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
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	34					0	0	0.014758	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878082	39878082	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:39878082T>C	ENST00000530275.1	+	1	1932	c.1737T>C	c.(1735-1737)tgT>tgC	p.C579C	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	579										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGTTTGTGATGAGGATG	0.423000													6	38					0	0	0.021553	0	0
FBLN1	2192	broad.mit.edu	37	22	45929029	45929029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:45929029G>C	ENST00000348697.2	+	6	778	c.631G>C	c.(631-633)Ggt>Cgt	p.G211R	FBLN1_ENST00000402984.3_Missense_Mutation_p.G249R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G211R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G211R|FBLN1_ENST00000340923.5_Missense_Mutation_p.G211R|FBLN1_ENST00000327858.6_Missense_Mutation_p.G211R			P23142	FBLN1_HUMAN	fibulin 1	211	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGTCTGATGGTGTCTCCTG	0.637000													8	35					0	0	0.038147	0	0
KLHL4	56062	broad.mit.edu	37	X	86877396	86877396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:86877396C>A	ENST00000373119.4	+	5	1255	c.1110C>A	c.(1108-1110)taC>taA	p.Y370*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.Y370*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	370						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGCTTTCTTACATCAGACTGC	0.413000													10	34					0.00010058	0.000106923	0.093190	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	44					0	0	0.009096	0	0
ELN	2006	broad.mit.edu	37	7	73474268	73474268	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474268C>T	ENST00000252034.7	+	23	1866	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	ELN_ENST00000380562.4_Silent_p.V495V|ELN_ENST00000380575.4_Silent_p.V460V|ELN_ENST00000458204.1_Silent_p.V479V|ELN_ENST00000445912.1_Silent_p.V489V|ELN_ENST00000380576.5_Silent_p.V470V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.V475V|ELN_ENST00000414324.1_Silent_p.V465V|ELN_ENST00000380553.4_Silent_p.V353V|ELN_ENST00000380584.4_Silent_p.V456V|ELN_ENST00000358929.4_Silent_p.V524V|ELN_ENST00000357036.5_Silent_p.V494V|ELN_ENST00000320399.6_Silent_p.V489V|ELN_ENST00000320492.7_Silent_p.V408V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	518	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTCCTGGTGTCGGTGTGGCTC	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						15	174					0	0	0.041601	0	0
SI	6476	broad.mit.edu	37	3	164725717	164725717	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:164725717A>G	ENST00000264382.3	-	36	4311	c.4249T>C	c.(4249-4251)Tat>Cat	p.Y1417H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1417	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAAGGTGGATAATTTAGTTCG	0.264000										HNSCC(35;0.089)			8	75					0	0	0.069234	0	0
FMN2	56776	broad.mit.edu	37	1	240492666	240492666	+	Silent	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:240492666C>A	ENST00000319653.9	+	10	4565	c.4335C>A	c.(4333-4335)ccC>ccA	p.P1445P	FMN2_ENST00000545751.1_Silent_p.P41P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1445	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACTAATCCCCAACTTTTCAG	0.363000													11	87					0.000673444	0.000709521	0.069234	1	0
SOGA3	387104	broad.mit.edu	37	6	127796911	127796911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:127796911C>T	ENST00000556132.1	-	6	3124	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K	SOGA3_ENST00000465909.2_Missense_Mutation_p.E754K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E754K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E754K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E754K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	754						integral to membrane											GCGTCGCTCTCGGCGTCGCTG	0.701000													11	83					0	0	0.093190	0	0
SETD9	133383	broad.mit.edu	37	5	56207180	56207180	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:56207180C>A	ENST00000285947.2	+	2	669	c.283C>A	c.(283-285)Caa>Aaa	p.Q95K	SETD9_ENST00000541720.1_Missense_Mutation_p.Q95K|SETD9_ENST00000475908.1_3'UTR	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN	SET domain containing 9	95																	AGTTGAACATCAAGGGGTGAA	0.363000													22	20					3.10358e-05	3.3293e-05	0.069288	1	0
MUC17	140453	broad.mit.edu	37	7	100678877	100678877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:100678877G>T	ENST00000306151.4	+	3	4244	c.4180G>T	c.(4180-4182)Gga>Tga	p.G1394*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1394	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTAGTGAAGGAACCACTCC	0.507000													91	272					4.21773e-46	4.83197e-46	0.048971	1	0
CGNL1	84952	broad.mit.edu	37	15	57730854	57730854	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:57730854C>T	ENST00000281282.5	+	2	735	c.657C>T	c.(655-657)tgC>tgT	p.C219C		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	219	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TTCGTTTATGCAGCTCCGTGG	0.527000													18	128					0	0	0.049695	0	0
NFRKB	4798	broad.mit.edu	37	11	129748208	129748208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:129748208G>A	ENST00000446488.3	-	14	1610	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	NFRKB_ENST00000524794.1_Missense_Mutation_p.R528W|NFRKB_ENST00000524746.1_Missense_Mutation_p.R503W|NFRKB_ENST00000304521.5_Missense_Mutation_p.R503W	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	503					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACTCACACCCGAGGGACAGGT	0.433000													19	20					0	0	0.062417	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246281	100246281	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:100246281G>A	ENST00000160382.5	-	7	673	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	189					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGACTTGACGATGCCTAGAA	0.597000													9	13					0	0	0.058154	0	0
TP53	7157	broad.mit.edu	37	17	7574012	7574012	+	Nonsense_Mutation	SNP	C	C	A	rs17882252		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr17:7574012C>A	ENST00000269305.4	-	10	1204	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	339	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252).|E -> Q (in a sporadic cancer; 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.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(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)		CGGAACATCTCGAAGCGCTCA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	10					0.014758	0.015411	0.014758	1	0
RSBN1	54665	broad.mit.edu	37	1	114354936	114354936	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:114354936C>T	ENST00000261441.5	-	1	162	c.99G>A	c.(97-99)gcG>gcA	p.A33A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	33						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		CCCCCCCGTCCGCGCATCGCG	0.672000													4	53					0	0	0.014758	0	0
ZNF423	23090	broad.mit.edu	37	16	49672378	49672378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:49672378G>A	ENST00000561648.1	-	4	738	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ZNF423_ENST00000563137.2_Missense_Mutation_p.R169C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R112C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R169C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R112C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R169C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R229C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	229					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGAAGCCGCGCTTGCACACA	0.597000													6	46					0	0	0.021553	0	0
CHST15	51363	broad.mit.edu	37	10	125804104	125804104	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:125804104T>C	ENST00000346248.5	-	3	1520	c.878A>G	c.(877-879)aAg>aGg	p.K293R	CHST15_ENST00000421115.1_Missense_Mutation_p.K293R|CHST15_ENST00000435907.1_Missense_Mutation_p.K293R	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	293					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						ACCAAAGCGCTTCCGGGTCCA	0.637000													7	12					0	0	0.029380	0	0
PIPSL	266971	broad.mit.edu	37	10	95718642	95718642	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:95718642G>A	ENST00000480546.1	-	0	2655					NR_002319.2																						ACAGCATTTCGAATGGCTTCA	0.537000													9	36					0	0	0.047766	0	0
SLC34A1	6569	broad.mit.edu	37	5	176824887	176824887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:176824887G>A	ENST00000324417.5	+	13	1611	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	507					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGGAAACGCACGGCCAAG	0.607000													16	63					0	0	0.033300	0	0
ZC3H3	23144	broad.mit.edu	37	8	144589967	144589967	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:144589967G>C	ENST00000262577.5	-	4	1695	c.1664C>G	c.(1663-1665)cCc>cGc	p.P555R		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	555					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CAGGGGGAAGGGCGGGGCGCT	0.667000													32	45					0	0	0.045705	0	0
NID1	4811	broad.mit.edu	37	1	236180536	236180536	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:236180536C>T	ENST00000264187.6	-	10	2248	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	722	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TTGTGTGGCTCCCACACACTG	0.433000													18	93					0	0	0.043863	0	0
EVI5	7813	broad.mit.edu	37	1	93167729	93167729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:93167729C>T	ENST00000370331.1	-	5	749	c.740G>A	c.(739-741)aGt>aAt	p.S247N	EVI5_ENST00000540033.1_Missense_Mutation_p.S247N|EVI5_ENST00000543509.1_Missense_Mutation_p.S247N	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	247	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TATAAAAGCACTTCCTTGACA	0.308000													8	34					0	0	0.058154	0	0
SCN2A	6326	broad.mit.edu	37	2	166152455	166152455	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:166152455G>A	ENST00000375437.2	+	2	412	c.122G>A	c.(121-123)cGc>cAc	p.R41H	SCN2A_ENST00000283256.6_Missense_Mutation_p.R41H|SCN2A_ENST00000375427.2_Missense_Mutation_p.R41H|SCN2A_ENST00000357398.3_Missense_Mutation_p.R41H	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	41					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAACAGGAACGCAAGGATGAG	0.473000													9	19					0	0	0.069234	0	0
UBL7	84993	broad.mit.edu	37	15	74740855	74740855	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:74740855C>T	ENST00000567435.1	-	10	1432	c.969G>A	c.(967-969)caG>caA	p.Q323Q	UBL7_ENST00000395081.2_Silent_p.Q323Q|UBL7_ENST00000361351.4_Silent_p.Q323Q|UBL7_ENST00000564488.1_Silent_p.Q323Q|UBL7_ENST00000565335.1_Silent_p.Q323Q			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	323							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GAAGGGCATGCTGTAGGGCTT	0.542000													23	106					0	0	0.062417	0	0
DGKK	139189	broad.mit.edu	37	X	50119144	50119144	+	RNA	SNP	A	A	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:50119144A>T	ENST00000376025.2	-	0	3351							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGCTGGTGGATCTTGCTCAG	0.478000													6	4					0	0	0.029380	0	0
PHLDA2	7262	broad.mit.edu	37	11	2950579	2950579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:2950579C>T	ENST00000314222.4	-	1	106	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	6					apoptosis	cytoplasm|membrane				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGTAGCACCTCGTCGGGGGAT	0.677000													10	8					0	0	0.069234	0	0
PKD1	5310	broad.mit.edu	37	16	2158547	2158547	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:2158547G>A	ENST00000262304.4	-	15	6829	c.6621C>T	c.(6619-6621)ccC>ccT	p.P2207P	PKD1_ENST00000423118.1_Silent_p.P2207P	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2207	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCCACGCCGGGCAGGGCCA	0.697000													4	11					0	0	0.009096	0	0
RBBP7	5931	broad.mit.edu	37	X	16887237	16887237	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:16887237C>G	ENST00000380087.2	-	2	483	c.123G>C	c.(121-123)tgG>tgC	p.W41C	RBBP7_ENST00000380084.4_Missense_Mutation_p.W85C|RBBP7_ENST00000404022.1_Missense_Mutation_p.W41C			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	41					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TAAGACTGGGCCACTGAAGAG	0.393000													10	27					0	0	0.069234	0	0
LILRA1	11024	broad.mit.edu	37	19	55106360	55106360	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:55106360G>A	ENST00000453777.1	+	4	471	c.301G>A	c.(301-303)Ggt>Agt	p.G101S	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.G101S|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	101	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGTTTCTACGGTAGCCACAC	0.607000													11	52					0	0	0.069234	0	0
CECR5	27440	broad.mit.edu	37	22	17619607	17619607	+	Silent	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:17619607C>A	ENST00000336737.4	-	7	793	c.768G>T	c.(766-768)ctG>ctT	p.L256L	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Silent_p.L226L	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	256							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCAGGCACAGCAGAAAGGTGC	0.537000													13	121					9.31168e-06	1.0269e-05	0.105934	1	0
ABCA4	24	broad.mit.edu	37	1	94496611	94496611	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:94496611G>A	ENST00000370225.3	-	28	4280	c.4194C>T	c.(4192-4194)ggC>ggT	p.G1398G		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1398					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGGGGTATTCGCCAAAAGGAG	0.512000													6	23					0	0	0.021553	0	0
ATP8A1	10396	broad.mit.edu	37	4	42551058	42551058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr4:42551058C>T	ENST00000381668.5	-	19	1855	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E527K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	542					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTGAGCAATTCATATCTTTCT	0.308000													9	40					0	0	0.047766	0	0
CORO2B	10391	broad.mit.edu	37	15	69003203	69003203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:69003203G>A	ENST00000543950.1	+	4	805	c.451G>A	c.(451-453)Gct>Act	p.A151T	CORO2B_ENST00000540068.1_Missense_Mutation_p.A151T|CORO2B_ENST00000566799.1_Missense_Mutation_p.A156T|CORO2B_ENST00000261861.5_Missense_Mutation_p.A151T	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	156					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGTTCAGCGCTGGCTACGA	0.622000													3	5					0	0	0.004672	0	0
LINC00207	388910	broad.mit.edu	37	22	44967270	44967270	+	RNA	SNP	C	C	T	rs144250545	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:44967270C>T	ENST00000605505.1	+	0	261					NR_028409.1															lung(3)	3						acccactttacggatgaggaa	0.567000													3	12					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179606565	179606565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:179606565C>T	ENST00000589042.1	-	48	11619	c.11395G>A	c.(11395-11397)Gaa>Aaa	p.E3799K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E3482K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3561K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3436K|TTN_ENST00000342175.6_Missense_Mutation_p.E3628K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3482			S -> Y (in CMD1G).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3436K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACAAAAGTTCAAGTGTTTCA	0.373000													4	12					0	0	0.009096	0	0
CNN1	1264	broad.mit.edu	37	19	11651894	11651894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:11651894G>A	ENST00000252456.2	+	2	278	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.A3T|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000535659.2_5'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	23					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCCCAGCTGGCCCAGAAGTA	0.632000													3	14					0	0	0.004672	0	0
MS4A14	84689	broad.mit.edu	37	11	60170536	60170536	+	Splice_Site	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:60170536T>C	ENST00000300187.6	+	4	745		c.e4+2		MS4A14_ENST00000531783.1_Splice_Site|MS4A14_ENST00000531787.1_Splice_Site|MS4A14_ENST00000395005.2_Splice_Site|MS4A14_ENST00000395001.1_Splice_Site	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14							integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTTTTCATTGTAAGTGGTCTT	0.343000													21	57					0	0	0.049695	0	0
VPS36	51028	broad.mit.edu	37	13	53007799	53007799	+	Missense_Mutation	SNP	C	C	T	rs35567300		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr13:53007799C>T	ENST00000378060.4	-	6	553	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	176					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		ACAGTTACCTCAGAAATGTTT	0.343000													3	41					0	0	0.009096	0	0
PADI6	353238	broad.mit.edu	37	1	17727771	17727771	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:17727771G>A	ENST00000434762.2	+	0	1973							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGGGGACCTGCTGCCTGGAA	0.537000													4	38					0	0	0.014758	0	0
IMMP2L	83943	broad.mit.edu	37	7	110303748	110303748	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:110303748G>A	ENST00000405709.2	-	6	880	c.438C>T	c.(436-438)gcC>gcT	p.A146A	IMMP2L_ENST00000450877.1_Silent_p.A128A|IMMP2L_ENST00000415362.1_Silent_p.A146A|IMMP2L_ENST00000331762.3_Silent_p.A146A|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000452895.1_Silent_p.A146A	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	146					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GGATATGTGTGGCATGGGCAT	0.418000													6	48					0	0	0.029380	0	0
ERAP1	51752	broad.mit.edu	37	5	96121595	96121595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:96121595C>T	ENST00000296754.3	-	13	2097	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|ERAP1_ENST00000443439.2_Missense_Mutation_p.D614N	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	614					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CATCCATCATCCTCGTAATGC	0.413000													4	49					0	0	0.009096	0	0
TUB	7275	broad.mit.edu	37	11	8123160	8123160	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:8123160C>T	ENST00000305253.4	+	13	1921	c.1680C>T	c.(1678-1680)tgC>tgT	p.C560C	TUB_ENST00000299506.2_Silent_p.C505C|TUB_ENST00000534099.1_Silent_p.C511C	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	505					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCTGGCGTGCGAGTAGAGGC	0.597000													15	8					0	0	0.020292	0	0
CLASRP	11129	broad.mit.edu	37	19	45555410	45555410	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:45555410G>C	ENST00000544944.2	+	2	873	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CLASRP_ENST00000221455.3_Missense_Mutation_p.E61Q|CLASRP_ENST00000391953.4_Intron			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	61					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCTGGCCGCTGAGAGCCCTGT	0.562000													4	49					0	0	0.009096	0	0
TRA2B	6434	broad.mit.edu	37	3	185644425	185644425	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:185644425C>T	ENST00000453386.2	-	2	409	c.134G>A	c.(133-135)cGt>cAt	p.R45H	TRA2B_ENST00000382191.4_Intron	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	45	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TGATCTGGAACGCCTGGAATC	0.488000													28	61					0	0	0.034045	0	0
SLC17A5	26503	broad.mit.edu	37	6	74331548	74331548	+	Silent	SNP	G	G	A	rs147732875		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:74331548G>A	ENST00000355773.5	-	7	1225	c.957C>T	c.(955-957)atC>atT	p.I319I	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	319					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGAACCTTAGGATCTCCTTCA	0.313000													9	21					0	0	0.047766	0	0
CSF1	1435	broad.mit.edu	37	1	110456910	110456910	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:110456910C>T	ENST00000329608.6	+	2	460	c.69C>T	c.(67-69)gtC>gtT	p.V23V	CSF1_ENST00000369801.1_Silent_p.V23V|CSF1_ENST00000369802.3_Silent_p.V23V|CSF1_ENST00000344188.5_Silent_p.V23V|CSF1_ENST00000420111.2_Silent_p.V23V	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	23					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGTTGTTGGTCTGTCTCCTGG	0.587000													16	29					0	0	0.024245	0	0
CCDC170	80129	broad.mit.edu	37	6	151857487	151857487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:151857487C>T	ENST00000367290.5	+	2	181	c.92C>T	c.(91-93)aCg>aTg	p.T31M	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.T31M			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	31								p.T31M(1)									GTCCCGGTCACGCGGGAGCAG	0.433000													5	57					0	0	0.021553	0	0
ISLR2	57611	broad.mit.edu	37	15	74426761	74426761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:74426761C>T	ENST00000361742.3	+	4	2435	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	ISLR2_ENST00000565159.1_Missense_Mutation_p.R556C|ISLR2_ENST00000565540.1_Missense_Mutation_p.R556C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.R556C|ISLR2_ENST00000445793.1_Missense_Mutation_p.R556C|ISLR2_ENST00000435464.1_Missense_Mutation_p.R556C|ISLR2_ENST00000419208.1_Missense_Mutation_p.R556C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	556					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTACTGGTTCCGCGGCCTGCG	0.682000													4	9					0	0	0.009096	0	0
UPF2	26019	broad.mit.edu	37	10	11973704	11973704	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:11973704C>G	ENST00000356352.2	-	19	4097	c.3624G>C	c.(3622-3624)gaG>gaC	p.E1208D	UPF2_ENST00000357604.5_Missense_Mutation_p.E1208D|UPF2_ENST00000397053.2_Missense_Mutation_p.E1208D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1208	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTCTCATCCTCTCTTCTTGTT	0.373000													10	58					0	0	0.080935	0	0
BRINP3	339479	broad.mit.edu	37	1	190203579	190203579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:190203579C>T	ENST00000367462.3	-	5	878	c.647G>A	c.(646-648)gGc>gAc	p.G216D	FAM5C_ENST00000534846.1_Missense_Mutation_p.G114D|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		216						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTTACTGCAGCCAAGAGGACC	0.378000													9	51					0	0	0.069234	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900135	112900135	+	Missense_Mutation	SNP	G	G	A	rs142423891		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:112900135G>A	ENST00000374530.3	+	8	2491	c.2311G>A	c.(2311-2313)Gtc>Atc	p.V771I	AKAP2_ENST00000259318.7_Missense_Mutation_p.V540I|AKAP2_ENST00000374525.1_Missense_Mutation_p.V629I|AKAP2_ENST00000555236.1_Missense_Mutation_p.V771I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V771I|AKAP2_ENST00000434623.2_Missense_Mutation_p.V629I|AKAP2_ENST00000510514.5_Missense_Mutation_p.V771I	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		540							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGGAGAAGGCGTCTCCAAGTC	0.532000													5	46					0	0	0.014758	0	0
RBBP7	5931	broad.mit.edu	37	X	16887232	16887232	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:16887232C>A	ENST00000380087.2	-	2	488	c.128G>T	c.(127-129)aGt>aTt	p.S43I	RBBP7_ENST00000380084.4_Missense_Mutation_p.S87I|RBBP7_ENST00000404022.1_Missense_Mutation_p.S43I			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	43					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AACGGTAAGACTGGGCCACTG	0.403000													8	28					1.12685e-05	1.23119e-05	0.047766	1	0
DPPA4	55211	broad.mit.edu	37	3	109049479	109049479	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:109049479T>G	ENST00000335658.6	-	5	625	c.571A>C	c.(571-573)Aca>Cca	p.T191P	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	191						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ACCACAACTGTATTAACTCCC	0.562000													43	35					0	0	0.039052	0	0
GLO1	2739	broad.mit.edu	37	6	38670758	38670758	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:38670758G>A	ENST00000373365.4	-	1	159	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	25					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TTGGTACTGGGGTCCGCGTCG	0.711000													3	23					0	0	0.009096	0	0
TRIM36	55521	broad.mit.edu	37	5	114499269	114499269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:114499269G>C	ENST00000513154.1	-	2	534	c.208C>G	c.(208-210)Cga>Gga	p.R70G	TRIM36_ENST00000282369.3_Missense_Mutation_p.R82G|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000515104.1_5'UTR			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	82						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGCCGAAGTCGAGGACTGCTT	0.453000													5	49					0	0	0.021553	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646578	80646578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:80646578G>A	ENST00000466387.1	+	13	1866	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	CTNNA2_ENST00000343114.3_Missense_Mutation_p.R60Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R415Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R381Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	381					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						CTGTAGCTTCGGAAAGCAGTG	0.358000													8	51					0	0	0.038147	0	0
ZNF516	9658	broad.mit.edu	37	18	74154962	74154962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr18:74154962G>A	ENST00000443185.2	-	3	366	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCCTGGTGGGGCTGGGGCCT	0.692000													7	4					0	0	0.047766	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752804	41752804	+	Silent	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:41752804C>G	ENST00000352645.4	+	22	2930	c.2673C>G	c.(2671-2673)ctC>ctG	p.L891L	ZC3H7B_ENST00000351589.4_Silent_p.L891L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	907					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTTCCGGCTCTGCGACAGGT	0.667000													7	39					0	0	0.029380	0	0
CHRM3	1131	broad.mit.edu	37	1	240071198	240071198	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:240071198C>A	ENST00000255380.4	+	5	1226	c.447C>A	c.(445-447)taC>taA	p.Y149*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	149					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCATTGACTACGTAGCCAGCA	0.473000													27	34					9.86323e-18	1.1191e-17	0.091800	1	0
C9orf170	401535	broad.mit.edu	37	9	89771559	89771559	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:89771559T>C	ENST00000375941.2	+	2	327	c.240T>C	c.(238-240)tcT>tcC	p.S80S		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	80										large_intestine(3)|lung(2)|prostate(1)	6						ggagaaagtctgatttaggag	0.393000													4	20					0	0	0.009096	0	0
MAST1	22983	broad.mit.edu	37	19	12951871	12951871	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:12951871C>T	ENST00000251472.4	+	3	278	c.239C>T	c.(238-240)tCc>tTc	p.S80F	MAST1_ENST00000591495.1_Missense_Mutation_p.S76F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	80					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCGTTTGCCTCCTCCCGAAGG	0.627000													4	38					0	0	0.014758	0	0
ELN	2006	broad.mit.edu	37	7	73474271	73474271	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474271T>C	ENST00000252034.7	+	23	1869	c.1470T>C	c.(1468-1470)ggT>ggC	p.G490G	ELN_ENST00000380562.4_Silent_p.G496G|ELN_ENST00000380575.4_Silent_p.G461G|ELN_ENST00000458204.1_Silent_p.G480G|ELN_ENST00000445912.1_Silent_p.G490G|ELN_ENST00000380576.5_Silent_p.G471G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G476G|ELN_ENST00000414324.1_Silent_p.G466G|ELN_ENST00000380553.4_Silent_p.G354G|ELN_ENST00000380584.4_Silent_p.G457G|ELN_ENST00000358929.4_Silent_p.G525G|ELN_ENST00000357036.5_Silent_p.G495G|ELN_ENST00000320399.6_Silent_p.G490G|ELN_ENST00000320492.7_Silent_p.G409G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	519	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGGTGTCGGTGTGGCTCCTG	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						15	173					0	0	0.045515	0	0
TGM5	9333	broad.mit.edu	37	15	43545012	43545012	+	Silent	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:43545012G>C	ENST00000220420.5	-	6	814	c.807C>G	c.(805-807)ggC>ggG	p.G269G	TGM5_ENST00000349114.4_Silent_p.G187G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	269					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CGGGCTGGCAGCCTGTGGCGT	0.592000													11	51					0	0	0.093190	0	0
ISM1	140862	broad.mit.edu	37	20	13279972	13279972	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:13279972C>T	ENST00000262487.3	+	6	1267	c.1261C>T	c.(1261-1263)Ctg>Ttg	p.L421L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	421	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GGTGGACGTCCTGCCCTGGAT	0.622000													5	21					0	0	0.014758	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	63					0	0	0.021553	0	0
MAP1B	4131	broad.mit.edu	37	5	71491407	71491407	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:71491407C>T	ENST00000296755.7	+	5	2523	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	742	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAAAGAAATCATCTACTCCT	0.393000													8	77					0	0	0.047766	0	0
CSNK2B	1460	broad.mit.edu	37	6	31635648	31635648	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:31635648G>C	ENST00000375880.2	+	3	194	c.76G>C	c.(76-78)Gat>Cat	p.D26H	CSNK2B_ENST00000375885.4_Missense_Mutation_p.D45H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.D26H																							CTGACAGGTGGATGAAGACTA	0.458000													13	20					0	0	0.093190	0	0
PUS7L	83448	broad.mit.edu	37	12	44130374	44130374	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:44130374T>A	ENST00000416848.2	-	7	2023	c.1535A>T	c.(1534-1536)gAg>gTg	p.E512V	PUS7L_ENST00000344862.5_Missense_Mutation_p.E512V|PUS7L_ENST00000431332.3_Missense_Mutation_p.E199V|PUS7L_ENST00000551923.1_Missense_Mutation_p.E512V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	512	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACAACCTTCCTCGGTCATGCC	0.448000													12	50					0	0	0.080935	0	0
PISD	23761	broad.mit.edu	37	22	32017676	32017676	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:32017676G>A	ENST00000382151.2	-	4	834	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	PISD_ENST00000439502.2_Silent_p.L173L|PISD_ENST00000336566.4_Silent_p.L173L|PISD_ENST00000266095.5_Silent_p.L139L|PISD_ENST00000397500.1_Silent_p.L139L|PISD_ENST00000478893.1_5'UTR			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	173					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGCGGCTTCAGCTTGCGCCGG	0.602000													5	29					0	0	0.021553	0	0
HAUS8	93323	broad.mit.edu	37	19	17163638	17163638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:17163638C>T	ENST00000593360.1	-	9	2761	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	HAUS8_ENST00000253669.5_Missense_Mutation_p.R309Q|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Missense_Mutation_p.R308Q			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	309					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GAGGTACCTTCGGAGCTCAAG	0.527000											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	80					0	0	0.028581	0	0
FBXO43	286151	broad.mit.edu	37	8	101149817	101149817	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:101149817G>A	ENST00000428847.2	-	3	1966	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	550					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCAGTTGTGTGATATAAAATT	0.303000													17	20					0	0	0.033300	0	0
ZFAT	57623	broad.mit.edu	37	8	135620985	135620985	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:135620985T>C	ENST00000520727.1	-	6	1035	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	ZFAT_ENST00000429442.2_Missense_Mutation_p.M246V|ZFAT_ENST00000523399.1_Missense_Mutation_p.M196V|ZFAT_ENST00000520214.1_Missense_Mutation_p.M246V|ZFAT_ENST00000377838.3_Missense_Mutation_p.M258V|ZFAT_ENST00000520356.1_Missense_Mutation_p.M246V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTGACTTCATTGGTTGCTCA	0.483000													52	42					0	0	0.048971	0	0
EIF4B	1975	broad.mit.edu	37	12	53410391	53410391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:53410391G>C	ENST00000262056.9	+	2	474	c.148G>C	c.(148-150)Gat>Cat	p.D50H	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.D50H|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.D50H|EIF4B_ENST00000551527.1_3'UTR	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	50					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCTGGAAGGAGATGGTAACTT	0.403000													11	52					0	0	0.105934	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67172899	67172899	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:67172899G>A	ENST00000312390.5	+	4	311	c.282G>A	c.(280-282)ccG>ccA	p.P94P	TBC1D10C_ENST00000526387.1_Silent_p.P94P|TBC1D10C_ENST00000542590.1_Silent_p.P94P	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	94	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AAGGCATCCCGTCTGCCCTGC	0.657000													13	38					0	0	0.020292	0	0
PUS7L	83448	broad.mit.edu	37	12	44148848	44148848	+	Silent	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:44148848A>G	ENST00000416848.2	-	2	689	c.201T>C	c.(199-201)ttT>ttC	p.F67F	PUS7L_ENST00000344862.5_Silent_p.F67F|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Silent_p.F67F|PUS7L_ENST00000551923.1_Silent_p.F67F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	67					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTTTGGGAAAATTATTTG	0.323000													4	52					0	0	0.014758	0	0
EMR3	84658	broad.mit.edu	37	19	14752358	14752358	+	Missense_Mutation	SNP	G	G	T	rs146538980	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:14752358G>T	ENST00000253673.5	-	10	1221	c.1121C>A	c.(1120-1122)gCg>gAg	p.A374E	EMR3_ENST00000599900.1_Missense_Mutation_p.A159E|EMR3_ENST00000443157.2_Missense_Mutation_p.A248E|EMR3_ENST00000344373.4_Missense_Mutation_p.A322E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	374					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGTGAGGGCCGCCAGGAGGAG	0.582000													8	37					2.17888e-05	2.35878e-05	0.058154	1	0
ADCK3	56997	broad.mit.edu	37	1	227169739	227169739	+	Missense_Mutation	SNP	G	G	A	rs148376283		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:227169739G>A	ENST00000366779.1	+	11	3513	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	ADCK3_ENST00000458507.2_5'UTR|ADCK3_ENST00000366775.1_Missense_Mutation_p.V93M|ADCK3_ENST00000366777.3_Missense_Mutation_p.V248M|ADCK3_ENST00000433743.2_5'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.V196M|ADCK3_ENST00000366776.1_Missense_Mutation_p.V173M|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	248					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GAAGAAGGCCGTGCTGGGTTC	0.652000													29	36					0	0	0.037714	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819580	159819580	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:159819580G>A	ENST00000497452.1	-	0	517																											CATCTTGACCGCATTGTGAAG	0.433000													37	154					0	0	0.086207	0	0
PCK1	5105	broad.mit.edu	37	20	56137828	56137828	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:56137828G>A	ENST00000319441.4	+	4	647	c.483G>A	c.(481-483)acG>acA	p.T161T	PCK1_ENST00000535860.1_Silent_p.T29T|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	161					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCGAGCTGACGGATTCACCCT	0.612000													4	46					0	0	0.009096	0	0
TTC27	55622	broad.mit.edu	37	2	33012122	33012122	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:33012122A>G	ENST00000317907.4	+	16	2135	c.1904A>G	c.(1903-1905)tAc>tGc	p.Y635C		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	635							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TGGGAAAACTACATCCTCACC	0.393000													11	50					0	0	0.069234	0	0
MTA2	9219	broad.mit.edu	37	11	62361790	62361790	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:62361790C>G	ENST00000278823.2	-	17	2171	c.1782G>C	c.(1780-1782)caG>caC	p.Q594H	MTA2_ENST00000524902.1_Missense_Mutation_p.Q421H|MTA2_ENST00000527204.1_Missense_Mutation_p.Q421H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	594					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTTTAGTTTCTGACGCTTGG	0.567000													8	49					0	0	0.047766	0	0
UBR5	51366	broad.mit.edu	37	8	103309160	103309160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:103309160G>A	ENST00000520539.1	-	28	4232	c.3626C>T	c.(3625-3627)aCg>aTg	p.T1209M	UBR5_ENST00000220959.4_Missense_Mutation_p.T1209M|UBR5_ENST00000521922.1_Missense_Mutation_p.T1203M	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1209					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCACATTCCGTACAACAACA	0.318000													4	33					0	0	0.014758	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													5	32					0	0	0.014758	0	0
PSD4	23550	broad.mit.edu	37	2	113942946	113942946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:113942946C>T	ENST00000245796.6	+	4	1373	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	PSD4_ENST00000441564.2_Missense_Mutation_p.S393F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	393					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACAGGCCTCTCTCAGCCCT	0.587000													21	90					0	0	0.083992	0	0
HELZ2	85441	broad.mit.edu	37	20	62192986	62192986	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:62192986G>A	ENST00000467148.1	-	12	6873	c.6804C>T	c.(6802-6804)agC>agT	p.S2268S	HELZ2_ENST00000427522.2_Silent_p.S1699S	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCTCCCGGGGGCTCTTCCTGA	0.657000													42	62					0	0	0.086207	0	0
MVP	9961	broad.mit.edu	37	16	29851704	29851704	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:29851704A>G	ENST00000357402.5	+	8	1253	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.E372G	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	372					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCAAAGTGGAGGTGGTGGAG	0.612000													2	8					0	0	0.004672	0	0
FAM63B	54629	broad.mit.edu	37	15	59064131	59064131	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:59064131C>T	ENST00000559228.1	+	1	619	c.537C>T	c.(535-537)ttC>ttT	p.F179F	FAM63B_ENST00000450403.2_Silent_p.F179F			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	179										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGAGTCGTTCTCTAACCTGC	0.647000													11	19					0	0	0.080935	0	0
ANXA9	8416	broad.mit.edu	37	1	150967079	150967079	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:150967079G>A	ENST00000368947.4	+	13	1355	c.879G>A	c.(877-879)ctG>ctA	p.L293L		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	293					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCAAGTCCTGATTCGCATCC	0.483000													12	149					0	0	0.105934	0	0
TTN	7273	broad.mit.edu	37	2	179451387	179451387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:179451387C>T	ENST00000589042.1	-	308	64465	c.64241G>A	c.(64240-64242)cGc>cAc	p.R21414H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18846H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19773H|TTN_ENST00000359218.5_Missense_Mutation_p.R12474H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12349H|TTN_ENST00000342175.6_Missense_Mutation_p.R12541H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19773	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTGTCCAGCGATCTGCAGG	0.468000													26	73					0	0	0.091800	0	0
HPX	3263	broad.mit.edu	37	11	6452604	6452604	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:6452604A>G	ENST00000265983.3	-	10	1326	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	409					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGACTTTTCCATACACAAGGC	0.562000													15	34					0	0	0.028581	0	0
ELN	2006	broad.mit.edu	37	7	73474265	73474265	+	Silent	SNP	T	T	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474265T>A	ENST00000252034.7	+	23	1863	c.1464T>A	c.(1462-1464)ggT>ggA	p.G488G	ELN_ENST00000380562.4_Silent_p.G494G|ELN_ENST00000380575.4_Silent_p.G459G|ELN_ENST00000458204.1_Silent_p.G478G|ELN_ENST00000445912.1_Silent_p.G488G|ELN_ENST00000380576.5_Silent_p.G469G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G474G|ELN_ENST00000414324.1_Silent_p.G464G|ELN_ENST00000380553.4_Silent_p.G352G|ELN_ENST00000380584.4_Silent_p.G455G|ELN_ENST00000358929.4_Silent_p.G523G|ELN_ENST00000357036.5_Silent_p.G493G|ELN_ENST00000320399.6_Silent_p.G488G|ELN_ENST00000320492.7_Silent_p.G407G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	517	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGCTCCTGGTGTCGGTGTGG	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						9	174					0	0	0.108266	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215474	140215474	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:140215474C>T	ENST00000525929.1	+	1	1506	c.1506C>T	c.(1504-1506)cgC>cgT	p.R502R	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.R502R|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGAGCGCGCGCTGTCGA	0.677000													13	79					0	0	0.024245	0	0
CR1	1378	broad.mit.edu	37	1	207793408	207793408	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:207793408C>G	ENST00000367049.4	+	43	7250	c.7250C>G	c.(7249-7251)tCt>tGt	p.S2417C	CR1_ENST00000367051.1_Missense_Mutation_p.S1967C|CR1_ENST00000367053.1_Missense_Mutation_p.S1967C|CR1_ENST00000400960.2_Missense_Mutation_p.S1967C|CR1_ENST00000367052.1_Missense_Mutation_p.S1967C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1967					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAATGTACCTCTCGTAAGTGC	0.493000											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	0.009096	0	0
DNAH8	1769	broad.mit.edu	37	6	38704881	38704881	+	Silent	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:38704881C>G	ENST00000359357.3	+	4	404	c.150C>G	c.(148-150)ctC>ctG	p.L50L	DNAH8_ENST00000441566.1_Silent_p.L50L|DNAH8_ENST00000449981.2_Silent_p.L267L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGAAAGGACTCTTAAATGGAA	0.398000													5	83					0	0	0.029380	0	0
ACO1	48	broad.mit.edu	37	9	32423392	32423392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:32423392C>T	ENST00000379923.1	+	10	1252	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L	ACO1_ENST00000541043.1_Missense_Mutation_p.P250L|ACO1_ENST00000309951.5_Missense_Mutation_p.P349L	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	349					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTCAATGACCCTTCTCAAGAC	0.398000													6	43					0	0	0.029380	0	0
GPR4	2828	broad.mit.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617000													18	46					0	0	0.038395	0	0
TPCN2	219931	broad.mit.edu	37	11	68822187	68822187	+	Splice_Site	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:68822187A>G	ENST00000294309.3	+	3	275		c.e3-1		TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTCGCTTGTAGTACCGCTCC	0.577000													6	25					0	0	0.038147	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823814	38823814	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:38823814C>T	ENST00000303592.3	-	2	582	c.324G>A	c.(322-324)ccG>ccA	p.P108P		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	108	Val/Gly/Ala/Pro stretch.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGGGGGCCACCGGGGCTGCTC	0.692000													15	23					0	0	0.020292	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900135	112900135	+	Missense_Mutation	SNP	G	G	A	rs142423891		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:112900135G>A	ENST00000374530.3	+	8	2491	c.2311G>A	c.(2311-2313)Gtc>Atc	p.V771I	AKAP2_ENST00000434623.2_Missense_Mutation_p.V629I|AKAP2_ENST00000374525.1_Missense_Mutation_p.V629I|AKAP2_ENST00000259318.7_Missense_Mutation_p.V540I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V771I|AKAP2_ENST00000555236.1_Missense_Mutation_p.V771I|AKAP2_ENST00000510514.5_Missense_Mutation_p.V771I	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		540							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGGAGAAGGCGTCTCCAAGTC	0.532000													5	46					0	0	0.014758	0	0
RBBP7	5931	broad.mit.edu	37	X	16887232	16887232	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chrX:16887232C>A	ENST00000380087.2	-	2	488	c.128G>T	c.(127-129)aGt>aTt	p.S43I	RBBP7_ENST00000380084.4_Missense_Mutation_p.S87I|RBBP7_ENST00000404022.1_Missense_Mutation_p.S43I			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	43					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AACGGTAAGACTGGGCCACTG	0.403000													8	28					1.12685e-05	1.26207e-05	0.047766	1	0
FBXO43	286151	broad.mit.edu	37	8	101149817	101149817	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr8:101149817G>A	ENST00000428847.2	-	3	1966	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	550					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCAGTTGTGTGATATAAAATT	0.303000													17	20					0	0	0.033300	0	0
PKD1	5310	broad.mit.edu	37	16	2158547	2158547	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr16:2158547G>A	ENST00000262304.4	-	15	6829	c.6621C>T	c.(6619-6621)ccC>ccT	p.P2207P	PKD1_ENST00000423118.1_Silent_p.P2207P	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2207	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCCACGCCGGGCAGGGCCA	0.697000													4	11					0	0	0.009096	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													3	14					0	0	0.004672	0	0
EIF4B	1975	broad.mit.edu	37	12	53410391	53410391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr12:53410391G>C	ENST00000262056.9	+	2	474	c.148G>C	c.(148-150)Gat>Cat	p.D50H	RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.D50H|EIF4B_ENST00000416762.3_Missense_Mutation_p.D50H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	50					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCTGGAAGGAGATGGTAACTT	0.403000													11	52					0	0	0.105934	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67172899	67172899	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:67172899G>A	ENST00000312390.5	+	4	311	c.282G>A	c.(280-282)ccG>ccA	p.P94P	TBC1D10C_ENST00000526387.1_Silent_p.P94P|TBC1D10C_ENST00000542590.1_Silent_p.P94P	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	94	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AAGGCATCCCGTCTGCCCTGC	0.657000													13	38					0	0	0.020292	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752804	41752804	+	Silent	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:41752804C>G	ENST00000352645.4	+	22	2930	c.2673C>G	c.(2671-2673)ctC>ctG	p.L891L	ZC3H7B_ENST00000351589.4_Silent_p.L891L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	907					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTTCCGGCTCTGCGACAGGT	0.667000													7	39					0	0	0.029380	0	0
PUS7L	83448	broad.mit.edu	37	12	44148848	44148848	+	Silent	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr12:44148848A>G	ENST00000416848.2	-	2	689	c.201T>C	c.(199-201)ttT>ttC	p.F67F	PUS7L_ENST00000553166.1_Silent_p.F67F|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Silent_p.F67F|PUS7L_ENST00000551923.1_Silent_p.F67F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	67					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTTTGGGAAAATTATTTG	0.323000													4	52					0	0	0.014758	0	0
EMR3	84658	broad.mit.edu	37	19	14752358	14752358	+	Missense_Mutation	SNP	G	G	T	rs146538980	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:14752358G>T	ENST00000253673.5	-	10	1221	c.1121C>A	c.(1120-1122)gCg>gAg	p.A374E	EMR3_ENST00000443157.2_Missense_Mutation_p.A248E|EMR3_ENST00000344373.4_Missense_Mutation_p.A322E|EMR3_ENST00000599900.1_Missense_Mutation_p.A159E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	374					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGTGAGGGCCGCCAGGAGGAG	0.582000													8	37					2.17888e-05	2.40823e-05	0.058154	1	0
CECR5	27440	broad.mit.edu	37	22	17619607	17619607	+	Silent	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:17619607C>A	ENST00000336737.4	-	7	793	c.768G>T	c.(766-768)ctG>ctT	p.L256L	CECR5_ENST00000155674.5_Silent_p.L226L|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	256							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCAGGCACAGCAGAAAGGTGC	0.537000													13	121					9.31168e-06	1.057e-05	0.105934	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819580	159819580	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr3:159819580G>A	ENST00000497452.1	-	0	517																											CATCTTGACCGCATTGTGAAG	0.433000													37	154					0	0	0.086207	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878082	39878082	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:39878082T>C	ENST00000530275.1	+	1	1932	c.1737T>C	c.(1735-1737)tgT>tgC	p.C579C	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	579										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGTTTGTGATGAGGATG	0.423000													6	38					0	0	0.021553	0	0
TRIM36	55521	broad.mit.edu	37	5	114499269	114499269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:114499269G>C	ENST00000513154.1	-	2	534	c.208C>G	c.(208-210)Cga>Gga	p.R70G	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Missense_Mutation_p.R82G			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	82						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGCCGAAGTCGAGGACTGCTT	0.453000													5	49					0	0	0.021553	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646578	80646578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:80646578G>A	ENST00000466387.1	+	13	1866	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	CTNNA2_ENST00000402739.4_Missense_Mutation_p.R381Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R60Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R415Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	381					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						CTGTAGCTTCGGAAAGCAGTG	0.358000													8	51					0	0	0.038147	0	0
PHLDA2	7262	broad.mit.edu	37	11	2950579	2950579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:2950579C>T	ENST00000314222.4	-	1	106	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	6					apoptosis	cytoplasm|membrane				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGTAGCACCTCGTCGGGGGAT	0.677000													10	8					0	0	0.069234	0	0
ATP8A1	10396	broad.mit.edu	37	4	42551058	42551058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr4:42551058C>T	ENST00000381668.5	-	19	1855	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E527K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	542					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTGAGCAATTCATATCTTTCT	0.308000													9	40					0	0	0.047766	0	0
TTC7A	57217	broad.mit.edu	37	2	47238537	47238537	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:47238537T>C	ENST00000319190.5	+	11	1723	c.1355T>C	c.(1354-1356)cTg>cCg	p.L452P	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Missense_Mutation_p.L98P|TTC7A_ENST00000394850.2_Missense_Mutation_p.L452P|TTC7A_ENST00000409245.1_Missense_Mutation_p.L418P	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	452							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACCGTGCCCCTGATGGCCGCG	0.637000													3	14					0	0	0.004672	0	0
MTA2	9219	broad.mit.edu	37	11	62361790	62361790	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:62361790C>G	ENST00000278823.2	-	17	2171	c.1782G>C	c.(1780-1782)caG>caC	p.Q594H	MTA2_ENST00000527204.1_Missense_Mutation_p.Q421H|MTA2_ENST00000524902.1_Missense_Mutation_p.Q421H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	594					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTTTAGTTTCTGACGCTTGG	0.567000													8	49					0	0	0.047766	0	0
PUS7L	83448	broad.mit.edu	37	12	44130374	44130374	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr12:44130374T>A	ENST00000416848.2	-	7	2023	c.1535A>T	c.(1534-1536)gAg>gTg	p.E512V	PUS7L_ENST00000431332.3_Missense_Mutation_p.E199V|PUS7L_ENST00000344862.5_Missense_Mutation_p.E512V|PUS7L_ENST00000551923.1_Missense_Mutation_p.E512V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	512	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACAACCTTCCTCGGTCATGCC	0.448000													12	50					0	0	0.080935	0	0
PSD4	23550	broad.mit.edu	37	2	113942946	113942946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:113942946C>T	ENST00000245796.6	+	4	1373	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	PSD4_ENST00000441564.2_Missense_Mutation_p.S393F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	393					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACAGGCCTCTCTCAGCCCT	0.587000													21	90					0	0	0.083992	0	0
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	RNA	SNP	C	C	A	rs149044725	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr3:195395402C>A	ENST00000445430.1	+	0	809																											TACGGGCGCACCTACTTGAGC	0.597000													4	68					0.00198382	0.00213642	0.029380	1	0
ELN	2006	broad.mit.edu	37	7	73474268	73474268	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:73474268C>T	ENST00000252034.7	+	23	1866	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	ELN_ENST00000414324.1_Silent_p.V465V|ELN_ENST00000380553.4_Silent_p.V353V|ELN_ENST00000380562.4_Silent_p.V495V|ELN_ENST00000380575.4_Silent_p.V460V|ELN_ENST00000380576.5_Silent_p.V470V|ELN_ENST00000458204.1_Silent_p.V479V|ELN_ENST00000357036.5_Silent_p.V494V|ELN_ENST00000445912.1_Silent_p.V489V|ELN_ENST00000320399.6_Silent_p.V489V|ELN_ENST00000320492.7_Silent_p.V408V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.V475V|ELN_ENST00000380584.4_Silent_p.V456V|ELN_ENST00000358929.4_Silent_p.V524V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	518	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTCCTGGTGTCGGTGTGGCTC	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						15	174					0	0	0.041601	0	0
SI	6476	broad.mit.edu	37	3	164725717	164725717	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr3:164725717A>G	ENST00000264382.3	-	36	4311	c.4249T>C	c.(4249-4251)Tat>Cat	p.Y1417H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1417	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAAGGTGGATAATTTAGTTCG	0.264000										HNSCC(35;0.089)			8	75					0	0	0.069234	0	0
CCDC170	80129	broad.mit.edu	37	6	151857487	151857487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:151857487C>T	ENST00000367290.5	+	2	181	c.92C>T	c.(91-93)aCg>aTg	p.T31M	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.T31M			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	31								p.T31M(1)									GTCCCGGTCACGCGGGAGCAG	0.433000													5	57					0	0	0.021553	0	0
FMN2	56776	broad.mit.edu	37	1	240492666	240492666	+	Silent	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:240492666C>A	ENST00000319653.9	+	10	4565	c.4335C>A	c.(4333-4335)ccC>ccA	p.P1445P	FMN2_ENST00000545751.1_Silent_p.P41P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1445	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACTAATCCCCAACTTTTCAG	0.363000													11	87					0.000673444	0.000734666	0.069234	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215474	140215474	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:140215474C>T	ENST00000525929.1	+	1	1506	c.1506C>T	c.(1504-1506)cgC>cgT	p.R502R	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.R502R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGAGCGCGCGCTGTCGA	0.677000													13	79					0	0	0.024245	0	0
FBLN1	2192	broad.mit.edu	37	22	45929029	45929029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:45929029G>C	ENST00000348697.2	+	6	778	c.631G>C	c.(631-633)Ggt>Cgt	p.G211R	FBLN1_ENST00000402984.3_Missense_Mutation_p.G249R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G211R|FBLN1_ENST00000340923.5_Missense_Mutation_p.G211R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G211R|FBLN1_ENST00000327858.6_Missense_Mutation_p.G211R			P23142	FBLN1_HUMAN	fibulin 1	211	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGTCTGATGGTGTCTCCTG	0.637000													8	35					0	0	0.038147	0	0
MVP	9961	broad.mit.edu	37	16	29851704	29851704	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr16:29851704A>G	ENST00000357402.5	+	8	1253	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	MVP_ENST00000395353.1_Missense_Mutation_p.E372G|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	372					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCAAAGTGGAGGTGGTGGAG	0.612000													2	8					0	0	0.004672	0	0
HPX	3263	broad.mit.edu	37	11	6452604	6452604	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:6452604A>G	ENST00000265983.3	-	10	1326	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	409					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGACTTTTCCATACACAAGGC	0.562000													15	34					0	0	0.028581	0	0
TTN	7273	broad.mit.edu	37	2	179606565	179606565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:179606565C>T	ENST00000589042.1	-	48	11619	c.11395G>A	c.(11395-11397)Gaa>Aaa	p.E3799K	TTN_ENST00000359218.5_Missense_Mutation_p.E3561K|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E3482K|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3436K|TTN_ENST00000342175.6_Missense_Mutation_p.E3628K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3482			S -> Y (in CMD1G).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3436K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACAAAAGTTCAAGTGTTTCA	0.373000													4	12					0	0	0.009096	0	0
MAST1	22983	broad.mit.edu	37	19	12951871	12951871	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:12951871C>T	ENST00000251472.4	+	3	278	c.239C>T	c.(238-240)tCc>tTc	p.S80F	MAST1_ENST00000591495.1_Missense_Mutation_p.S76F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	80					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCGTTTGCCTCCTCCCGAAGG	0.627000													4	38					0	0	0.014758	0	0
MS4A14	84689	broad.mit.edu	37	11	60170536	60170536	+	Splice_Site	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:60170536T>C	ENST00000300187.6	+	4	745		c.e4+2		MS4A14_ENST00000531787.1_Splice_Site|MS4A14_ENST00000395001.1_Splice_Site|MS4A14_ENST00000395005.2_Splice_Site|MS4A14_ENST00000531783.1_Splice_Site	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14							integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTTTTCATTGTAAGTGGTCTT	0.343000													21	57					0	0	0.049695	0	0
CR1	1378	broad.mit.edu	37	1	207793408	207793408	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:207793408C>G	ENST00000367049.4	+	43	7250	c.7250C>G	c.(7249-7251)tCt>tGt	p.S2417C	CR1_ENST00000367052.1_Missense_Mutation_p.S1967C|CR1_ENST00000367051.1_Missense_Mutation_p.S1967C|CR1_ENST00000400960.2_Missense_Mutation_p.S1967C|CR1_ENST00000367053.1_Missense_Mutation_p.S1967C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1967					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAATGTACCTCTCGTAAGTGC	0.493000											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	0.009096	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823814	38823814	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:38823814C>T	ENST00000303592.3	-	2	582	c.324G>A	c.(322-324)ccG>ccA	p.P108P		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	108	Val/Gly/Ala/Pro stretch.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGGGGGCCACCGGGGCTGCTC	0.692000													15	23					0	0	0.020292	0	0
VPS36	51028	broad.mit.edu	37	13	53007799	53007799	+	Missense_Mutation	SNP	C	C	T	rs35567300		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr13:53007799C>T	ENST00000378060.4	-	6	553	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	176					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		ACAGTTACCTCAGAAATGTTT	0.343000													3	41					0	0	0.009096	0	0
IMMP2L	83943	broad.mit.edu	37	7	110303748	110303748	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:110303748G>A	ENST00000405709.2	-	6	880	c.438C>T	c.(436-438)gcC>gcT	p.A146A	IMMP2L_ENST00000450877.1_Silent_p.A128A|IMMP2L_ENST00000331762.3_Silent_p.A146A|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000452895.1_Silent_p.A146A|IMMP2L_ENST00000415362.1_Silent_p.A146A	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	146					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GGATATGTGTGGCATGGGCAT	0.418000													6	48					0	0	0.029380	0	0
ELN	2006	broad.mit.edu	37	7	73474271	73474271	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:73474271T>C	ENST00000252034.7	+	23	1869	c.1470T>C	c.(1468-1470)ggT>ggC	p.G490G	ELN_ENST00000414324.1_Silent_p.G466G|ELN_ENST00000380553.4_Silent_p.G354G|ELN_ENST00000380562.4_Silent_p.G496G|ELN_ENST00000380575.4_Silent_p.G461G|ELN_ENST00000380576.5_Silent_p.G471G|ELN_ENST00000458204.1_Silent_p.G480G|ELN_ENST00000357036.5_Silent_p.G495G|ELN_ENST00000445912.1_Silent_p.G490G|ELN_ENST00000320399.6_Silent_p.G490G|ELN_ENST00000320492.7_Silent_p.G409G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G476G|ELN_ENST00000380584.4_Silent_p.G457G|ELN_ENST00000358929.4_Silent_p.G525G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	519	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGGTGTCGGTGTGGCTCCTG	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						15	173					0	0	0.045515	0	0
HAUS8	93323	broad.mit.edu	37	19	17163638	17163638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:17163638C>T	ENST00000593360.1	-	9	2761	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	HAUS8_ENST00000448593.2_Missense_Mutation_p.R308Q|HAUS8_ENST00000253669.5_Missense_Mutation_p.R309Q|CTD-2528A14.3_ENST00000598893.1_RNA			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	309					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GAGGTACCTTCGGAGCTCAAG	0.527000											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	80					0	0	0.028581	0	0
SOGA3	387104	broad.mit.edu	37	6	127796911	127796911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:127796911C>T	ENST00000556132.1	-	6	3124	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K	SOGA3_ENST00000525778.1_Missense_Mutation_p.E754K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E754K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E754K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E754K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	754						integral to membrane											GCGTCGCTCTCGGCGTCGCTG	0.701000													11	83					0	0	0.093190	0	0
TGM5	9333	broad.mit.edu	37	15	43545012	43545012	+	Silent	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr15:43545012G>C	ENST00000220420.5	-	6	814	c.807C>G	c.(805-807)ggC>ggG	p.G269G	TGM5_ENST00000349114.4_Silent_p.G187G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	269					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CGGGCTGGCAGCCTGTGGCGT	0.592000													11	51					0	0	0.093190	0	0
TP53	7157	broad.mit.edu	37	17	7574012	7574012	+	Nonsense_Mutation	SNP	C	C	A	rs17882252		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr17:7574012C>A	ENST00000269305.4	-	10	1204	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	339	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252).|E -> Q (in a sporadic cancer; 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.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(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)		CGGAACATCTCGAAGCGCTCA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	10					0.014758	0.015692	0.014758	1	0
ELN	2006	broad.mit.edu	37	7	73474265	73474265	+	Silent	SNP	T	T	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:73474265T>A	ENST00000252034.7	+	23	1863	c.1464T>A	c.(1462-1464)ggT>ggA	p.G488G	ELN_ENST00000414324.1_Silent_p.G464G|ELN_ENST00000380553.4_Silent_p.G352G|ELN_ENST00000380562.4_Silent_p.G494G|ELN_ENST00000380575.4_Silent_p.G459G|ELN_ENST00000380576.5_Silent_p.G469G|ELN_ENST00000458204.1_Silent_p.G478G|ELN_ENST00000357036.5_Silent_p.G493G|ELN_ENST00000445912.1_Silent_p.G488G|ELN_ENST00000320399.6_Silent_p.G488G|ELN_ENST00000320492.7_Silent_p.G407G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G474G|ELN_ENST00000380584.4_Silent_p.G455G|ELN_ENST00000358929.4_Silent_p.G523G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	517	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGCTCCTGGTGTCGGTGTGG	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						9	174					0	0	0.108266	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													3	32					0	0	0.004672	0	0
PISD	23761	broad.mit.edu	37	22	32017676	32017676	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:32017676G>A	ENST00000382151.2	-	4	834	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	PISD_ENST00000266095.5_Silent_p.L139L|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000439502.2_Silent_p.L173L|PISD_ENST00000397500.1_Silent_p.L139L|PISD_ENST00000336566.4_Silent_p.L173L			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	173					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGCGGCTTCAGCTTGCGCCGG	0.602000													5	29					0	0	0.021553	0	0
ERAP1	51752	broad.mit.edu	37	5	96121595	96121595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:96121595C>T	ENST00000296754.3	-	13	2097	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|ERAP1_ENST00000443439.2_Missense_Mutation_p.D614N|CTD-2260A17.1_ENST00000602972.1_RNA	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	614					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CATCCATCATCCTCGTAATGC	0.413000													4	49					0	0	0.009096	0	0
CNN1	1264	broad.mit.edu	37	19	11651894	11651894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:11651894G>A	ENST00000252456.2	+	2	278	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.A3T	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	23					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCCCAGCTGGCCCAGAAGTA	0.632000													3	14					0	0	0.004672	0	0
RSBN1	54665	broad.mit.edu	37	1	114354936	114354936	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:114354936C>T	ENST00000261441.5	-	1	162	c.99G>A	c.(97-99)gcG>gcA	p.A33A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	33						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		CCCCCCCGTCCGCGCATCGCG	0.672000													4	53					0	0	0.014758	0	0
DNAH8	1769	broad.mit.edu	37	6	38704881	38704881	+	Silent	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:38704881C>G	ENST00000359357.3	+	4	404	c.150C>G	c.(148-150)ctC>ctG	p.L50L	DNAH8_ENST00000449981.2_Silent_p.L267L|DNAH8_ENST00000441566.1_Silent_p.L50L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGAAAGGACTCTTAAATGGAA	0.398000													5	83					0	0	0.029380	0	0
ACO1	48	broad.mit.edu	37	9	32423392	32423392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:32423392C>T	ENST00000379923.1	+	10	1252	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L	ACO1_ENST00000309951.5_Missense_Mutation_p.P349L|ACO1_ENST00000541043.1_Missense_Mutation_p.P250L	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	349					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTCAATGACCCTTCTCAAGAC	0.398000													6	43					0	0	0.029380	0	0
ZNF423	23090	broad.mit.edu	37	16	49672378	49672378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr16:49672378G>A	ENST00000561648.1	-	4	738	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ZNF423_ENST00000562520.1_Missense_Mutation_p.R169C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R169C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R112C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R229C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R169C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R112C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	229					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGAAGCCGCGCTTGCACACA	0.597000													6	46					0	0	0.021553	0	0
MAP1B	4131	broad.mit.edu	37	5	71491407	71491407	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:71491407C>T	ENST00000296755.7	+	5	2523	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	742	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAAAGAAATCATCTACTCCT	0.393000													8	77					0	0	0.047766	0	0
IRX1	79192	broad.mit.edu	37	5	3600115	3600115	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:3600115G>A	ENST00000302006.3	+	2	1105	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	351						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ccggggcgccgcTGCAACACC	0.721000													5	9					0	0	0.014758	0	0
CSNK2B	1460	broad.mit.edu	37	6	31635648	31635648	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:31635648G>C	ENST00000375880.2	+	3	194	c.76G>C	c.(76-78)Gat>Cat	p.D26H	CSNK2B_ENST00000375866.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.D45H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D26H																							CTGACAGGTGGATGAAGACTA	0.458000													13	20					0	0	0.093190	0	0
CLASRP	11129	broad.mit.edu	37	19	45555410	45555410	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:45555410G>C	ENST00000544944.2	+	2	873	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Missense_Mutation_p.E61Q			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	61					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCTGGCCGCTGAGAGCCCTGT	0.562000													4	49					0	0	0.009096	0	0
GPR4	2828	broad.mit.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617000													18	46					0	0	0.038395	0	0
UBR5	51366	broad.mit.edu	37	8	103309160	103309160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr8:103309160G>A	ENST00000520539.1	-	28	4232	c.3626C>T	c.(3625-3627)aCg>aTg	p.T1209M	UBR5_ENST00000521922.1_Missense_Mutation_p.T1203M|UBR5_ENST00000220959.4_Missense_Mutation_p.T1209M	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1209					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCACATTCCGTACAACAACA	0.318000													4	33					0	0	0.014758	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246281	100246281	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:100246281G>A	ENST00000160382.5	-	7	673	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	189					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGACTTGACGATGCCTAGAA	0.597000													9	13					0	0	0.058154	0	0
NID1	4811	broad.mit.edu	37	1	236180536	236180536	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:236180536C>T	ENST00000264187.6	-	10	2248	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	722	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TTGTGTGGCTCCCACACACTG	0.433000													18	93					0	0	0.043863	0	0
EVI5	7813	broad.mit.edu	37	1	93167729	93167729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:93167729C>T	ENST00000370331.1	-	5	749	c.740G>A	c.(739-741)aGt>aAt	p.S247N	EVI5_ENST00000540033.1_Missense_Mutation_p.S247N|EVI5_ENST00000543509.1_Missense_Mutation_p.S247N	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	247	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TATAAAAGCACTTCCTTGACA	0.308000													8	34					0	0	0.058154	0	0
GLO1	2739	broad.mit.edu	37	6	38670758	38670758	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:38670758G>A	ENST00000373365.4	-	1	159	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	25					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TTGGTACTGGGGTCCGCGTCG	0.711000													3	23					0	0	0.009096	0	0
TPCN2	219931	broad.mit.edu	37	11	68822187	68822187	+	Splice_Site	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:68822187A>G	ENST00000294309.3	+	3	275		c.e3-1		TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTCGCTTGTAGTACCGCTCC	0.577000													6	25					0	0	0.038147	0	0
UPF2	26019	broad.mit.edu	37	10	11973704	11973704	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr10:11973704C>G	ENST00000356352.2	-	19	4097	c.3624G>C	c.(3622-3624)gaG>gaC	p.E1208D	UPF2_ENST00000357604.5_Missense_Mutation_p.E1208D|UPF2_ENST00000397053.2_Missense_Mutation_p.E1208D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1208	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTCTCATCCTCTCTTCTTGTT	0.373000													10	58					0	0	0.080935	0	0
BRINP3	339479	broad.mit.edu	37	1	190203579	190203579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:190203579C>T	ENST00000367462.3	-	5	878	c.647G>A	c.(646-648)gGc>gAc	p.G216D	FAM5C_ENST00000534846.1_Missense_Mutation_p.G114D|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		216						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTTACTGCAGCCAAGAGGACC	0.378000													9	51					0	0	0.069234	0	0
HCRTR1	3061	broad.mit.edu	37	1	32084929	32084931	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:32084929_32084931delGAG	ENST00000403528.2	+	3	521_523	c.136_138delGAG	c.(136-138)del	p.E46del	HCRTR1_ENST00000373705.1_In_Frame_Del_p.E46del|HCRTR1_ENST00000373706.5_In_Frame_Del_p.E46del|HCRTR1_ENST00000468521.1_3'UTR	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	46					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		AAAACAGTATGAGTGGGTCCTCA	0.606													27	110	---	---	---	---					
CNTN6	27255	broad.mit.edu	37	3	1424634	1424636	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:1424634_1424636delAGA	ENST00000446702.2	+	18	2802_2804	c.2175_2177delAGA	c.(2173-2178)cca>cc	p.PE725del	CNTN6_ENST00000350110.2_In_Frame_Del_p.PE725del|CNTN6_ENST00000539053.1_In_Frame_Del_p.PE653del			Q9UQ52	CNTN6_HUMAN	contactin 6	725	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGTCAATTCCAGAAGAACTGCAG	0.384													12	29	---	---	---	---					
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)cccfs	p.P728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													3	6	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142490160	142490161	+	RNA	INS	-	-	C	rs58308413	by1000genomes	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:142490160_142490161insC	ENST00000430863.1	-	0	939					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CCTGTGCTTGACCCCCCCCAAG	0.614													5	4	---	---	---	---					
DOCK8	81704	broad.mit.edu	37	9	446516	446517	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:446516_446517insCA	ENST00000432829.2	+	44	5839_5840	c.5523_5524insCA	c.(5521-5526)ctatgafs	p.*1842fs	DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.*1377fs|DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.*1910fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.*1810fs	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1910					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGGGAGAGCTGCATGAGCAGTA	0.545													12	51	---	---	---	---					
SPATA31D1	389763	broad.mit.edu	37	9	84606915	84606923	+	In_Frame_Del	DEL	GCACAGCGA	GCACAGCGA	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:84606915_84606923delGCACAGCGA	ENST00000344803.2	+	4	1577_1585	c.1530_1538delGCACAGCGA	c.(1528-1539)ttg>tt	p.LHSE510del		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCCCATCTTTGCACAGCGAGTCTCTGCAT	0.445													8	29	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													27	605	---	---	---	---					
KRTAP4-9	100132386	broad.mit.edu	37	17	39261988	39261988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr17:39261988delC	ENST00000391415.1	+	1	405	c.348delC	c.(346-348)cafs	p.H116fs		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	116	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCTGCTGCCACCCTAGGtgct	0.652													8	12	---	---	---	---					
LZTS3	9762	broad.mit.edu	37	20	3146179	3146179	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:3146179delG	ENST00000329152.3	-	2	2684	c.1287delC	c.(1285-1287)gcfs	p.A429fs	LZTS3_ENST00000337576.5_Frame_Shift_Del_p.A383fs|LZTS3_ENST00000360342.3_Frame_Shift_Del_p.A383fs	NM_014731.2	NP_055546.1																					GCAGGAAGTCGGCCTGCTCCT	0.662													20	31	---	---	---	---					
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)cccfs	p.P728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													3	6	---	---	---	---					
DOCK8	81704	broad.mit.edu	37	9	446516	446517	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:446516_446517insCA	ENST00000432829.2	+	44	5839_5840	c.5523_5524insCA	c.(5521-5526)ctatgafs	p.*1842fs	DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.*1910fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.*1810fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.*1377fs	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1910					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGGGAGAGCTGCATGAGCAGTA	0.545													12	51	---	---	---	---					
SPATA31D1	389763	broad.mit.edu	37	9	84606915	84606923	+	In_Frame_Del	DEL	GCACAGCGA	GCACAGCGA	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:84606915_84606923delGCACAGCGA	ENST00000344803.2	+	4	1577_1585	c.1530_1538delGCACAGCGA	c.(1528-1539)ttg>tt	p.LHSE510del		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCCCATCTTTGCACAGCGAGTCTCTGCAT	0.445													8	29	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													27	605	---	---	---	---					
KRTAP4-9	100132386	broad.mit.edu	37	17	39261988	39261988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr17:39261988delC	ENST00000391415.1	+	1	405	c.348delC	c.(346-348)cafs	p.H116fs		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	116	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCTGCTGCCACCCTAGGtgct	0.652													8	12	---	---	---	---					
