCCCAGGCCC	0.706000													43	19					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64159482	64159482	+	Silent	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr10:64159482C>T	ENST00000395254.3	+	5	1438	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.G386G(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGGGGTTTGGCCGCAAAGGCA	0.537000													4	186					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41514481	41514481	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:41514481C>T	ENST00000402904.2	-	11	1525	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E	SCMH1_ENST00000456518.2_Missense_Mutation_p.G228E|SCMH1_ENST00000397171.2_Missense_Mutation_p.G325E|SCMH1_ENST00000397174.2_Missense_Mutation_p.G366E|SCMH1_ENST00000372595.1_Missense_Mutation_p.G325E|SCMH1_ENST00000372596.1_Missense_Mutation_p.G325E|SCMH1_ENST00000372597.1_Missense_Mutation_p.G339E|SCMH1_ENST00000361705.3_Missense_Mutation_p.G339E|SCMH1_ENST00000361191.5_Missense_Mutation_p.G325E|SCMH1_ENST00000337495.5_Missense_Mutation_p.G396E|SCMH1_ENST00000326197.7_Missense_Mutation_p.G386E	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	386					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ACGGGCTGGTCCAAAATGGTC	0.507000													44	164					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017504	101017504	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:101017504G>A	ENST00000537247.1	+	10	1563	c.609G>A	c.(607-609)tcG>tcA	p.S203S	GAS2L3_ENST00000539410.1_Silent_p.S307S|GAS2L3_ENST00000547754.1_Silent_p.S307S|GAS2L3_ENST00000266754.5_Silent_p.S307S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	307					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TACCTGATTCGCCTGCCAGAA	0.378000													19	59					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430085	43430085	+	RNA	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:43430085C>T	ENST00000406070.2	-	0	1179				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATACTGTGCCGGTGGGTTAG	0.463000													61	311					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62599268	62599268	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:62599268G>A	ENST00000450537.1	-	2	96	c.36C>T	c.(34-36)ctC>ctT	p.L12L	ZNF512B_ENST00000217130.3_Silent_p.L12L|ZNF512B_ENST00000369888.1_Silent_p.L12L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L12L(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGACCCCGGGAGCCGACGGC	0.597000													56	79					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	100990290	100990290	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr8:100990290C>A	ENST00000360863.6	-	23	3568	c.3374G>T	c.(3373-3375)gGg>gTg	p.G1125V	RGS22_ENST00000523437.1_Missense_Mutation_p.G1113V|RGS22_ENST00000523287.1_Missense_Mutation_p.G944V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1125	RGS 2.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.G1125V(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAACAGAACCCCAAAAATTGT	0.269000													6	19					8.12818e-05	8.20208e-05	1	1	0
ZNF792	126375	broad.mit.edu	37	19	35450454	35450454	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:35450454C>T	ENST00000404801.1	-	4	691	c.305G>A	c.(304-306)gGc>gAc	p.G102D	ZNF792_ENST00000605484.1_Missense_Mutation_p.G35D	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TAAGTCCTTGCCCTCTGTTCC	0.498000													15	64					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150440107	150440107	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:150440107A>G	ENST00000358647.3	+	3	1247	c.880A>G	c.(880-882)Ata>Gta	p.I294V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTGTGCAGCATACTTTTTTT	0.378000													9	50					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118596639	118596639	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr6:118596639G>A	ENST00000360388.4	+	5	856	c.655G>A	c.(655-657)Ggg>Agg	p.G219R		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	219					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TAAGCTGGTAGGGGACCTTCT	0.448000													14	40					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36615501	36615501	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:36615501C>T	ENST00000311485.3	-	2	379	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	73					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGCTGGGTAGCGAAGAGGAGG	0.453000									Familial Hemophagocytic Lymphohistiocytosis				46	86					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124728587	124728587	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr3:124728587G>A	ENST00000311127.4	-	8	3222	c.3155C>T	c.(3154-3156)cCg>cTg	p.P1052L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1052	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTACCCAACCGGGCATTTGCA	0.428000													12	29					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246587	80246587	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr4:80246587G>A	ENST00000286794.4	-	1	617	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	149	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.R149W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GAGAGATCCCGCTTCATAGCA	0.527000													15	48					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63277960	63277960	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:63277960A>G	ENST00000415491.2	+	4	1015	c.401A>G	c.(400-402)tAc>tGc	p.Y134C	LGALS12_ENST00000255684.5_Missense_Mutation_p.Y195C|LGALS12_ENST00000340246.5_Missense_Mutation_p.Y196C|LGALS12_ENST00000394618.3_Missense_Mutation_p.Y195C|LGALS12_ENST00000425950.2_Missense_Mutation_p.Y134C	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	195	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						AGCAGAGAGTACCCAGCTGGA	0.557000													11	66					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768559	117768559	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:117768559G>A	ENST00000317775.6	-	2	1001	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	NOS1_ENST00000338101.4_Missense_Mutation_p.H106Y|NOS1_ENST00000344089.3_Missense_Mutation_p.H106Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	106	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCTCCAGGTGCGTGGTGAAA	0.622000													15	44					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266021	1266021	+	Silent	SNP	C	C	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:1266021C>A	ENST00000447027.1	+	31	7978	c.7920C>A	c.(7918-7920)acC>acA	p.T2640T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2637T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2637	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAGCACAACCACCACACCCA	0.632000													51	87					1.86277e-20	2.06767e-20	1	1	0
GABRE	2564	broad.mit.edu	37	X	151129820	151129820	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:151129820C>G	ENST00000370325.1	-	5	634	c.581G>C	c.(580-582)gGa>gCa	p.G194A	GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370328.3_Missense_Mutation_p.G194A			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	194					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTGAGCATCCGGCATCAAT	0.507000													29	121					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472569	2472569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:2472569G>T	ENST00000258711.6	+	2	430	c.295G>T	c.(295-297)Gag>Tag	p.E99*		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	99					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GAGCATGGAGGAGAGCGTGAG	0.682000													29	121					1.1904e-30	1.3347e-30	1	1	0
PCLO	27445	broad.mit.edu	37	7	82544172	82544172	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:82544172G>T	ENST00000423517.2	-	7	13467	c.13130C>A	c.(13129-13131)gCa>gAa	p.A4377E	PCLO_ENST00000333891.8_Missense_Mutation_p.A4377E|PCLO_ENST00000437081.1_Missense_Mutation_p.A1097E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4308					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						GGGTCCAGCTGCAGCCCTGGC	0.507000													14	68					3.27435e-08	3.49474e-08	1	1	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			46	26					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150460440	150460440	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:150460440C>G	ENST00000369064.3	+	2	207	c.173C>G	c.(172-174)cCc>cGc	p.P58R	TARS2_ENST00000438568.2_Missense_Mutation_p.P58R|TARS2_ENST00000606933.1_Missense_Mutation_p.P58R|TARS2_ENST00000369054.2_Missense_Mutation_p.P58R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	58					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAGGAACCCCGGACTATT	0.547000													19	60					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	65					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11288886	11288886	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:11288886G>A	ENST00000361445.4	-	19	2945	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	957					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CGGAAGATCCGCATCAGGGCC	0.502000													4	135					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141665476	141665476	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:141665476G>A	ENST00000389484.3	-	22	4461	c.3490C>T	c.(3490-3492)Cct>Tct	p.P1164S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1164	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGCCATCAGGACAATCCTTT	0.438000										TSP Lung(27;0.18)			40	173					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41088843	41088843	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:41088843G>A	ENST00000324545.7	+	43	7875	c.7242G>A	c.(7240-7242)aaG>aaA	p.K2414K	USP9X_ENST00000378308.2_Silent_p.K2414K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2414					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTAAAAGAAAGTGGACCTGGG	0.393000													14	53					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12409370	12409370	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:12409370G>A	ENST00000358136.3	+	46	9500	c.9370G>A	c.(9370-9372)Gaa>Aaa	p.E3124K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3099K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3123					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGACTGCAGAAATTAGTAG	0.458000													28	143					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr16:90161902A>G	ENST00000567960.1	+	0	638				TUBB8P7_ENST00000564451.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													7	63					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:43411250G>A	ENST00000187910.2	-	5	1129	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448000													5	453					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81528729	81528729	+	Silent	SNP	C	C	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:81528729C>G	ENST00000548058.1	+	3	1501	c.591C>G	c.(589-591)ctC>ctG	p.L197L	ACSS3_ENST00000261206.3_Silent_p.L196L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	197						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCCACAGTCTCATATTTGGAG	0.403000													13	36					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887326	12887326	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:12887326T>C	ENST00000535591.1	-	3	726	c.531A>G	c.(529-531)atA>atG	p.I177M		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	177										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGATGGGCAGTATCCACTTGC	0.488000													111	486					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613477	72613477	+	Silent	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:72613477C>T	ENST00000392619.1	-	2	284	c.249G>A	c.(247-249)acG>acA	p.T83T	CD300E_ENST00000328630.3_Silent_p.T56T|CD300E_ENST00000426295.2_Silent_p.T97T	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	56	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						TCTCACATGACGTGTCGTACT	0.552000													19	80					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973711	128973711	+	Missense_Mutation	SNP	C	C	T	rs143223796		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr10:128973711C>T	ENST00000522781.1	-	4	1504	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.E317K	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	317										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCACTACATTCGGGGGACAGG	0.647000													24	69					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841485	8841485	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:8841485C>A	ENST00000324060.2	+	1	170	c.95C>A	c.(94-96)gCt>gAt	p.A32D		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCTGGTGGCTGTCATGTTT	0.542000													20	77					3.51602e-12	3.78911e-12	1	1	0
SLFN13	146857	broad.mit.edu	37	17	33771991	33771991	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:33771991A>C	ENST00000285013.6	-	3	984	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	SLFN13_ENST00000542635.1_Missense_Mutation_p.F237V|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.F237V|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Missense_Mutation_p.F237V	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	237						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTGTTTGCAAATGCAGAGATG	0.388000													28	116					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803958	23803958	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr4:23803958C>T	ENST00000264867.2	-	11	2149	c.2030G>A	c.(2029-2031)cGt>cAt	p.R677H	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	677	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATAAATCACACGGCGCTCTTC	0.507000													23	84					0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77236375	77236375	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr14:77236375C>T	ENST00000167106.4	+	2	1012	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	VASH1_ENST00000554237.1_Missense_Mutation_p.R127C|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	127					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGCTGTGCAGCGCTACATCAG	0.592000													24	86					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58124354	58124354	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:58124354G>A	ENST00000257897.3	-	12	1429	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	AGAP2_ENST00000547588.1_Silent_p.S784S	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	784	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GTGGCTGCAGGGAACTGGGGC	0.572000													37	144					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138604075	138604075	+	Silent	SNP	G	G	A	rs148061561	by1000genomes	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:138604075G>A	ENST00000440172.1	-	2	345	c.297C>T	c.(295-297)ccC>ccT	p.P99P	KIAA1549_ENST00000422774.1_Silent_p.P99P|KIAA1549_ENST00000242365.4_Silent_p.P49P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	99						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCTGGGAGCCGGGAGCAGTTT	0.517000			O	BRAF	pilocytic astrocytoma								4	104					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	193044385	193044385	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:193044385A>G	ENST00000409056.3	-	4	447	c.448T>C	c.(448-450)Tgc>Cgc	p.C150R	TMEFF2_ENST00000392314.1_Intron|TMEFF2_ENST00000272771.5_Intron			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	0						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GTAAAAAGGCAACTCCTACCT	0.299000													12	30					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													9	62					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36121659	36121659	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr9:36121659G>A	ENST00000377966.3	+	20	3234	c.2668G>A	c.(2668-2670)Gtc>Atc	p.V890I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	890						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GATCATTCCCGTCGATCACTA	0.458000													33	132					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229463	140229463	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr5:140229463G>A	ENST00000378122.3	+	1	2107	c.1383G>A	c.(1381-1383)acG>acA	p.T461T	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.T461T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGTACACGGTGTTCGTGA	0.667000													42	139					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47571600	47571600	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr21:47571600T>G	ENST00000397748.1	-	5	551	c.508A>C	c.(508-510)Agt>Cgt	p.S170R	FTCD_ENST00000291670.5_Missense_Mutation_p.S170R|FTCD_ENST00000359679.2_Missense_Mutation_p.S170R|FTCD_ENST00000397743.1_Missense_Mutation_p.S170R|FTCD_ENST00000355384.2_Missense_Mutation_p.S170R|FTCD_ENST00000498355.2_5'UTR|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Missense_Mutation_p.S170R			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	170	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCCCCCCAACTGGGGACAAAG	0.627000													20	55					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338000													7	96					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476846	42476846	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:42476846G>A	ENST00000434000.1	-	9	2647	c.2365C>T	c.(2365-2367)Cgg>Tgg	p.R789W	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R867W			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	867						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TAAGAACGCCGGGAGGAACGA	0.537000													4	113					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60694805	60694805	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:60694805G>A	ENST00000005286.4	+	2	383	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R77Q	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	77						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGAGCTCCCGATCTGAGACC	0.642000													4	154					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80620353	80620353	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:80620353A>T	ENST00000466387.1	+	12	1798	c.1074A>T	c.(1072-1074)aaA>aaT	p.K358N	CTNNA2_ENST00000361291.4_Missense_Mutation_p.K392N|CTNNA2_ENST00000343114.3_Missense_Mutation_p.K37N|CTNNA2_ENST00000541047.1_Missense_Mutation_p.K358N|CTNNA2_ENST00000540488.1_Missense_Mutation_p.K358N|CTNNA2_ENST00000402739.4_Missense_Mutation_p.K358N|CTNNA2_ENST00000496558.1_Missense_Mutation_p.K358N			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	358					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGAAAGAAAAAGGAGATCCTC	0.279000													13	260					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20618684	20618684	+	Silent	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr4:20618684T>C	ENST00000504154.1	+	35	4251	c.3999T>C	c.(3997-3999)tgT>tgC	p.C1333C	SLIT2_ENST00000503837.1_Silent_p.C1329C|SLIT2_ENST00000273739.5_Silent_p.C1346C|SLIT2_ENST00000503823.1_Silent_p.C1325C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1333	EGF-like 7.|Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCCTGGCTGTGAGCCATGCC	0.592000													19	86					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956761	16956761	+	RNA	SNP	C	C	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:16956761C>G	ENST00000412962.1	-	0	294																											CCTGGACCTGCCCTGGGGCAG	0.647000													3	3					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731531	140731531	+	Silent	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr5:140731531C>T	ENST00000523390.1	+	1	1704	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATGGCTCCGCCCTCTTCG	0.677000													15	70					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762522	53762522	+	Silent	SNP	C	C	A	rs143089101	byFrequency	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:53762522C>A	ENST00000341702.3	+	1	978	c.894C>A	c.(892-894)atC>atA	p.I298I	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	298					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TACAACACATCTGTAGGAACA	0.493000													69	93					9.07738e-34	1.02815e-33	1	1	0
GIF	2694	broad.mit.edu	37	11	59612919	59612919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:59612919C>T	ENST00000257248.2	-	1	55	c.8G>A	c.(7-9)tGg>tAg	p.W3*	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	3					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GAGGGCAAACCAGGCCATCTC	0.478000													24	137					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57760065	57760065	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr16:57760065G>A	ENST00000360716.3	+	14	2065	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	CCDC135_ENST00000394337.4_Missense_Mutation_p.R615H|CCDC135_ENST00000336825.8_Missense_Mutation_p.R550H			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	615						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCGGAGGAGCGCATCCAGCTG	0.632000													4	119					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223619	67223619	+	Silent	SNP	G	G	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:67223619G>T	ENST00000438189.2	+	3	356	c.12G>T	c.(10-12)ccG>ccT	p.P4P	CABP4_ENST00000325656.5_Intron			P57796	CABP4_HUMAN	calcium binding protein 4	0					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGACAGAGCCGTGGCTGGCCC	0.657000													10	71					1.58986e-06	1.63403e-06	1	1	0
LMTK2	22853	broad.mit.edu	37	7	97833262	97833262	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:97833262G>A	ENST00000297293.5	+	13	4540	c.4247G>A	c.(4246-4248)gGc>gAc	p.G1416D		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1416					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTAGGTGGTGGCTTTGAGTGG	0.493000													74	159					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52986206	52986206	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:52986206T>C	ENST00000293745.2	-	4	857	c.772A>G	c.(772-774)Aaa>Gaa	p.K258E	KRT72_ENST00000354310.4_Missense_Mutation_p.K258E|KRT72_ENST00000398066.3_Missense_Mutation_p.K70E|KRT72_ENST00000537672.2_Missense_Mutation_p.K258E	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	258	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTGAAGAATTTAATCTCATCT	0.502000													16	54					0	0	1	0	0
CELA3A	10136	broad.mit.edu	37	1	22336270	22336270	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:22336270G>T	ENST00000290122.3	+	7	734	c.715G>T	c.(715-717)Gtt>Ttt	p.V239F		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACCAGCTTTGTTTCTGCCTT	0.612000													4	67					1.06961e-07	1.12007e-07	1	1	0
SIPA1	6494	broad.mit.edu	37	11	65410029	65410029	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:65410029G>A	ENST00000394224.3	+	4	1199	c.903G>A	c.(901-903)ccG>ccA	p.P301P	SIPA1_ENST00000534313.1_Silent_p.P301P|SIPA1_ENST00000394227.3_Silent_p.P301P|SIPA1_ENST00000527525.1_Silent_p.P301P	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	301					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACGTGGCGCCGCAGCTGAGCC	0.692000													5	23					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057173	120057174	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:120057173_120057174delCT	ENST00000235547.6	+	4	1172_1173	c.1033_1034delCT	c.(1033-1035)cfs	p.L345fs	HSD3B1_ENST00000369413.3_Frame_Shift_Del_p.L343fs|HSD3B1_ENST00000528909.1_Frame_Shift_Del_p.L343fs	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	343					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GTATAAGCCACTCTACAGCTGG	0.510													18	97	---	---	---	---					
HDGF	3068	broad.mit.edu	37	1	156714066	156714068	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:156714066_156714068delCTT	ENST00000357325.5	-	4	690_692	c.376_378delAAG	c.(376-378)del	p.K126del	HDGF_ENST00000416666.2_In_Frame_Del_p.K94del|HDGF_ENST00000537739.1_In_Frame_Del_p.K126del|HDGF_ENST00000368206.5_In_Frame_Del_p.K142del|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368209.5_In_Frame_Del_p.K119del	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	126	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTGCATTCCCCTTCTTATCACCG	0.571													131	500	---	---	---	---					
COL7A1	1294	broad.mit.edu	37	3	48631047	48631048	+	Frame_Shift_Ins	INS	-	-	GTTG			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr3:48631047_48631048insGTTG	ENST00000328333.8	-	3	455_456	c.348_349insCAAC	c.(346-351)aactcgfs	p.S117fs	COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.S117fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	117	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTGTGCGAGTGTTGCCCCCCT	0.619													24	96	---	---	---	---					
SPAG1	6674	broad.mit.edu	37	8	101178202	101178203	+	Splice_Site	INS	-	-	TA			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr8:101178202_101178203insTA	ENST00000388798.2	+	3	491		c.e3+1		SPAG1_ENST00000251809.3_Splice_Site|SPAG1_ENST00000520508.1_Splice_Site|SPAG1_ENST00000520643.1_Splice_Site	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1						single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TGATATAAAGGTATATAGTAAT	0.381													18	40	---	---	---	---					
LOC101928823	101928823	broad.mit.edu	37	11	112332121	112332121	+	RNA	DEL	T	T	-			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:112332121delT	ENST00000528496.1	+	0	231																											TGATTTTATGTTTTTTTTTTT	0.378													2	4	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													3	5	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77791957	77791989	+	Splice_Site	DEL	GTTTTAAAAATTCCTTACAGAAAAACTTCCAAA	GTTTTAAAAATTCCTTACAGAAAAACTTCCAAA	-			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr13:77791957_77791989delGTTTTAAAAATTCCTTACAGAAAAACTTCCAAA	ENST00000407578.2	-	21	3309_3324	c.3057_splice	c.e21+1	p.1015_splice	MYCBP2_ENST00000357337.6_Splice_Site_p.977_splice|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Splice_Site_p.977_splice	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	977					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TATTATTAATGTTTTAAAAATTCCTTACAGAAAAACTTCCAAATGTGAAGACC	0.335													9	58	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													3	6	---	---	---	---					
