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
ATP4A	495	broad.mit.edu	37	19	36046221	36046221	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr19:36046221C>T	ENST00000262623.3	-	15	2201	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	725					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCCCCCGTGACGGCCACAATC	0.632000													4	35					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859836	38859836	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:38859836C>T	ENST00000264651.2	-	1	166	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	37	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGCCGAGCTGCCCCCCAGACC	0.662000													46	68					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377236	138377236	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:138377236C>T	ENST00000356818.2	+	4	1429	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	PPP1R26_ENST00000604351.1_Missense_Mutation_p.R294W|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R294W|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R294W|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R294W	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	294						nucleolus	protein binding										CAAACCTCCCCGGTTAGCGAA	0.617000													26	124					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288165	202288165	+	Silent	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:202288165C>T	ENST00000367278.3	+	18	2823	c.2734C>T	c.(2734-2736)Ctg>Ttg	p.L912L	LGR6_ENST00000255432.7_Silent_p.L860L|LGR6_ENST00000439764.2_Silent_p.L773L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	912						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCCCCCAGGCTGGAGGGCAG	0.627000													36	65					0	0	1	0	0
ALG2	85365	broad.mit.edu	37	9	101983309	101983309	+	Silent	SNP	T	T	G			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:101983309T>G	ENST00000319033.6	-	1	20	c.21A>C	c.(19-21)gtA>gtC	p.V7V	ALG2_ENST00000476832.1_Intron			Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGGAGCCATGTACAAGTTTTA	0.448000													5	213					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34937583	34937583	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr5:34937583A>C	ENST00000382021.2	+	5	818	c.591A>C	c.(589-591)aaA>aaC	p.K197N	DNAJC21_ENST00000303525.7_Missense_Mutation_p.K197N|DNAJC21_ENST00000342382.4_Missense_Mutation_p.K197N	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	197					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AAGCAAGGAAAGAGAAGAATG	0.428000													9	63					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942068	144942068	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:144942068C>T	ENST00000525985.1	-	2	5425	c.5354G>A	c.(5353-5355)cGc>cAc	p.R1785H				P58107	EPIPL_HUMAN	epiplakin 1	1785						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R1785H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCCCACGCGCATTTTTGC	0.512000													4	56					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226067	158226067	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:158226067G>A	ENST00000289429.5	+	3	1132	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	200	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CATCTCCAGCGGCAAGGTCAG	0.463000													9	74					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151271293	151271293	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:151271293C>A	ENST00000535741.1	-	48	7686	c.7213G>T	c.(7213-7215)Gtt>Ttt	p.V2405F	LRBA_ENST00000507224.1_Missense_Mutation_p.V2405F|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.V2416F|LRBA_ENST00000510413.1_Missense_Mutation_p.V2405F			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2416	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGGCAGGAAACAAATTCACTC	0.378000													21	34					1.22574e-08	1.25127e-08	1	1	0
PTDSS1	9791	broad.mit.edu	37	8	97321825	97321825	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:97321825G>A	ENST00000517309.1	+	9	1374	c.1048G>A	c.(1048-1050)Gta>Ata	p.V350I	PTDSS1_ENST00000455950.2_Missense_Mutation_p.V204I|PTDSS1_ENST00000522072.1_Missense_Mutation_p.V147I	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	350					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GTGCAAGCGCGTAGGAACACA	0.433000													21	31					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38800242	38800242	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:38800242G>T	ENST00000308979.2	-	4	484	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	TLR1_ENST00000502213.2_Missense_Mutation_p.L71M	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	71					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAAATCCTCAGTTTTGACAGT	0.333000													25	137					5.61819e-17	5.85726e-17	1	1	0
OC90	729330	broad.mit.edu	37	8	133053772	133053772	+	Splice_Site	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:133053772C>T	ENST00000262283.5	-	8	1031	c.932_splice	c.e8+1	p.S311_splice	OC90_ENST00000443356.2_Splice_Site_p.S115_splice|OC90_ENST00000603859.1_Splice_Site_p.S115_splice|OC90_ENST00000254627.3_Splice_Site_p.S115_splice			Q02509	OC90_HUMAN	otoconin 90	115					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ACTCACTTACCTGTCAGATTC	0.512000													24	35					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33481224	33481224	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr10:33481224T>C	ENST00000265371.4	-	14	2572	c.2047A>G	c.(2047-2049)Att>Gtt	p.I683V	NRP1_ENST00000374867.2_Missense_Mutation_p.I683V|NRP1_ENST00000395995.1_Missense_Mutation_p.I683V			O14786	NRP1_HUMAN	neuropilin 1	683	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGATCCTGAATGGGTCCCGTC	0.507000													115	202					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108004038	108004038	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr12:108004038T>A	ENST00000280758.5	+	5	2243	c.1715T>A	c.(1714-1716)cTg>cAg	p.L572Q	BTBD11_ENST00000490090.2_Missense_Mutation_p.L572Q|BTBD11_ENST00000420571.2_Missense_Mutation_p.L572Q|BTBD11_ENST00000357167.4_Missense_Mutation_p.L109Q|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	572						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCAGGACCTGGGTTTCCGG	0.562000											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	167					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2506782	2506782	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr16:2506782G>A	ENST00000397066.4	+	17	2210	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	708	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CGTCAGCACCGCAAGTCCCAC	0.662000													5	92					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10300223	10300223	+	Missense_Mutation	SNP	G	G	A	rs150344258		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:10300223G>A	ENST00000403437.2	-	31	4353	c.4259C>T	c.(4258-4260)aCg>aTg	p.T1420M	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1420					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCGCTGCTTCGTCTTCTCAAG	0.493000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				9	67					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7232363	7232363	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:7232363C>T	ENST00000399464.2	-	1	284	c.269G>A	c.(268-270)cGc>cAc	p.R90H	NEURL4_ENST00000315614.7_Missense_Mutation_p.R90H|NEURL4_ENST00000570460.1_Missense_Mutation_p.R90H	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGGTCGATGCGGACGGTGAA	0.667000													3	40					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128109218	128109218	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:128109218C>G	ENST00000470056.1	+	17	3246	c.3086C>G	c.(3085-3087)aCa>aGa	p.T1029R	GAPVD1_ENST00000394105.2_Missense_Mutation_p.T1083R|GAPVD1_ENST00000394083.2_Missense_Mutation_p.T1008R|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T1056R|GAPVD1_ENST00000312123.9_Missense_Mutation_p.T1035R|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T1030R|GAPVD1_ENST00000495955.1_Missense_Mutation_p.T1056R|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T1056R			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1056					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TATGAAAGTACAGGTGATAAT	0.388000													17	23					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117266884	117266884	+	Silent	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:117266884G>A	ENST00000362057.3	-	1	366	c.198C>T	c.(196-198)caC>caT	p.H66H	DFNB31_ENST00000374057.3_Silent_p.H66H	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	66					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCGGCGCGCGTGGTAAGCGT	0.677000													11	48					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								17	31					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65941667	65941667	+	Silent	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:65941667C>T	ENST00000321892.4	+	23	7282	c.7221C>T	c.(7219-7221)ccC>ccT	p.P2407P	BPTF_ENST00000424123.3_Silent_p.P2268P|BPTF_ENST00000335221.5_Silent_p.P2407P|BPTF_ENST00000306378.6_Silent_p.P2281P			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2407					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			agccccagccccaaacccagc	0.557000													14	18					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													6	19					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8159859	8159859	+	Translation_Start_Site	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:8159859A>T	ENST00000545834.1	+	0	898				PFAS_ENST00000314666.6_Missense_Mutation_p.E280V			O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGGGAAAGGAAGTCCGATTC	0.582000													5	99					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109765438	109765438	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr6:109765438G>A	ENST00000368952.4	-	25	3507	c.3217C>T	c.(3217-3219)Cgc>Tgc	p.R1073C	MICAL1_ENST00000358577.3_Missense_Mutation_p.R968C|MICAL1_ENST00000358807.3_Missense_Mutation_p.R1054C			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1054					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGAGCCTGCGCTCCTCCTGG	0.617000													26	38					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27448160	27448160	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:27448160C>T	ENST00000527372.1	-	6	1621	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	MYO18A_ENST00000354329.4_Missense_Mutation_p.A481T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A481T|MYO18A_ENST00000533112.1_Missense_Mutation_p.A481T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	481	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCCCTGTATGCGGTCTGGGCC	0.587000													3	15					0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850195	3850195	+	Silent	SNP	G	G	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr6:3850195G>T	ENST00000380274.1	+	1	576	c.150G>T	c.(148-150)tcG>tcT	p.S50S	FAM50B_ENST00000380272.3_Silent_p.S50S			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	50						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGAGGTTCTCGGCGCATTACG	0.642000													3	40					1	1	1	1	0
TENM1	10178	broad.mit.edu	37	X	123517993	123517993	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:123517993C>T	ENST00000422452.2	-	30	6851	c.6788G>A	c.(6787-6789)cGt>cAt	p.R2263H	TENM1_ENST00000371130.3_Missense_Mutation_p.R2256H|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACTCGCGACACGTCGCCCAAG	0.453000													29	145					0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136651129	136651129	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:136651129A>T	ENST00000287538.5	+	2	1679	c.1129A>T	c.(1129-1131)Aag>Tag	p.K377*	ZIC3_ENST00000370606.3_Nonsense_Mutation_p.K377*|ZIC3_ENST00000478471.1_3'UTR	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	377					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGACCGTAAGAAGCACATGCA	0.493000													10	337					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48611977	48611977	+	Missense_Mutation	SNP	G	G	A	rs148638156		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:48611977G>A	ENST00000328333.8	-	78	6507	c.6400C>T	c.(6400-6402)Cca>Tca	p.P2134S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2102S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2134	Triple-helical region.				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)		TTGATGCCTGGCACACCCTGA	0.632000													4	81					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058216	114058216	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:114058216A>T	ENST00000462705.1	-	12	2464	c.1643T>A	c.(1642-1644)cTt>cAt	p.L548H	ZBTB20_ENST00000357258.3_Missense_Mutation_p.L548H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.L548H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.L621H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.L548H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGCTTGATAAGGTAATCCTT	0.522000													33	72					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													4	102					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72357828	72357828	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr10:72357828C>T	ENST00000441259.1	-	3	1809	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	PRF1_ENST00000373209.2_Missense_Mutation_p.R550Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	550					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCCCACTCCGGTTTCCTGG	0.582000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				26	37					0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267977	103267977	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:103267977G>A	ENST00000217926.5	-	1	282	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	86					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGCACCCGGCGGAAATAGGTG	0.622000													16	76					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514217	79514217	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:79514217C>T	ENST00000537152.1	-	5	1963	c.1438G>A	c.(1438-1440)Gtc>Atc	p.V480I	C17orf70_ENST00000425898.2_Missense_Mutation_p.V280I|C17orf70_ENST00000327787.8_Missense_Mutation_p.V631I	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	631					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCGGGCAGGACGTCGGAGGGG	0.657000													36	68					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228437883	228437883	+	Silent	SNP	C	C	T	rs35326243		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:228437883C>T	ENST00000570156.2	+	15	4601	c.4527C>T	c.(4525-4527)acC>acT	p.T1509T	OBSCN_ENST00000284548.11_Silent_p.T1417T|OBSCN_ENST00000422127.1_Silent_p.T1417T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	487	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCGGACACCGGGGAGTATA	0.642000													4	192					0	0	1	0	0
STAT5A	6776	broad.mit.edu	37	17	40441527	40441527	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:40441527A>G	ENST00000345506.4	+	3	740	c.98A>G	c.(97-99)tAc>tGc	p.Y33C	STAT5A_ENST00000590949.1_Missense_Mutation_p.Y33C|STAT5A_ENST00000452307.2_Missense_Mutation_p.Y33C|STAT5A_ENST00000546010.2_Missense_Mutation_p.Y33C|STAT5A_ENST00000588868.1_Missense_Mutation_p.Y33C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	33					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Y33F(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GTCCGGCACTACTTGGCCCAG	0.652000													11	87					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73944453	73944453	+	Silent	SNP	A	A	C			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:73944453A>C	ENST00000358602.4	-	31	7430	c.7314T>G	c.(7312-7314)acT>acG	p.T2438T	ANKRD17_ENST00000330838.6_Silent_p.T2187T|ANKRD17_ENST00000509867.2_Silent_p.T2325T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2438					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGACGTTCCAGTTTGCCTGA	0.483000													15	46					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													4	14					0	0	1	0	0
LDLRAD4	753	broad.mit.edu	37	18	13645616	13645616	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr18:13645616C>T	ENST00000361205.4	+	7	1549	c.881C>T	c.(880-882)cCc>cTc	p.P294L	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P276L|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P257L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P239L|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.P196L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P217L|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.P294L	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		ACAATAGTACCCATCAAAGGC	0.557000													3	41					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49323550	49323550	+	Silent	SNP	T	T	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:49323550T>A	ENST00000351842.4	-	15	2048	c.2040A>T	c.(2038-2040)ggA>ggT	p.G680G	USP4_ENST00000265560.4_Silent_p.G727G	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	727					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TAAGTAGTTTTCCATCAGCTG	0.413000													31	43					0	0	1	0	0
UPF3B	0	broad.mit.edu	37	X	118979241	118979241	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:118979241A>T	ENST00000276201.2	-	4	458	c.389T>A	c.(388-390)aTa>aAa	p.I130K	UPF3B_ENST00000345865.2_Missense_Mutation_p.I130K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	130	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						AAATTCTACTATAGCGGGATA	0.348000													13	57					0	0	1	0	0
ZBED2	79413	broad.mit.edu	37	3	111312789	111312789	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:111312789C>T	ENST00000317012.4	-	2	1268	c.260G>A	c.(259-261)cGt>cAt	p.R87H	CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	87							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CCCAGGGCCACGGCTCACCTG	0.602000													35	66					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641314	99641314	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr14:99641314C>T	ENST00000345514.2	-	3	1912	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H	BCL11B_ENST00000443726.2_Missense_Mutation_p.R426H|BCL11B_ENST00000357195.3_Missense_Mutation_p.R620H	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	620	Glu-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GAAGGCGCCGCGCTTCTGCTT	0.751000			T	TLX3	T-ALL								5	11					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593012	101593012	+	Frame_Shift_Del	DEL	C	C	-	rs144337691		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr5:101593012delC	ENST00000310954.6	-	8	1562	c.1276delG	c.(1276-1278)ctfs	p.A426fs		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	426					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTAAAACAGCCCCTAATAAG	0.348													7	27	---	---	---	---					
FRY	10129	broad.mit.edu	37	13	32805370	32805371	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr13:32805370_32805371delAA	ENST00000380250.3	+	41	5956_5957	c.5460_5461delAA	c.(5458-5463)tcagfs	p.SK1820fs		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATCAAAATTCAAAGAGTGCTGA	0.351													10	50	---	---	---	---					
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gag>g	p.EQ906del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	906					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCGAGGTGGagcagcagcagca	0.744													4	3	---	---	---	---					
CTD-2616J11.14	0	broad.mit.edu	37	19	51900028	51900029	+	RNA	INS	-	-	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr19:51900028_51900029insT	ENST00000600765.1	+	0	108																											GCTTTTGCTTCTTTTTTTCCGT	0.307													8	1	---	---	---	---					
CUL4B	8450	broad.mit.edu	37	X	119677596	119677599	+	Frame_Shift_Del	DEL	TAAG	TAAG	-			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:119677596_119677599delTAAG	ENST00000371322.5	-	8	1300_1303	c.1239_1242delCTTA	c.(1237-1242)tafs	p.YL413fs	CUL4B_ENST00000404115.3_Frame_Shift_Del_p.YL431fs|CUL4B_ENST00000336592.6_Frame_Shift_Del_p.YL418fs	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	431					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTCTGATCTAAGTAAGTAATAA	0.343													15	62	---	---	---	---