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
CFH	3075	broad.mit.edu	37	1	196684815	196684815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:196684815G>T	ENST00000367429.4	+	11	1852	c.1612G>T	c.(1612-1614)Gat>Tat	p.D538Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	538	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAATGCCATGATGGTTATGA	0.378000													27	112					3.65163e-15	4.56454e-15	0.706142	1	0
CSMD2	114784	broad.mit.edu	37	1	34204867	34204867	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:34204867G>C	ENST00000373381.4	-	15	2418	c.2242C>G	c.(2242-2244)Cag>Gag	p.Q748E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	708	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGCCCAGCTGGAGGCTGTCC	0.572000													32	101					0	0	0.788014	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208842	65208842	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:65208842C>T	ENST00000247226.7	+	14	2747	c.2439C>T	c.(2437-2439)tcC>tcT	p.S813S	PLEKHG3_ENST00000394691.1_Silent_p.S869S|PLEKHG3_ENST00000471182.2_Silent_p.S402S|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Silent_p.S374S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	869					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGGAAAGCTCCTCTCCCACTG	0.652000													22	18					0	0	0.608945	0	0
ZNF536	9745	broad.mit.edu	37	19	31039034	31039034	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:31039034C>A	ENST00000355537.3	+	4	2655	c.2508C>A	c.(2506-2508)gaC>gaA	p.D836E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGGCCAGACATCCTGAGGG	0.582000													27	57					3.65163e-15	4.56454e-15	0.706142	1	0
MOGS	7841	broad.mit.edu	37	2	74689333	74689333	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:74689333G>T	ENST00000233616.4	-	4	1745	c.1583C>A	c.(1582-1584)cCt>cAt	p.P528H	MOGS_ENST00000452063.2_Missense_Mutation_p.P422H|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	528					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CAAGTCGTCAGGGTCACCAAC	0.597000													24	86					4.81078e-24	6.2014e-24	0.639603	1	0
STAC2	342667	broad.mit.edu	37	17	37369370	37369370	+	Silent	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:37369370G>T	ENST00000333461.5	-	10	1378	c.1009C>A	c.(1009-1011)Cgg>Agg	p.R337R		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	337	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						AAGCCAACCCGGTCGCCGATC	0.607000													28	32					1.77063e-15	2.24734e-15	0.693898	1	0
TRIM33	51592	broad.mit.edu	37	1	114964164	114964164	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:114964164T>A	ENST00000358465.2	-	11	2038	c.1955A>T	c.(1954-1956)aAt>aTt	p.N652I	TRIM33_ENST00000369543.2_Missense_Mutation_p.N652I|TRIM33_ENST00000450349.2_Missense_Mutation_p.N260I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	652					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGTTTGCATTTGCCATAGT	0.502000			T	RET	papillary thyroid								30	45					0	0	0.796494	0	0
NDUFB3	4709	broad.mit.edu	37	2	201943659	201943659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:201943659T>G	ENST00000237889.4	+	2	377	c.54T>G	c.(52-54)gaT>gaG	p.D18E	NDUFB3_ENST00000433898.1_Missense_Mutation_p.D18E|NDUFB3_ENST00000454214.1_Missense_Mutation_p.D18E	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	18					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	AACTTCCAGATTATAGACAAT	0.408000													4	49					0	0	0.150653	0	0
CRYBB3	1417	broad.mit.edu	37	22	25598707	25598707	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:25598707C>A	ENST00000215855.2	+	3	222	c.142C>A	c.(142-144)Ctg>Atg	p.L48M	CRYBB3_ENST00000404334.1_Missense_Mutation_p.L48M	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	48	Beta/gamma crystallin 'Greek key' 1.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GTGCCCCAGCCTGACCGACAG	0.602000											OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	34					9.62636e-23	1.23128e-22	0.624587	1	0
SSTR3	6753	broad.mit.edu	37	22	37603421	37603421	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:37603421C>T	ENST00000328544.3	-	2	955	c.422G>A	c.(421-423)cGc>cAc	p.R141H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R141H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	141					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GGCCAGGTAGCGGTCCACGCT	0.667000													61	71					0	0	0.870114	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	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													4	30					0	0	0.184627	0	0
PLCH1	23007	broad.mit.edu	37	3	155199435	155199435	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:155199435C>A	ENST00000460012.1	-	23	4647	c.4290G>T	c.(4288-4290)atG>atT	p.M1430I	PLCH1_ENST00000414191.1_Missense_Mutation_p.M1430I|PLCH1_ENST00000334686.6_Missense_Mutation_p.M1430I|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Missense_Mutation_p.M1468I|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1468					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGGGACATGCATATCTTGAG	0.473000													14	121					4.3838e-07	4.88735e-07	0.435327	1	0
TPH2	121278	broad.mit.edu	37	12	72416243	72416243	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:72416243C>A	ENST00000333850.3	+	9	1274	c.1133C>A	c.(1132-1134)gCa>gAa	p.A378E		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	378					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCATATGGAGCAGGACTCCTT	0.428000													16	55					1.33834e-09	1.54423e-09	0.557998	1	0
TDRD6	221400	broad.mit.edu	37	6	46661854	46661854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr6:46661854G>T	ENST00000544460.1	+	1	6243	c.5989G>T	c.(5989-5991)Gag>Tag	p.E1997*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1997*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1997					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTTGTTCTCTGAGGAAGAAAG	0.318000													11	124					0.00244969	0.00259102	0.457914	1	0
ASPM	259266	broad.mit.edu	37	1	197111716	197111716	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:197111716T>C	ENST00000367409.4	-	3	1922	c.1666A>G	c.(1666-1668)Aag>Gag	p.K556E	ASPM_ENST00000294732.7_Missense_Mutation_p.K556E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	556					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTATAACTCTTAGATTTACTT	0.353000													42	54					0	0	0.840704	0	0
OR5B17	219965	broad.mit.edu	37	11	58125655	58125655	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:58125655C>A	ENST00000357377.3	-	1	887	c.888G>T	c.(886-888)aaG>aaT	p.K296N		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAATGCATTCTTCACGTCTT	0.368000													19	105					1.33834e-09	1.54423e-09	0.557998	1	0
ZNF500	26048	broad.mit.edu	37	16	4815844	4815844	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:4815844G>C	ENST00000219478.6	-	2	435	c.136C>G	c.(136-138)Cct>Gct	p.P46A	ZNF500_ENST00000545009.1_Missense_Mutation_p.P46A			O60304	ZN500_HUMAN	zinc finger protein 500	46					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAAGTCTCAGGGCTGGGGTCC	0.642000													14	46					0	0	0.457914	0	0
COL1A1	1277	broad.mit.edu	37	17	48273527	48273527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:48273527C>T	ENST00000225964.5	-	15	1109	c.991G>A	c.(991-993)Gcc>Acc	p.A331T		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	331	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGGGCCCGGCAGCACCAGTA	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						11	19					0	0	0.411799	0	0
SEC16B	89866	broad.mit.edu	37	1	177909817	177909817	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:177909817C>T	ENST00000308284.6	-	17	2144	c.2055G>A	c.(2053-2055)ctG>ctA	p.L685L	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	685					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTTCTAAAACCAGAGGATCTG	0.547000													7	26					0	0	0.307466	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			38	31					0	0	0.812448	0	0
PRKAA1	5562	broad.mit.edu	37	5	40777689	40777689	+	Splice_Site	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr5:40777689C>G	ENST00000397128.2	-	2	136		c.e2-1		PRKAA1_ENST00000354209.3_Splice_Site|PRKAA1_ENST00000296800.4_Splice_Site	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit						activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGTTTGCCAACTGTAAAAGAA	0.378000													36	14					0	0	0.788014	0	0
OLFM3	118427	broad.mit.edu	37	1	102269859	102269859	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:102269859T>C	ENST00000370103.4	-	6	1525	c.1312A>G	c.(1312-1314)Aat>Gat	p.N438D	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.N458D	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	458	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGGTGGCCATTGTTCCAGGCA	0.418000													54	34					0	0	0.870114	0	0
CILP	8483	broad.mit.edu	37	15	65491100	65491100	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:65491100G>A	ENST00000261883.4	-	9	1690	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	508					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTACACATGGCCAAAGCGCA	0.597000													4	37					0	0	0.150653	0	0
CEP112	201134	broad.mit.edu	37	17	63898393	63898393	+	Silent	SNP	G	G	A	rs140758713		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:63898393G>A	ENST00000392769.2	-	20	2258	c.2040C>T	c.(2038-2040)aaC>aaT	p.N680N	CEP112_ENST00000537949.1_Silent_p.N638N|CEP112_ENST00000541355.1_Silent_p.N315N|CEP112_ENST00000535342.2_Silent_p.N680N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	680						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CCTTCTCTGCGTTATGCTGCT	0.463000													22	35					0	0	0.639603	0	0
PHF20L1	51105	broad.mit.edu	37	8	133858165	133858165	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:133858165A>G	ENST00000395386.2	+	21	3350	c.3051A>G	c.(3049-3051)gtA>gtG	p.V1017V	PHF20L1_ENST00000220847.7_Silent_p.V404V|PHF20L1_ENST00000395390.2_Silent_p.V992V	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	1017							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTTGCTCTGTATGACAACAGT	0.388000													21	13					0	0	0.624587	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937602	4937602	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:4937602C>A	ENST00000512825.2	-	3	1593	c.182G>T	c.(181-183)gGt>gTt	p.G61V	SLC52A1_ENST00000424747.1_Missense_Mutation_p.G61V|SLC52A1_ENST00000254853.5_Missense_Mutation_p.G61V			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	61						integral to plasma membrane	receptor activity|riboflavin transporter activity										CACCAGCAGACCCAGGTTTCC	0.627000													30	54					4.34311e-12	5.30824e-12	0.779181	1	0
TTLL5	23093	broad.mit.edu	37	14	76286467	76286467	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:76286467C>G	ENST00000298832.9	+	28	3494	c.3289C>G	c.(3289-3291)Caa>Gaa	p.Q1097E	TTLL5_ENST00000557636.1_Missense_Mutation_p.Q1112E|TTLL5_ENST00000556893.1_Missense_Mutation_p.Q648E|TTLL5_ENST00000554510.1_Missense_Mutation_p.Q606E|RP11-270M14.4_ENST00000556207.1_RNA	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1097					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTCAGACCCCCAAGCTCCCGA	0.562000													14	36					0	0	0.500413	0	0
VCPIP1	80124	broad.mit.edu	37	8	67576729	67576729	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:67576729G>C	ENST00000310421.4	-	1	2723	c.2465C>G	c.(2464-2466)cCt>cGt	p.P822R		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	822					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTCTTTAGGAGGAAACCCGTA	0.383000													28	125					0	0	0.693898	0	0
CLIP1	6249	broad.mit.edu	37	12	122862371	122862371	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:122862371G>C	ENST00000358808.2	-	3	376	c.222C>G	c.(220-222)atC>atG	p.I74M	CLIP1_ENST00000540338.1_Missense_Mutation_p.I74M|CLIP1_ENST00000537178.1_Missense_Mutation_p.I74M|CLIP1_ENST00000361654.4_Missense_Mutation_p.I74M|CLIP1_ENST00000302528.7_Missense_Mutation_p.I74M	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	74					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CAAGAAACTGGATAAATCCAG	0.483000													124	53					0	0	0.870114	0	0
GXYLT1	283464	broad.mit.edu	37	12	42512903	42512903	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:42512903C>G	ENST00000398675.3	-	3	617	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	GXYLT1_ENST00000280876.6_Missense_Mutation_p.E98Q	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	129					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTCATAGTTTCTTCCAGTCTT	0.378000													17	81					0	0	0.520397	0	0
ID1	3397	broad.mit.edu	37	20	30193543	30193543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr20:30193543C>T	ENST00000376105.3	+	1	452	c.353C>T	c.(352-354)cCc>cTc	p.P118L	ID1_ENST00000376112.3_Missense_Mutation_p.P118L	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	118					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTTGGAACCCCCGGGGGCCGA	0.622000													4	17					0	0	0.184627	0	0
C2orf16	84226	broad.mit.edu	37	2	27804812	27804812	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:27804812C>T	ENST00000408964.2	+	1	5424	c.5373C>T	c.(5371-5373)caC>caT	p.H1791H	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1791	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAAGCCATCACAGTCCCTCTG	0.542000													27	150					0	0	0.693898	0	0
LPPR4	9890	broad.mit.edu	37	1	99772407	99772407	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:99772407C>T	ENST00000370185.3	+	7	2630	c.2133C>T	c.(2131-2133)agC>agT	p.S711S	LPPR4_ENST00000370184.1_Silent_p.S553S|LPPR4_ENST00000457765.1_Silent_p.S653S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		711							phosphatidate phosphatase activity	p.S711R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TAGAGGGCAGCGAAATTGGCT	0.522000													6	28					0	0	0.217242	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092702	79092702	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:79092702G>A	ENST00000388820.4	-	2	498	c.288C>T	c.(286-288)acC>acT	p.T96T	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	96					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCTGATTGGCGGTCAGGTTGA	0.731000													4	6					0	0	0.217242	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42864075	42864075	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:42864075C>A	ENST00000455697.1	-	3	504	c.219G>T	c.(217-219)ttG>ttT	p.L73F	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.L73F|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.L73F|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.L73F|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.L73F	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	73	PET.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTAACTGGTACAAAAGCTGTT	0.398000													9	47					0.000274275	0.000295787	0.307466	1	0
CYP4X1	260293	broad.mit.edu	37	1	47515807	47515807	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:47515807T>G	ENST00000371901.3	+	12	1741	c.1491T>G	c.(1489-1491)aaT>aaG	p.N497K	CYP4X1_ENST00000538609.1_Missense_Mutation_p.N496K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	497						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGCCCAAGAATGGGATGTATT	0.408000													19	116					0	0	0.557998	0	0
CSMD1	64478	broad.mit.edu	37	8	2820154	2820154	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:2820154G>A	ENST00000602557.1	-	62	10020	c.9465C>T	c.(9463-9465)ttC>ttT	p.F3155F	CSMD1_ENST00000400186.3_Silent_p.F2978F|CSMD1_ENST00000520002.1_Silent_p.F3155F|CSMD1_ENST00000542608.1_Silent_p.F2977F|CSMD1_ENST00000537824.1_Silent_p.F3154F|CSMD1_ENST00000602723.1_Silent_p.F2978F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3155	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTCTCCGCAGAACACAGCTA	0.463000													3	14					0	0	0.115264	0	0
C7orf25	79020	broad.mit.edu	37	7	42949873	42949873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:42949873C>G	ENST00000350427.4	-	2	902	c.627G>C	c.(625-627)gaG>gaC	p.E209D	C7orf25_ENST00000447342.1_Missense_Mutation_p.E209D|C7orf25_ENST00000431882.2_Missense_Mutation_p.E267D|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.E209D			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	209										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTGATTCACTCTCACTTGGTT	0.458000													27	25					0	0	0.693898	0	0
OCA2	4948	broad.mit.edu	37	15	28326955	28326955	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:28326955C>T	ENST00000354638.3	-	2	221	c.66G>A	c.(64-66)acG>acA	p.T22T	OCA2_ENST00000353809.5_Silent_p.T22T|OCA2_ENST00000382996.2_Silent_p.T22T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	22					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGGGCACGGACGTCTGCAGGA	0.701000									Oculocutaneous Albinism				17	9					0	0	0.520397	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													3	115					0	0	0.278610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25325297	25325297	+	RNA	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:25325297G>A	ENST00000549804.2	+	0	1377				SNORD116-14_ENST00000383894.1_RNA																							GTGGATCGATGATGACTTCCA	0.428000													46	48					0	0	0.870114	0	0
PROCA1	147011	broad.mit.edu	37	17	27031231	27031231	+	Splice_Site	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:27031231C>T	ENST00000301039.2	-	4	550		c.e4-1		PROCA1_ENST00000581289.1_Splice_Site|PROCA1_ENST00000579650.1_Splice_Site|PROCA1_ENST00000439862.3_Splice_Site	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1						lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GCTTTTGCACCTGGGAGAAGG	0.572000													20	79					0	0	0.608945	0	0
CUL3	8452	broad.mit.edu	37	2	225400286	225400286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:225400286G>A	ENST00000264414.4	-	3	675	c.337C>T	c.(337-339)Caa>Taa	p.Q113*	CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q89*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.Q47*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q89*|CUL3_ENST00000432260.2_5'UTR	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	113					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATAGCTGTTTGATGATCATTC	0.333000													20	8					0	0	0.592651	0	0
CALCR	799	broad.mit.edu	37	7	93106945	93106945	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:93106945A>G	ENST00000359558.2	-	6	594	c.295T>C	c.(295-297)Tgc>Cgc	p.C99R	CALCR_ENST00000421592.1_Missense_Mutation_p.C81R|CALCR_ENST00000360249.4_Missense_Mutation_p.C81R|CALCR_ENST00000394441.1_Missense_Mutation_p.C81R|CALCR_ENST00000426151.1_Missense_Mutation_p.C81R	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	81					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCATCCCAGCACAGCCATCCA	0.418000													16	27					0	0	0.575678	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115525	220115525	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:220115525G>A	ENST00000392088.2	-	4	1406	c.851C>T	c.(850-852)gCc>gTc	p.A284V	TUBA4A_ENST00000248437.4_Missense_Mutation_p.A299V|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	299					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCTGGTTGGCAGGCTCAAA	0.572000													18	83					0	0	0.539581	0	0
MACF1	23499	broad.mit.edu	37	1	39833905	39833905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:39833905C>T	ENST00000564288.1	+	50	13634	c.12857C>T	c.(12856-12858)gCg>gTg	p.A4286V	MACF1_ENST00000539005.1_Missense_Mutation_p.A2224V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2224V|MACF1_ENST00000289893.4_Missense_Mutation_p.A2726V|MACF1_ENST00000317713.7_Missense_Mutation_p.A2224V|MACF1_ENST00000567887.1_Missense_Mutation_p.A4323V|MACF1_ENST00000361689.2_Missense_Mutation_p.A2224V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.A4291V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4291					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGGCTTTGCGCTGGACTTG	0.453000													31	48					0	0	0.779181	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869581	151869581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chrX:151869581G>A	ENST00000329342.5	+	3	496	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	91							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAACCAAGAAGAGGAGGG	0.557000													14	27					0	0	0.457914	0	0
RASGRF1	5923	broad.mit.edu	37	15	79294032	79294032	+	Silent	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:79294032G>T	ENST00000419573.3	-	17	2869	c.2595C>A	c.(2593-2595)ccC>ccA	p.P865P	RASGRF1_ENST00000558480.2_Silent_p.P849P|RASGRF1_ENST00000394745.3_Silent_p.P81P|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	867					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGACTGATTTGGGTGTTGTTG	0.408000													24	93					2.48779e-11	3.01828e-11	0.693898	1	0
CCT7	10574	broad.mit.edu	37	2	73470213	73470213	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:73470213C>T	ENST00000539919.1	+	5	588	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	CCT7_ENST00000258091.5_Missense_Mutation_p.H117Y|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000537131.1_Missense_Mutation_p.H17Y|CCT7_ENST00000538797.1_Silent_p.Y6Y|CCT7_ENST00000540468.1_Missense_Mutation_p.H30Y|CCT7_ENST00000473786.1_3'UTR	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	117					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GGAAGGTTTACACCCCCAGAT	0.517000													6	74					0	0	0.217242	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364532	142364532	+	RNA	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:142364532A>G	ENST00000390397.2	+	0	203																											TGGTATCGACAAGACCCAGGA	0.443000													8	20					0	0	0.278610	0	0
TNRC6C	57690	broad.mit.edu	37	17	76089205	76089205	+	Splice_Site	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:76089205G>C	ENST00000335749.4	+	15	4722	c.4153_splice	c.e15+1	p.E1385_splice	TNRC6C_ENST00000541771.1_Splice_Site_p.E1388_splice|TNRC6C_ENST00000588847.1_Splice_Site_p.E1385_splice|TNRC6C_ENST00000588061.1_Splice_Site_p.E1388_splice|TNRC6C_ENST00000544502.1_Splice_Site_p.E1385_splice|TNRC6C_ENST00000301624.4_Splice_Site_p.E1388_splice	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1388	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGGCCCCCAGGTAAGACCAT	0.522000													10	13					0	0	0.361761	0	0
VAPA	9218	broad.mit.edu	37	18	9944946	9944946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr18:9944946C>T	ENST00000340541.4	+	5	638	c.443C>T	c.(442-444)cCg>cTg	p.P148L	VAPA_ENST00000584796.1_Intron|VAPA_ENST00000400000.2_Intron			Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	139					cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						GGGAATGCTCCGACTGTCACT	0.473000													15	27					0	0	0.457914	0	0
ANKS6	203286	broad.mit.edu	37	9	101552738	101552738	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:101552738C>A	ENST00000353234.4	-	2	557	c.510G>T	c.(508-510)gtG>gtT	p.V170V	ANKS6_ENST00000375018.1_Silent_p.V170V|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000471846.1_5'UTR			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	170										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGTGATGGTCCACAAAGGCAC	0.652000													8	11					0.00307968	0.00323661	0.278610	1	0
SLC25A3	5250	broad.mit.edu	37	12	98987764	98987764	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:98987764C>G	ENST00000188376.5	+	1	362	c.8C>G	c.(7-9)tCg>tGg	p.S3W	SLC25A3_ENST00000551917.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000551265.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000548847.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000549338.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000401722.3_Missense_Mutation_p.S3W|SLC25A3_ENST00000552981.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000228318.3_Missense_Mutation_p.S3W|SLC25A3_ENST00000547534.1_Missense_Mutation_p.S3W	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	3					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AAGATGTTCTCGTCCGTGGCG	0.662000													11	29					0	0	0.457914	0	0
RNF213	57674	broad.mit.edu	37	17	78351573	78351573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:78351573G>A	ENST00000582970.1	+	54	13665	c.13522G>A	c.(13522-13524)Ggc>Agc	p.G4508S	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGTCCCAACGGCCATCCTTG	0.532000													68	106					0	0	0.870114	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717063	13717063	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:13717063C>T	ENST00000279593.3	-	13	3318	c.3109G>A	c.(3109-3111)Gac>Aac	p.D1037N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1037					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGTACAGGTCACTGAGCTGG	0.582000													25	16					0	0	0.681144	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256533	69256533	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:69256533T>A	ENST00000439696.2	-	2	1035	c.734A>T	c.(733-735)gAt>gTt	p.D245V	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D245V	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	245					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTGGTGCCATCGGGCAGGGT	0.672000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	80	111					0	0	0.870114	0	0
PLCB3	5331	broad.mit.edu	37	11	64033990	64033990	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:64033990G>C	ENST00000540288.1	+	29	3483	c.3380G>C	c.(3379-3381)cGg>cCg	p.R1127P	PLCB3_ENST00000325234.5_Missense_Mutation_p.R1060P|PLCB3_ENST00000279230.6_Missense_Mutation_p.R1127P	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1127					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ATTAACCGTCGGCACATCACT	0.637000													7	42					0	0	0.278610	0	0
KLF15	28999	broad.mit.edu	37	3	126071260	126071260	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:126071260G>A	ENST00000296233.3	-	2	736	c.506C>T	c.(505-507)gCc>gTc	p.A169V		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	169						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CTGGCTGCAGGCATCCAAGTC	0.612000													25	22					0	0	0.654019	0	0
ANKRD26	22852	broad.mit.edu	37	10	27352931	27352931	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr10:27352931T>C	ENST00000376087.4	-	12	1514	c.1349A>G	c.(1348-1350)aAt>aGt	p.N450S	ANKRD26_ENST00000436985.2_Missense_Mutation_p.N499S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	450						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGCTTGTTCATTTCCTATATT	0.323000													21	15					0	0	0.654019	0	0
GPR27	2850	broad.mit.edu	37	3	71804252	71804252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:71804252C>T	ENST00000304411.2	+	1	1052	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	351						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGCTTCAGGGCCCAGTTCCCC	0.657000													9	5					0	0	0.307466	0	0
WNT3	7473	broad.mit.edu	37	17	44845973	44845973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:44845973C>G	ENST00000225512.5	-	4	943	c.781G>C	c.(781-783)Gcc>Ccc	p.A261P		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	261					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAGTACTTGGCCCGGAGGGTC	0.592000													51	60					0	0	0.870114	0	0
SSPO	23145	broad.mit.edu	37	7	149480698	149480698	+	RNA	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:149480698T>C	ENST00000378016.2	+	0	2404							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGTGCTGTCTGCCTATGC	0.637000													37	82					0	0	0.812448	0	0
OR11L1	391189	broad.mit.edu	37	1	248004560	248004560	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:248004560C>A	ENST00000355784.2	-	1	694	c.639G>T	c.(637-639)ctG>ctT	p.L213L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCCCAGTGTCAGAAAAAAAC	0.507000													28	39					1.16021e-09	1.35769e-09	0.717897	1	0
MUC6	4588	broad.mit.edu	37	11	1016020	1016020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:1016020C>T	ENST00000421673.2	-	31	6831	c.6781G>A	c.(6781-6783)Gcc>Acc	p.A2261T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2261	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGCAGGGGCGGTGTGGGTG	0.627000													37	162					0	0	0.840704	0	0
ATAD5	79915	broad.mit.edu	37	17	29162894	29162894	+	Silent	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:29162894A>C	ENST00000321990.4	+	2	2173	c.1795A>C	c.(1795-1797)Aga>Cga	p.R599R	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	599					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGATCTGGAAGAATTAGCAG	0.398000													24	87					0	0	0.693898	0	0
PRB1	5542	broad.mit.edu	37	12	11508453	11508453	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:11508453G>T	ENST00000500254.2	-	1	72	c.35C>A	c.(34-36)gCc>gAc	p.A12D	PRB1_ENST00000545626.1_Missense_Mutation_p.A12D|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	12						extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGAGCTCAGGGCCAGCAAGGC	0.502000													6	45					5.18039e-06	5.73668e-06	0.278610	1	0
OR5H2	79310	broad.mit.edu	37	3	98002139	98002139	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:98002139A>G	ENST00000355273.2	+	1	408	c.408A>G	c.(406-408)ctA>ctG	p.L136L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AACCTTTACTATATCCAGTGA	0.368000													22	76					0	0	0.654019	0	0
DDB1	1642	broad.mit.edu	37	11	61070101	61070101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:61070101G>A	ENST00000301764.7	-	24	3462	c.3065C>T	c.(3064-3066)aCc>aTc	p.T1022I	DDB1_ENST00000450997.2_Missense_Mutation_p.T333I|DDB1_ENST00000538470.1_Missense_Mutation_p.T69I|DDB1_ENST00000451943.2_Missense_Mutation_p.T9I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1022	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TTGTGTGGGGGTGGAAGTCTC	0.582000								Nucleotide excision repair (NER)					90	117					0	0	0.870114	0	0
MALAT1	378938	broad.mit.edu	37	11	65273243	65273243	+	RNA	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:65273243A>G	ENST00000534336.1	+	0	8011					NR_002819.2																						AAGTAGCTCTATTATAATACT	0.373000													21	43					0	0	0.639603	0	0
PFKFB2	5208	broad.mit.edu	37	1	207242833	207242833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:207242833G>A	ENST00000367080.3	+	11	1176	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	PFKFB2_ENST00000545806.1_Missense_Mutation_p.R318Q|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R351Q|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R253Q|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000541914.1_Missense_Mutation_p.R165Q	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	351	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TTTGCACTTCGAGATCAAGAG	0.458000													14	67					0	0	0.479597	0	0
FLG	2312	broad.mit.edu	37	1	152283935	152283935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:152283935C>A	ENST00000368799.1	-	3	3462	c.3427G>T	c.(3427-3429)Gga>Tga	p.G1143*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1143	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGGATCCTTGTCTTCGT	0.592000									Ichthyosis				12	285					1.05317e-09	1.24124e-09	0.457914	1	0
ZNF431	170959	broad.mit.edu	37	19	21365730	21365730	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:21365730A>G	ENST00000311048.7	+	5	768	c.624A>G	c.(622-624)aaA>aaG	p.K208K	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AATGTAAAAAATGTGGCAAAT	0.284000													12	32					0	0	0.411799	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987418	50987418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:50987418C>T	ENST00000395676.2	+	1	957	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	275										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCAGCCTGCGGACCGGCCG	0.746000													10	5					0	0	0.361761	0	0
TXK	7294	broad.mit.edu	37	4	48096214	48096214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:48096214C>A	ENST00000264316.4	-	8	674	c.589G>T	c.(589-591)Gag>Tag	p.E197*	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	197	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ATGGCAGCCTCCGTACTTCTA	0.368000													4	30					0.00909568	0.00937992	0.150653	1	0
IGSF21	84966	broad.mit.edu	37	1	18691843	18691843	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:18691843A>C	ENST00000251296.1	+	6	1050	c.667A>C	c.(667-669)Acc>Ccc	p.T223P		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	223						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCTGGATGACACCAAGATGCA	0.652000													16	47					0	0	0.500413	0	0
JAG1	182	broad.mit.edu	37	20	10639359	10639359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr20:10639359T>C	ENST00000254958.5	-	4	966	c.451A>G	c.(451-453)Att>Gtt	p.I151V	JAG1_ENST00000423891.2_5'UTR	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	151					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTTTCAATAATACTGTCAGGT	0.448000									Alagille Syndrome				16	80					0	0	0.557998	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882508	43882508	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr10:43882508T>C	ENST00000443950.2	-	3	1311	c.825A>G	c.(823-825)agA>agG	p.R275R	HNRNPF_ENST00000337970.3_Silent_p.R275R|HNRNPF_ENST00000357065.4_Silent_p.R275R|HNRNPF_ENST00000544000.1_Silent_p.R275R|HNRNPF_ENST00000356053.3_Silent_p.R275R	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	275					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TGTCGCCGTATCTGTGGTCAT	0.557000													19	16					0	0	0.557998	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379827	145379827	+	Silent	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr5:145379827C>G	ENST00000511217.1	+	2	637	c.585C>G	c.(583-585)ctC>ctG	p.L195L	SH3RF2_ENST00000359120.4_Silent_p.L195L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	195	SH3 2.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGGCCCTCTACAACTTCG	0.602000													14	11					0	0	0.479597	0	0
NLGN1	22871	broad.mit.edu	37	3	173998976	173998976	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:173998976C>T	ENST00000457714.1	+	7	2784	c.2355C>T	c.(2353-2355)ccC>ccT	p.P785P	NLGN1_ENST00000361589.4_Silent_p.P785P|NLGN1_ENST00000401917.3_Silent_p.P825P|NLGN1_ENST00000545397.1_Silent_p.P785P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	802					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAATGATTCCCAACACTATAC	0.483000													18	77					0	0	0.520397	0	0
PRPF4	9128	broad.mit.edu	37	9	116038996	116038996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:116038996A>G	ENST00000374199.4	+	2	597	c.196A>G	c.(196-198)Ata>Gta	p.I66V	PRPF4_ENST00000374198.4_Missense_Mutation_p.I67V			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	67						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						AAATATTAATATAACCTCTGG	0.388000													87	101					0	0	0.870114	0	0
ANKS6	203286	broad.mit.edu	37	9	101552737	101552737	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:101552737C>A	ENST00000353234.4	-	2	558	c.511G>T	c.(511-513)Gac>Tac	p.D171Y	ANKS6_ENST00000375018.1_Missense_Mutation_p.D171Y|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000471846.1_5'UTR			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	171										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGGTGATGGTCCACAAAGGCA	0.652000													7	11					0.00198382	0.00211181	0.248553	1	0
TTN	7273	broad.mit.edu	37	2	179430729	179430729	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:179430729A>G	ENST00000589042.1	-	326	80354	c.80130T>C	c.(80128-80130)gaT>gaC	p.D26710D	TTN_ENST00000591111.1_Silent_p.D25069D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.D17837D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.D24142D|TTN_ENST00000460472.2_Silent_p.D17645D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.D17770D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25069							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)			TTGCCCCTCCATCAATGATGG	0.433000													33	132					0	0	0.740014	0	0
ADD2	119	broad.mit.edu	37	2	70901925	70901925	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:70901925G>A	ENST00000264436.3	-	14	2070	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D	ADD2_ENST00000407644.2_Silent_p.D542D|ADD2_ENST00000355733.3_Silent_p.D542D	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	542					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGGTATCCTCGTCTCCCTTGG	0.557000													46	30					0	0	0.870114	0	0
CNTN2	6900	broad.mit.edu	37	1	205038984	205038984	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:205038984C>T	ENST00000331830.4	+	18	2510	c.2226C>T	c.(2224-2226)gaC>gaT	p.D742D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	742	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAACGGAGACGGCTTCGGCT	0.667000													85	143					0	0	0.870114	0	0
CIT	11113	broad.mit.edu	37	12	120139472	120139472	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:120139472C>T	ENST00000392521.2	-	43	5554	c.5499G>A	c.(5497-5499)gtG>gtA	p.V1833V	CIT_ENST00000261833.7_Silent_p.V1791V|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1791	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGCGCTGTTCACCTGCACGA	0.562000													7	30					0	0	0.278610	0	0
PDE7A	5150	broad.mit.edu	37	8	66691976	66691976	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:66691976T>C	ENST00000401827.3	-	3	705	c.262A>G	c.(262-264)Att>Gtt	p.I88V	PDE7A_ENST00000396642.3_Missense_Mutation_p.I88V|PDE7A_ENST00000379419.4_Missense_Mutation_p.I62V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	88						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CGAAAATCAATATATGGGTGA	0.348000													20	139					0	0	0.592651	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52148741	52148741	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:52148741C>A	ENST00000360844.6	-	4	784	c.743G>T	c.(742-744)gGc>gTc	p.G248V	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'UTR|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	248	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGTGCCTGTGCCATTTCTGAA	0.552000													14	44					1.5842e-08	1.79036e-08	0.435327	1	0
XKR5	389610	broad.mit.edu	37	8	6679525	6679525	+	RNA	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:6679525C>T	ENST00000518724.1	-	0	823							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CTCTGCTGGGCGACAAGCCAG	0.607000													3	9					0	0	0.115264	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													5	201					0	0	0.217242	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790786	194790786	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:194790786C>T	ENST00000310380.6	-	4	948	c.840G>A	c.(838-840)ccG>ccA	p.P280P	XXYLT1_ENST00000355729.4_Silent_p.P77P|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000429994.1_Silent_p.P134P|XXYLT1_ENST00000437101.1_Silent_p.P77P|XXYLT1_ENST00000356740.5_Silent_p.P74P	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	280						integral to membrane	transferase activity, transferring glycosyl groups										CCTCGGGGGGCGGGCCCCCAA	0.677000													22	87					0	0	0.608945	0	0
PAXIP1	22976	broad.mit.edu	37	7	154767472	154767472	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:154767472C>T	ENST00000404141.1	-	6	1162	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.R336R			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	336					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCCTCAGTGTCCGTACAGCTG	0.428000													20	17					0	0	0.592651	0	0
HLCS	3141	broad.mit.edu	37	21	38308946	38308946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr21:38308946C>T	ENST00000399120.1	-	5	2029	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	HLCS_ENST00000336648.3_Missense_Mutation_p.V267I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	267					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AAGTTCTGGACTGTCTTGTGC	0.572000													18	44					0	0	0.539581	0	0
USP46	64854	broad.mit.edu	37	4	53470719	53470719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:53470719C>T	ENST00000441222.2	-	6	854	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	USP46_ENST00000451218.2_Missense_Mutation_p.E197K|USP46_ENST00000508499.1_Missense_Mutation_p.E217K	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	224					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TATTTTTGTTCACTACACAGT	0.358000													21	13					0	0	0.624587	0	0
FBF1	85302	broad.mit.edu	37	17	73915827	73915827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:73915827G>A	ENST00000586717.1	-	19	2291	c.2018C>T	c.(2017-2019)aCg>aTg	p.T673M	FBF1_ENST00000389570.4_Missense_Mutation_p.T673M|FBF1_ENST00000319129.5_Missense_Mutation_p.T672M			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	672										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GTGCTGGGCCGTAAGCTCAGC	0.667000													3	37					0	0	0.115264	0	0
ADAR	103	broad.mit.edu	37	1	154562371	154562371	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:154562371T>C	ENST00000368474.4	-	8	2729	c.2530A>G	c.(2530-2532)Ata>Gta	p.I844V	ADAR_ENST00000368471.3_Missense_Mutation_p.I549V|ADAR_ENST00000292205.5_Missense_Mutation_p.I887V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	844					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AGCATGGCTATCTGGTCATGG	0.552000													22	16					0	0	0.667858	0	0
MICAL2	9645	broad.mit.edu	37	11	12241956	12241956	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:12241956G>T	ENST00000256194.4	+	9	1445	c.1157G>T	c.(1156-1158)cGg>cTg	p.R386L	MICAL2_ENST00000342902.5_Missense_Mutation_p.R386L|MICAL2_ENST00000527546.1_Missense_Mutation_p.R386L|MICAL2_ENST00000379612.3_Missense_Mutation_p.R386L|MICAL2_ENST00000537344.1_Missense_Mutation_p.R386L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	386						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTGCGGGAGCGGCAGGCGCAC	0.592000													3	64					0.115264	0.116678	0.115264	1	0
MED13	9969	broad.mit.edu	37	17	60087936	60087936	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:60087936G>T	ENST00000397786.2	-	9	2018	c.1942C>A	c.(1942-1944)Cag>Aag	p.Q648K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	648					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACACTTTCCTGTCCAAAAGGT	0.348000													8	38					1.12685e-05	1.23133e-05	0.307466	1	0
ORC2	4999	broad.mit.edu	37	2	201798644	201798644	+	Silent	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:201798644G>C	ENST00000234296.2	-	10	1011	c.762C>G	c.(760-762)acC>acG	p.T254T		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	254					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TTCTATCAGAGGTTAAAACTT	0.343000													8	84					0	0	0.278610	0	0
NBPF1	55672	broad.mit.edu	37	1	16902841	16902841	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:16902841C>A	ENST00000430580.2	-	19	2927	c.2040G>T	c.(2038-2040)aaG>aaT	p.K680N	NBPF1_ENST00000432949.1_Missense_Mutation_p.K138N|NBPF1_ENST00000287968.8_Missense_Mutation_p.K45N	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	680						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)		GCCCCTGGGACTTGTCTGGCT	0.582000													18	653					3.01185e-09	3.45108e-09	0.667858	1	0
UGT2A3	79799	broad.mit.edu	37	4	69796456	69796456	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:69796456G>C	ENST00000251566.4	-	5	1142	c.1112C>G	c.(1111-1113)aCt>aGt	p.T371S	UGT2A3_ENST00000420231.2_Missense_Mutation_p.T82S	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	371						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCACCATGAGTGATAAAAGC	0.358000													11	5					0	0	0.411799	0	0
DNAH9	1770	broad.mit.edu	37	17	11660996	11660996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:11660996A>G	ENST00000262442.3	+	35	7050	c.6982A>G	c.(6982-6984)Aca>Gca	p.T2328A	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2328A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2328	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCTAGACACACTCAGAAC	0.468000													20	15					0	0	0.608945	0	0
TXK	7294	broad.mit.edu	37	4	48096215	48096215	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:48096215C>A	ENST00000264316.4	-	8	673	c.588G>T	c.(586-588)acG>acT	p.T196T	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	196	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TGGCAGCCTCCGTACTTCTAC	0.373000													4	30					0.00909568	0.00937992	0.150653	1	0
ZBTB18	10472	broad.mit.edu	37	1	244217113	244217113	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:244217113C>G	ENST00000358704.4	+	2	186	c.37C>G	c.(37-39)Cca>Gca	p.P13A		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		TATGGAGTTTCCAGACCATAG	0.473000													3	44					0	0	0.150653	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660784	233660784	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:233660784A>G	ENST00000373566.3	+	15	1755	c.1558A>G	c.(1558-1560)Atg>Gtg	p.M520V	GIGYF2_ENST00000409480.1_Missense_Mutation_p.M520V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.M498V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.M519V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.M492V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.M498V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M329V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	498					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCTGAGAAAATGGTGGCTTA	0.383000													14	64					0	0	0.479597	0	0
GAREM	64762	broad.mit.edu	37	18	29848299	29848299	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr18:29848299G>A	ENST00000399218.4	-	6	2218	c.2163C>T	c.(2161-2163)tgC>tgT	p.C721C	GAREM_ENST00000269209.6_Silent_p.C722C	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		GTAAGGCAGGGCATGACGTAC	0.532000													13	72					0	0	0.457914	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458369	45458369	+	RNA	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:45458369C>A	ENST00000548424.1	+	0	448																											GGTGGGGTCACTGTTCCAAGG	0.532000													10	6					9.70103e-10	1.15156e-09	0.361761	1	0
THBS1	7057	broad.mit.edu	37	15	39884807	39884807	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:39884807C>G	ENST00000260356.5	+	17	2736	c.2571C>G	c.(2569-2571)gaC>gaG	p.D857E		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	857					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ATACCTGTGACAACAATCAGG	0.443000													4	5					0	0	0.184627	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414710	213414710	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:213414710C>G	ENST00000366960.3	+	11	2041	c.1891C>G	c.(1891-1893)Cca>Gca	p.P631A	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P619A|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.P334A|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P419A|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	631					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACCTTTGAAACCATTCTTTAC	0.403000													25	43					0	0	0.654019	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762231	92762231	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:92762231C>A	ENST00000318238.4	-	5	4270	c.3054G>T	c.(3052-3054)gaG>gaT	p.E1018D	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1018D|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1018D	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1018										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAATAAATTCTCTTCTAATA	0.363000													22	55					5.35356e-11	6.44772e-11	0.639603	1	0
ZNF534	147658	broad.mit.edu	37	19	52941671	52941671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:52941671C>A	ENST00000332323.6	+	4	1058	c.997C>A	c.(997-999)Cat>Aat	p.H333N	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H320N|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCTTGTAATCCATACTGGAGA	0.418000													11	10					0.000978159	0.00104803	0.387290	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	32					0	0	0.115264	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917380	99917380	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:99917380C>A	ENST00000332397.6	+	9	1723	c.1539C>A	c.(1537-1539)ttC>ttA	p.F513L	SPDYE3_ENST00000437326.2_Missense_Mutation_p.F136L	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	513										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGTTCCAGTTCTTCTGTTCCA	0.607000													32	66					4.74835e-14	5.89082e-14	0.750413	1	0
ESX1	80712	broad.mit.edu	37	X	103495254	103495254	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chrX:103495254C>T	ENST00000372588.4	-	4	959	c.876G>A	c.(874-876)gcG>gcA	p.A292A		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	292	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GTGGCACAGGCGCCATGCGTG	0.746000													12	15					0	0	0.387290	0	0
TP53	7157	broad.mit.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:7579415C>T	ENST00000420246.2	-	4	404	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W91*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	91	Interaction with WWOX.		W -> C (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.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)		TGACAGGGGCCAGGAGGGGGC	0.632000		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)			81	17					0	0	0.870114	0	0
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627000													16	60					0	0	0.575678	0	0
PCDH10	57575	broad.mit.edu	37	4	134072873	134072873	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:134072873C>T	ENST00000264360.4	+	1	2404	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	526	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTACTTGTACGCCCTGCGCT	0.592000													18	52					0	0	0.557998	0	0
OR2T33	391195	broad.mit.edu	37	1	248436609	248436609	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:248436609G>T	ENST00000318021.2	-	1	529	c.508C>A	c.(508-510)Cac>Aac	p.H170N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCGATCTCGTGTGCACCACAA	0.557000													4	44					4.68919e-08	5.26338e-08	0.361761	1	0
ENTPD5	957	broad.mit.edu	37	14	74440651	74440651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:74440651C>T	ENST00000334696.6	-	12	1134	c.815G>A	c.(814-816)tGt>tAt	p.C272Y	ENTPD5_ENST00000557325.1_Missense_Mutation_p.C272Y	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	272					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TCTCGGTAAACAGGCACTCCG	0.488000													15	52					0	0	0.479597	0	0
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711000													6	25					0	0	0.411799	0	0
SRPK2	6733	broad.mit.edu	37	7	104808499	104808499	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:104808499G>A	ENST00000357311.3	-	4	520	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	SRPK2_ENST00000489828.1_Missense_Mutation_p.H117Y|SRPK2_ENST00000393651.3_Missense_Mutation_p.H128Y	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	117	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCCGTATAATGCTGGGCACTT	0.279000													14	27					0	0	0.500413	0	0
VPS35	55737	broad.mit.edu	37	16	46716023	46716023	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:46716023G>A	ENST00000299138.7	-	3	225	c.167C>T	c.(166-168)tCt>tTt	p.S56F		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	56					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGATAACATAGAAGTCCGGAG	0.338000													18	35					0	0	0.575678	0	0
PRKRA	8575	broad.mit.edu	37	2	179309173	179309173	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:179309173C>T	ENST00000325748.4	-	4	572	c.372G>A	c.(370-372)caG>caA	p.Q124Q	PRKRA_ENST00000487082.1_Silent_p.Q99Q|PRKRA_ENST00000438687.3_Silent_p.Q11Q|PRKRA_ENST00000432031.2_Silent_p.Q113Q	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	124	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TAGGATTAAGCTGGTTCTTTG	0.358000													24	31					0	0	0.740014	0	0
OPLAH	26873	broad.mit.edu	37	8	145108284	145108284	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:145108284G>T	ENST00000426825.1	-	20	2780	c.2699C>A	c.(2698-2700)gCc>gAc	p.A900D	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	900							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGCCCGCAGGGCCTCCGTCAC	0.647000													8	93					0.00621372	0.00648901	0.335167	1	0
MPDZ	8777	broad.mit.edu	37	9	13147652	13147652	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:13147652A>T	ENST00000319217.7	-	26	3883	c.3636T>A	c.(3634-3636)gaT>gaA	p.D1212E	MPDZ_ENST00000541718.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1212E|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1212E|MPDZ_ENST00000546205.1_Missense_Mutation_p.D1226E|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000538841.1_Missense_Mutation_p.D104E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1212	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGTCCATTCCATCCACCTGCA	0.428000													24	19					0	0	0.624587	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													14	10					0	0	0.500413	0	0
GPRC5B	51704	broad.mit.edu	37	16	19871833	19871833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:19871833G>A	ENST00000300571.2	-	4	1392	c.1201C>T	c.(1201-1203)Cac>Tac	p.H401Y	GPRC5B_ENST00000569847.1_Missense_Mutation_p.H401Y|GPRC5B_ENST00000569479.1_Missense_Mutation_p.H401Y|GPRC5B_ENST00000537135.1_Missense_Mutation_p.H427Y|GPRC5B_ENST00000535671.1_Intron	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	401										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACCAAAGGTGTCTTCCTGTG	0.443000													15	33					0	0	0.557998	0	0
CILP2	148113	broad.mit.edu	37	19	19655287	19655287	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:19655287G>A	ENST00000586018.1	+	8	2053	c.1951G>A	c.(1951-1953)Gtg>Atg	p.V651M	CILP2_ENST00000291495.4_Missense_Mutation_p.V645M			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	645						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CATGTTCTCCGTGGACCTCCG	0.731000													25	43					0	0	0.667858	0	0
ALG6	29929	broad.mit.edu	37	1	63879791	63879791	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:63879791G>T	ENST00000371108.4	+	10	1181	c.876G>T	c.(874-876)ttG>ttT	p.L292F	ALG6_ENST00000263440.4_Missense_Mutation_p.L294F	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	292					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGGATATTTTGCCACGTCACA	0.284000													19	45					3.62473e-10	4.33392e-10	0.608945	1	0
WDR11	55717	broad.mit.edu	37	10	122612036	122612036	+	Splice_Site	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr10:122612036G>A	ENST00000263461.6	+	2	333	c.86_splice	c.e2-1	p.W29_splice		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	29						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTTTTGCTAGGGGCTGGCAAG	0.363000													13	14					0	0	0.435327	0	0
DLG1	1739	broad.mit.edu	37	3	196865135	196865135	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:196865135A>C	ENST00000346964.2	-	10	1129	c.940T>G	c.(940-942)Tca>Gca	p.S314A	DLG1_ENST00000357674.4_Missense_Mutation_p.S281A|DLG1_ENST00000314062.3_Missense_Mutation_p.S263A|DLG1_ENST00000448528.2_Missense_Mutation_p.S314A|DLG1_ENST00000452595.1_Missense_Mutation_p.S198A|DLG1_ENST00000450955.1_Missense_Mutation_p.S281A|DLG1_ENST00000443183.1_Missense_Mutation_p.S198A|DLG1_ENST00000422288.1_Missense_Mutation_p.S263A|DLG1_ENST00000419354.1_Missense_Mutation_p.S314A|DLG1_ENST00000392382.2_Missense_Mutation_p.S281A	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	314					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATTTTTTCTGACACTGGTTTC	0.338000													69	44					0	0	0.870114	0	0
RHOJ	57381	broad.mit.edu	37	14	63671683	63671683	+	Silent	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:63671683G>C	ENST00000316754.3	+	1	558	c.96G>C	c.(94-96)gtG>gtC	p.V32V	RHOJ_ENST00000555125.1_Silent_p.V32V|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	32					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ACGGTGCCGTGGGGAAAACCT	0.547000													17	21					0	0	0.539581	0	0
UNC79	57578	broad.mit.edu	37	14	94158111	94158111	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:94158111T>C	ENST00000553484.1	+	48	7626	c.7472T>C	c.(7471-7473)aTg>aCg	p.M2491T	UNC79_ENST00000256339.4_Missense_Mutation_p.M2292T|UNC79_ENST00000393151.2_Missense_Mutation_p.M2469T|UNC79_ENST00000555664.1_Missense_Mutation_p.M2430T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2469						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGCTGCACATGTGCTCCCTC	0.532000													7	53					0	0	0.278610	0	0
GH2	2689	broad.mit.edu	37	17	61958159	61958159	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:61958159T>C	ENST00000332800.7	-	4	562	c.429A>G	c.(427-429)ctA>ctG	p.L143L	GH2_ENST00000456543.2_Silent_p.L143L|GH2_ENST00000449787.2_Silent_p.L128L|GH2_ENST00000423893.2_Silent_p.L143L	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	143						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGCCTTCCTCTAGGTCCTTCA	0.617000													39	71					0	0	0.827153	0	0
FAM101A	144347	broad.mit.edu	37	12	124799005	124799005	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:124799005C>T	ENST00000389727.3	+	3	585	c.585C>T	c.(583-585)acC>acT	p.T195T	FAM101A_ENST00000338359.4_Silent_p.T114T|FAM101A_ENST00000546355.1_Silent_p.T114T|FAM101A_ENST00000324038.3_Silent_p.T114T			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	195										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCTGGTTCACCGCCAGCGTGC	0.711000													4	12					0	0	0.307466	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42439928	42439928	+	Silent	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:42439928A>C	ENST00000397272.3	-	12	1189	c.1098T>G	c.(1096-1098)ggT>ggG	p.G366G	PLA2G4F_ENST00000382396.4_Silent_p.G364G	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	364	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.G364G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCGGGTTCCACCCCCGGAAC	0.547000													6	42					0	0	0.608945	0	0
FAT2	2196	broad.mit.edu	37	5	150924395	150924395	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr5:150924395T>C	ENST00000261800.5	-	9	6305	c.6293A>G	c.(6292-6294)gAc>gGc	p.D2098G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2098	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCCCCAAGTCCTCATCAGT	0.448000													49	18					0	0	0.870114	0	0
INTS5	80789	broad.mit.edu	37	11	62414590	62414590	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:62414590G>A	ENST00000330574.2	-	2	3014	c.2962C>T	c.(2962-2964)Ctg>Ttg	p.L988L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	988					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACACTGTGCAGCACAGCCAGA	0.602000													4	148					0	0	0.150653	0	0
PRKCG	5582	broad.mit.edu	37	19	54409991	54409991	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:54409991T>C	ENST00000263431.3	+	18	2218	c.1936T>C	c.(1936-1938)Ttc>Ctc	p.F646L	PRKCG_ENST00000540413.1_Missense_Mutation_p.F646L|PRKCG_ENST00000542049.1_Missense_Mutation_p.F497L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	646	AGC-kinase C-terminal.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CTTTGACAAGTTCTTCACGCG	0.647000											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	125					0	0	0.150653	0	0
CFH	3075	broad.mit.edu	37	1	196684815	196684815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:196684815G>T	ENST00000367429.4	+	11	1852	c.1612G>T	c.(1612-1614)Gat>Tat	p.D538Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	538	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAATGCCATGATGGTTATGA	0.378000													27	112					3.65163e-15	4.75909e-15	0.706142	1	0
CSMD2	114784	broad.mit.edu	37	1	34204867	34204867	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:34204867G>C	ENST00000373381.4	-	15	2418	c.2242C>G	c.(2242-2244)Cag>Gag	p.Q748E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	708	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGCCCAGCTGGAGGCTGTCC	0.572000													32	101					0	0	0.788014	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208842	65208842	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:65208842C>T	ENST00000247226.7	+	14	2747	c.2439C>T	c.(2437-2439)tcC>tcT	p.S813S	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Silent_p.S374S|PLEKHG3_ENST00000471182.2_Silent_p.S402S|PLEKHG3_ENST00000394691.1_Silent_p.S869S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	869					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGGAAAGCTCCTCTCCCACTG	0.652000													22	18					0	0	0.608945	0	0
ZNF536	9745	broad.mit.edu	37	19	31039034	31039034	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:31039034C>A	ENST00000355537.3	+	4	2655	c.2508C>A	c.(2506-2508)gaC>gaA	p.D836E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGGCCAGACATCCTGAGGG	0.582000													27	57					3.65163e-15	4.75909e-15	0.706142	1	0
MOGS	7841	broad.mit.edu	37	2	74689333	74689333	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:74689333G>T	ENST00000233616.4	-	4	1745	c.1583C>A	c.(1582-1584)cCt>cAt	p.P528H	MOGS_ENST00000452063.2_Missense_Mutation_p.P422H|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	528					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CAAGTCGTCAGGGTCACCAAC	0.597000													24	86					4.81078e-24	6.48232e-24	0.639603	1	0
STAC2	342667	broad.mit.edu	37	17	37369370	37369370	+	Silent	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:37369370G>T	ENST00000333461.5	-	10	1378	c.1009C>A	c.(1009-1011)Cgg>Agg	p.R337R		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	337	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						AAGCCAACCCGGTCGCCGATC	0.607000													28	32					1.77063e-15	2.34609e-15	0.693898	1	0
TRIM33	51592	broad.mit.edu	37	1	114964164	114964164	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:114964164T>A	ENST00000358465.2	-	11	2038	c.1955A>T	c.(1954-1956)aAt>aTt	p.N652I	TRIM33_ENST00000369543.2_Missense_Mutation_p.N652I|TRIM33_ENST00000450349.2_Missense_Mutation_p.N260I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	652					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGTTTGCATTTGCCATAGT	0.502000			T	RET	papillary thyroid								30	45					0	0	0.796494	0	0
NDUFB3	4709	broad.mit.edu	37	2	201943659	201943659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:201943659T>G	ENST00000237889.4	+	2	377	c.54T>G	c.(52-54)gaT>gaG	p.D18E	NDUFB3_ENST00000454214.1_Missense_Mutation_p.D18E|NDUFB3_ENST00000433898.1_Missense_Mutation_p.D18E	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	18					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	AACTTCCAGATTATAGACAAT	0.408000													4	49					0	0	0.150653	0	0
CRYBB3	1417	broad.mit.edu	37	22	25598707	25598707	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr22:25598707C>A	ENST00000215855.2	+	3	222	c.142C>A	c.(142-144)Ctg>Atg	p.L48M	CRYBB3_ENST00000404334.1_Missense_Mutation_p.L48M	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	48	Beta/gamma crystallin 'Greek key' 1.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GTGCCCCAGCCTGACCGACAG	0.602000											OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	34					9.62636e-23	1.28621e-22	0.624587	1	0
SSTR3	6753	broad.mit.edu	37	22	37603421	37603421	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr22:37603421C>T	ENST00000328544.3	-	2	955	c.422G>A	c.(421-423)cGc>cAc	p.R141H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R141H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	141					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GGCCAGGTAGCGGTCCACGCT	0.667000													61	71					0	0	0.870114	0	0
OR2T8	343172	broad.mit.edu	37	1	248084827	248084827	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:248084827C>A	ENST00000319968.4	+	1	508	c.508C>A	c.(508-510)Cac>Aac	p.H170N		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTGCGGTGCACACGAGATCGA	0.567000													3	24					3.07112e-06	3.48791e-06	0.387290	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	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													4	30					0	0	0.184627	0	0
PLCH1	23007	broad.mit.edu	37	3	155199435	155199435	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:155199435C>A	ENST00000460012.1	-	23	4647	c.4290G>T	c.(4288-4290)atG>atT	p.M1430I	PLCH1_ENST00000414191.1_Missense_Mutation_p.M1430I|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Missense_Mutation_p.M1468I|PLCH1_ENST00000334686.6_Missense_Mutation_p.M1430I|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1468					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGGGACATGCATATCTTGAG	0.473000													14	121					4.3838e-07	5.0509e-07	0.435327	1	0
TDRD6	221400	broad.mit.edu	37	6	46661854	46661854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr6:46661854G>T	ENST00000544460.1	+	1	6243	c.5989G>T	c.(5989-5991)Gag>Tag	p.E1997*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1997*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1997					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTTGTTCTCTGAGGAAGAAAG	0.318000													11	124					0.00244969	0.00263177	0.457914	1	0
ASPM	259266	broad.mit.edu	37	1	197111716	197111716	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:197111716T>C	ENST00000367409.4	-	3	1922	c.1666A>G	c.(1666-1668)Aag>Gag	p.K556E	ASPM_ENST00000294732.7_Missense_Mutation_p.K556E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	556					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTATAACTCTTAGATTTACTT	0.353000													42	54					0	0	0.840704	0	0
OR5B17	219965	broad.mit.edu	37	11	58125655	58125655	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:58125655C>A	ENST00000357377.3	-	1	887	c.888G>T	c.(886-888)aaG>aaT	p.K296N		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAATGCATTCTTCACGTCTT	0.368000													19	105					1.33834e-09	1.59997e-09	0.557998	1	0
ZNF500	26048	broad.mit.edu	37	16	4815844	4815844	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr16:4815844G>C	ENST00000219478.6	-	2	435	c.136C>G	c.(136-138)Cct>Gct	p.P46A	ZNF500_ENST00000545009.1_Missense_Mutation_p.P46A			O60304	ZN500_HUMAN	zinc finger protein 500	46					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAAGTCTCAGGGCTGGGGTCC	0.642000													14	46					0	0	0.457914	0	0
COL1A1	1277	broad.mit.edu	37	17	48273527	48273527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:48273527C>T	ENST00000225964.5	-	15	1109	c.991G>A	c.(991-993)Gcc>Acc	p.A331T		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	331	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGGGCCCGGCAGCACCAGTA	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						11	19					0	0	0.411799	0	0
SEC16B	89866	broad.mit.edu	37	1	177909817	177909817	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:177909817C>T	ENST00000308284.6	-	17	2144	c.2055G>A	c.(2053-2055)ctG>ctA	p.L685L	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	685					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTTCTAAAACCAGAGGATCTG	0.547000													7	26					0	0	0.307466	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			38	31					0	0	0.812448	0	0
PRKAA1	5562	broad.mit.edu	37	5	40777689	40777689	+	Splice_Site	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr5:40777689C>G	ENST00000397128.2	-	2	136		c.e2-1		PRKAA1_ENST00000296800.4_Splice_Site|PRKAA1_ENST00000354209.3_Splice_Site	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit						activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGTTTGCCAACTGTAAAAGAA	0.378000													36	14					0	0	0.788014	0	0
OLFM3	118427	broad.mit.edu	37	1	102269859	102269859	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:102269859T>C	ENST00000370103.4	-	6	1525	c.1312A>G	c.(1312-1314)Aat>Gat	p.N438D	OLFM3_ENST00000338858.5_Missense_Mutation_p.N458D|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	458	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGGTGGCCATTGTTCCAGGCA	0.418000													54	34					0	0	0.870114	0	0
OR2T33	391195	broad.mit.edu	37	1	248436609	248436609	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:248436609G>T	ENST00000318021.2	-	1	529	c.508C>A	c.(508-510)Cac>Aac	p.H170N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCGATCTCGTGTGCACCACAA	0.557000													4	44					4.68919e-08	5.4422e-08	0.361761	1	0
PHF20L1	51105	broad.mit.edu	37	8	133858165	133858165	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr8:133858165A>G	ENST00000395386.2	+	21	3350	c.3051A>G	c.(3049-3051)gtA>gtG	p.V1017V	PHF20L1_ENST00000395390.2_Silent_p.V992V|PHF20L1_ENST00000220847.7_Silent_p.V404V	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	1017							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTTGCTCTGTATGACAACAGT	0.388000													21	13					0	0	0.624587	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937602	4937602	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:4937602C>A	ENST00000512825.2	-	3	1593	c.182G>T	c.(181-183)gGt>gTt	p.G61V	SLC52A1_ENST00000424747.1_Missense_Mutation_p.G61V|SLC52A1_ENST00000254853.5_Missense_Mutation_p.G61V			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	61						integral to plasma membrane	receptor activity|riboflavin transporter activity										CACCAGCAGACCCAGGTTTCC	0.627000													30	54					4.34311e-12	5.52443e-12	0.779181	1	0
TTLL5	23093	broad.mit.edu	37	14	76286467	76286467	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:76286467C>G	ENST00000298832.9	+	28	3494	c.3289C>G	c.(3289-3291)Caa>Gaa	p.Q1097E	RP11-270M14.4_ENST00000556207.1_RNA|TTLL5_ENST00000557636.1_Missense_Mutation_p.Q1112E|TTLL5_ENST00000554510.1_Missense_Mutation_p.Q606E|TTLL5_ENST00000556893.1_Missense_Mutation_p.Q648E	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1097					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTCAGACCCCCAAGCTCCCGA	0.562000													14	36					0	0	0.500413	0	0
VCPIP1	80124	broad.mit.edu	37	8	67576729	67576729	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr8:67576729G>C	ENST00000310421.4	-	1	2723	c.2465C>G	c.(2464-2466)cCt>cGt	p.P822R		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	822					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTCTTTAGGAGGAAACCCGTA	0.383000													28	125					0	0	0.693898	0	0
CLIP1	6249	broad.mit.edu	37	12	122862371	122862371	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:122862371G>C	ENST00000358808.2	-	3	376	c.222C>G	c.(220-222)atC>atG	p.I74M	CLIP1_ENST00000302528.7_Missense_Mutation_p.I74M|CLIP1_ENST00000361654.4_Missense_Mutation_p.I74M|CLIP1_ENST00000540338.1_Missense_Mutation_p.I74M|CLIP1_ENST00000537178.1_Missense_Mutation_p.I74M	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	74					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CAAGAAACTGGATAAATCCAG	0.483000													124	53					0	0	0.870114	0	0
GXYLT1	283464	broad.mit.edu	37	12	42512903	42512903	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:42512903C>G	ENST00000398675.3	-	3	617	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	GXYLT1_ENST00000280876.6_Missense_Mutation_p.E98Q	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	129					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTCATAGTTTCTTCCAGTCTT	0.378000													17	81					0	0	0.520397	0	0
C2orf16	84226	broad.mit.edu	37	2	27804812	27804812	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:27804812C>T	ENST00000408964.2	+	1	5424	c.5373C>T	c.(5371-5373)caC>caT	p.H1791H	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1791	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAAGCCATCACAGTCCCTCTG	0.542000													27	150					0	0	0.693898	0	0
LPPR4	9890	broad.mit.edu	37	1	99772407	99772407	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:99772407C>T	ENST00000370185.3	+	7	2630	c.2133C>T	c.(2131-2133)agC>agT	p.S711S	LPPR4_ENST00000457765.1_Silent_p.S653S|LPPR4_ENST00000370184.1_Silent_p.S553S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		711							phosphatidate phosphatase activity	p.S711R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TAGAGGGCAGCGAAATTGGCT	0.522000													6	28					0	0	0.217242	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42864075	42864075	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:42864075C>A	ENST00000455697.1	-	3	504	c.219G>T	c.(217-219)ttG>ttT	p.L73F	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.L73F|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.L73F|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.L73F|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.L73F	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	73	PET.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTAACTGGTACAAAAGCTGTT	0.398000													9	47					0.000274275	0.000300757	0.307466	1	0
CYP4X1	260293	broad.mit.edu	37	1	47515807	47515807	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:47515807T>G	ENST00000371901.3	+	12	1741	c.1491T>G	c.(1489-1491)aaT>aaG	p.N497K	CYP4X1_ENST00000538609.1_Missense_Mutation_p.N496K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	497						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGCCCAAGAATGGGATGTATT	0.408000													19	116					0	0	0.557998	0	0
CSMD1	64478	broad.mit.edu	37	8	2820154	2820154	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr8:2820154G>A	ENST00000602557.1	-	62	10020	c.9465C>T	c.(9463-9465)ttC>ttT	p.F3155F	CSMD1_ENST00000602723.1_Silent_p.F2978F|CSMD1_ENST00000400186.3_Silent_p.F2978F|CSMD1_ENST00000542608.1_Silent_p.F2977F|CSMD1_ENST00000537824.1_Silent_p.F3154F|CSMD1_ENST00000520002.1_Silent_p.F3155F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3155	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTCTCCGCAGAACACAGCTA	0.463000													3	14					0	0	0.115264	0	0
C7orf25	79020	broad.mit.edu	37	7	42949873	42949873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:42949873C>G	ENST00000350427.4	-	2	902	c.627G>C	c.(625-627)gaG>gaC	p.E209D	C7orf25_ENST00000438029.1_Missense_Mutation_p.E209D|C7orf25_ENST00000431882.2_Missense_Mutation_p.E267D|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.E209D			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	209										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTGATTCACTCTCACTTGGTT	0.458000													27	25					0	0	0.693898	0	0
OCA2	4948	broad.mit.edu	37	15	28326955	28326955	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr15:28326955C>T	ENST00000354638.3	-	2	221	c.66G>A	c.(64-66)acG>acA	p.T22T	OCA2_ENST00000353809.5_Silent_p.T22T|OCA2_ENST00000382996.2_Silent_p.T22T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	22					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGGGCACGGACGTCTGCAGGA	0.701000									Oculocutaneous Albinism				17	9					0	0	0.520397	0	0
CEP112	201134	broad.mit.edu	37	17	63898393	63898393	+	Silent	SNP	G	G	A	rs140758713		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:63898393G>A	ENST00000392769.2	-	20	2258	c.2040C>T	c.(2038-2040)aaC>aaT	p.N680N	CEP112_ENST00000535342.2_Silent_p.N680N|CEP112_ENST00000541355.1_Silent_p.N315N|CEP112_ENST00000537949.1_Silent_p.N638N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	680						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CCTTCTCTGCGTTATGCTGCT	0.463000													22	35					0	0	0.639603	0	0
SNHG14	104472715	broad.mit.edu	37	15	25325297	25325297	+	RNA	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr15:25325297G>A	ENST00000549804.2	+	0	1377				SNORD116-14_ENST00000383894.1_RNA																							GTGGATCGATGATGACTTCCA	0.428000													46	48					0	0	0.870114	0	0
PROCA1	147011	broad.mit.edu	37	17	27031231	27031231	+	Splice_Site	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:27031231C>T	ENST00000301039.2	-	4	550		c.e4-1		PROCA1_ENST00000581289.1_Splice_Site|PROCA1_ENST00000439862.3_Splice_Site|PROCA1_ENST00000579650.1_Splice_Site	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1						lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GCTTTTGCACCTGGGAGAAGG	0.572000													20	79					0	0	0.608945	0	0
CUL3	8452	broad.mit.edu	37	2	225400286	225400286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:225400286G>A	ENST00000264414.4	-	3	675	c.337C>T	c.(337-339)Caa>Taa	p.Q113*	CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q89*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.Q47*|CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q89*	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	113					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATAGCTGTTTGATGATCATTC	0.333000													20	8					0	0	0.592651	0	0
CALCR	799	broad.mit.edu	37	7	93106945	93106945	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:93106945A>G	ENST00000359558.2	-	6	594	c.295T>C	c.(295-297)Tgc>Cgc	p.C99R	CALCR_ENST00000421592.1_Missense_Mutation_p.C81R|CALCR_ENST00000426151.1_Missense_Mutation_p.C81R|CALCR_ENST00000394441.1_Missense_Mutation_p.C81R|CALCR_ENST00000360249.4_Missense_Mutation_p.C81R	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	81					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCATCCCAGCACAGCCATCCA	0.418000													16	27					0	0	0.575678	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115525	220115525	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:220115525G>A	ENST00000392088.2	-	4	1406	c.851C>T	c.(850-852)gCc>gTc	p.A284V	TUBA4A_ENST00000248437.4_Missense_Mutation_p.A299V|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	299					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCTGGTTGGCAGGCTCAAA	0.572000													18	83					0	0	0.539581	0	0
MACF1	23499	broad.mit.edu	37	1	39833905	39833905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:39833905C>T	ENST00000564288.1	+	50	13634	c.12857C>T	c.(12856-12858)gCg>gTg	p.A4286V	MACF1_ENST00000317713.7_Missense_Mutation_p.A2224V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.A2726V|MACF1_ENST00000361689.2_Missense_Mutation_p.A2224V|MACF1_ENST00000567887.1_Missense_Mutation_p.A4323V|MACF1_ENST00000372915.3_Missense_Mutation_p.A4291V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2224V|MACF1_ENST00000539005.1_Missense_Mutation_p.A2224V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4291					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGGCTTTGCGCTGGACTTG	0.453000													31	48					0	0	0.779181	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987418	50987418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr22:50987418C>T	ENST00000395676.2	+	1	957	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	275										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCAGCCTGCGGACCGGCCG	0.746000													10	5					0	0	0.361761	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869581	151869581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chrX:151869581G>A	ENST00000329342.5	+	3	496	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	91							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAACCAAGAAGAGGAGGG	0.557000													14	27					0	0	0.457914	0	0
RASGRF1	5923	broad.mit.edu	37	15	79294032	79294032	+	Silent	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr15:79294032G>T	ENST00000419573.3	-	17	2869	c.2595C>A	c.(2593-2595)ccC>ccA	p.P865P	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P849P|RASGRF1_ENST00000394745.3_Silent_p.P81P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	867					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGACTGATTTGGGTGTTGTTG	0.408000													24	93					2.48779e-11	3.13936e-11	0.693898	1	0
CCT7	10574	broad.mit.edu	37	2	73470213	73470213	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:73470213C>T	ENST00000539919.1	+	5	588	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	CCT7_ENST00000258091.5_Missense_Mutation_p.H117Y|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.H30Y|CCT7_ENST00000538797.1_Silent_p.Y6Y|CCT7_ENST00000537131.1_Missense_Mutation_p.H17Y	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	117					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GGAAGGTTTACACCCCCAGAT	0.517000													6	74					0	0	0.217242	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364532	142364532	+	RNA	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:142364532A>G	ENST00000390397.2	+	0	203																											TGGTATCGACAAGACCCAGGA	0.443000													8	20					0	0	0.278610	0	0
TNRC6C	57690	broad.mit.edu	37	17	76089205	76089205	+	Splice_Site	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:76089205G>C	ENST00000335749.4	+	15	4722	c.4153_splice	c.e15+1	p.E1385_splice	TNRC6C_ENST00000588061.1_Splice_Site_p.E1388_splice|TNRC6C_ENST00000301624.4_Splice_Site_p.E1388_splice|TNRC6C_ENST00000588847.1_Splice_Site_p.E1385_splice|TNRC6C_ENST00000541771.1_Splice_Site_p.E1388_splice|TNRC6C_ENST00000544502.1_Splice_Site_p.E1385_splice	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1388	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGGCCCCCAGGTAAGACCAT	0.522000													10	13					0	0	0.361761	0	0
VAPA	9218	broad.mit.edu	37	18	9944946	9944946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr18:9944946C>T	ENST00000340541.4	+	5	638	c.443C>T	c.(442-444)cCg>cTg	p.P148L	VAPA_ENST00000584796.1_Intron|VAPA_ENST00000400000.2_Intron			Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	139					cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						GGGAATGCTCCGACTGTCACT	0.473000													15	27					0	0	0.457914	0	0
ANKS6	203286	broad.mit.edu	37	9	101552738	101552738	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr9:101552738C>A	ENST00000353234.4	-	2	557	c.510G>T	c.(508-510)gtG>gtT	p.V170V	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Silent_p.V170V|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	170										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGTGATGGTCCACAAAGGCAC	0.652000													8	11					0.00307968	0.00328637	0.278610	1	0
SLC25A3	5250	broad.mit.edu	37	12	98987764	98987764	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:98987764C>G	ENST00000188376.5	+	1	362	c.8C>G	c.(7-9)tCg>tGg	p.S3W	SLC25A3_ENST00000547534.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000228318.3_Missense_Mutation_p.S3W|SLC25A3_ENST00000552981.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000551265.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000551917.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000401722.3_Missense_Mutation_p.S3W|SLC25A3_ENST00000549338.1_Missense_Mutation_p.S3W|SLC25A3_ENST00000548847.1_Missense_Mutation_p.S3W	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	3					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AAGATGTTCTCGTCCGTGGCG	0.662000													11	29					0	0	0.457914	0	0
RNF213	57674	broad.mit.edu	37	17	78351573	78351573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:78351573G>A	ENST00000582970.1	+	54	13665	c.13522G>A	c.(13522-13524)Ggc>Agc	p.G4508S	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S|RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGTCCCAACGGCCATCCTTG	0.532000													68	106					0	0	0.870114	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717063	13717063	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:13717063C>T	ENST00000279593.3	-	13	3318	c.3109G>A	c.(3109-3111)Gac>Aac	p.D1037N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1037					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGTACAGGTCACTGAGCTGG	0.582000													25	16					0	0	0.681144	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256533	69256533	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:69256533T>A	ENST00000439696.2	-	2	1035	c.734A>T	c.(733-735)gAt>gTt	p.D245V	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D245V|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	245					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTGGTGCCATCGGGCAGGGT	0.672000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	80	111					0	0	0.870114	0	0
PLCB3	5331	broad.mit.edu	37	11	64033990	64033990	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:64033990G>C	ENST00000540288.1	+	29	3483	c.3380G>C	c.(3379-3381)cGg>cCg	p.R1127P	PLCB3_ENST00000325234.5_Missense_Mutation_p.R1060P|PLCB3_ENST00000279230.6_Missense_Mutation_p.R1127P	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1127					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ATTAACCGTCGGCACATCACT	0.637000													7	42					0	0	0.278610	0	0
KLF15	28999	broad.mit.edu	37	3	126071260	126071260	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:126071260G>A	ENST00000296233.3	-	2	736	c.506C>T	c.(505-507)gCc>gTc	p.A169V		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	169						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CTGGCTGCAGGCATCCAAGTC	0.612000													25	22					0	0	0.654019	0	0
ANKRD26	22852	broad.mit.edu	37	10	27352931	27352931	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr10:27352931T>C	ENST00000376087.4	-	12	1514	c.1349A>G	c.(1348-1350)aAt>aGt	p.N450S	ANKRD26_ENST00000436985.2_Missense_Mutation_p.N499S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	450						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGCTTGTTCATTTCCTATATT	0.323000													21	15					0	0	0.654019	0	0
GPR27	2850	broad.mit.edu	37	3	71804252	71804252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:71804252C>T	ENST00000304411.2	+	1	1052	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	351						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGCTTCAGGGCCCAGTTCCCC	0.657000													9	5					0	0	0.307466	0	0
WNT3	7473	broad.mit.edu	37	17	44845973	44845973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:44845973C>G	ENST00000225512.5	-	4	943	c.781G>C	c.(781-783)Gcc>Ccc	p.A261P		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	261					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAGTACTTGGCCCGGAGGGTC	0.592000													51	60					0	0	0.870114	0	0
SSPO	23145	broad.mit.edu	37	7	149480698	149480698	+	RNA	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:149480698T>C	ENST00000378016.2	+	0	2404							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGTGCTGTCTGCCTATGC	0.637000													37	82					0	0	0.812448	0	0
OR11L1	391189	broad.mit.edu	37	1	248004560	248004560	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:248004560C>A	ENST00000355784.2	-	1	694	c.639G>T	c.(637-639)ctG>ctT	p.L213L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCCCAGTGTCAGAAAAAAAC	0.507000													28	39					1.16021e-09	1.40819e-09	0.717897	1	0
MUC6	4588	broad.mit.edu	37	11	1016020	1016020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:1016020C>T	ENST00000421673.2	-	31	6831	c.6781G>A	c.(6781-6783)Gcc>Acc	p.A2261T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2261	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGCAGGGGCGGTGTGGGTG	0.627000													37	162					0	0	0.840704	0	0
ATAD5	79915	broad.mit.edu	37	17	29162894	29162894	+	Silent	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:29162894A>C	ENST00000321990.4	+	2	2173	c.1795A>C	c.(1795-1797)Aga>Cga	p.R599R	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	599					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGATCTGGAAGAATTAGCAG	0.398000													24	87					0	0	0.693898	0	0
PRB1	5542	broad.mit.edu	37	12	11508453	11508453	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:11508453G>T	ENST00000500254.2	-	1	72	c.35C>A	c.(34-36)gCc>gAc	p.A12D	PRB1_ENST00000545626.1_Missense_Mutation_p.A12D|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	12						extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGAGCTCAGGGCCAGCAAGGC	0.502000													6	45					5.18039e-06	5.84172e-06	0.278610	1	0
OR5H2	79310	broad.mit.edu	37	3	98002139	98002139	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:98002139A>G	ENST00000355273.2	+	1	408	c.408A>G	c.(406-408)ctA>ctG	p.L136L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AACCTTTACTATATCCAGTGA	0.368000													22	76					0	0	0.654019	0	0
DDB1	1642	broad.mit.edu	37	11	61070101	61070101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:61070101G>A	ENST00000301764.7	-	24	3462	c.3065C>T	c.(3064-3066)aCc>aTc	p.T1022I	DDB1_ENST00000450997.2_Missense_Mutation_p.T333I|DDB1_ENST00000538470.1_Missense_Mutation_p.T69I|DDB1_ENST00000451943.2_Missense_Mutation_p.T9I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1022	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TTGTGTGGGGGTGGAAGTCTC	0.582000								Nucleotide excision repair (NER)					90	117					0	0	0.870114	0	0
MALAT1	378938	broad.mit.edu	37	11	65273243	65273243	+	RNA	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:65273243A>G	ENST00000534336.1	+	0	8011					NR_002819.2																						AAGTAGCTCTATTATAATACT	0.373000													21	43					0	0	0.639603	0	0
PFKFB2	5208	broad.mit.edu	37	1	207242833	207242833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:207242833G>A	ENST00000367080.3	+	11	1176	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000541914.1_Missense_Mutation_p.R165Q|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R253Q|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R351Q|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R318Q	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	351	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TTTGCACTTCGAGATCAAGAG	0.458000													14	67					0	0	0.479597	0	0
FLG	2312	broad.mit.edu	37	1	152283935	152283935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:152283935C>A	ENST00000368799.1	-	3	3462	c.3427G>T	c.(3427-3429)Gga>Tga	p.G1143*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1143	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGGATCCTTGTCTTCGT	0.592000									Ichthyosis				12	285					1.05317e-09	1.28811e-09	0.457914	1	0
ZNF431	170959	broad.mit.edu	37	19	21365730	21365730	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:21365730A>G	ENST00000311048.7	+	5	768	c.624A>G	c.(622-624)aaA>aaG	p.K208K	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AATGTAAAAAATGTGGCAAAT	0.284000													12	32					0	0	0.411799	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092702	79092702	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr15:79092702G>A	ENST00000388820.4	-	2	498	c.288C>T	c.(286-288)acC>acT	p.T96T	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	96					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCTGATTGGCGGTCAGGTTGA	0.731000													4	6					0	0	0.217242	0	0
TPH2	121278	broad.mit.edu	37	12	72416243	72416243	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:72416243C>A	ENST00000333850.3	+	9	1274	c.1133C>A	c.(1132-1134)gCa>gAa	p.A378E		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	378					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCATATGGAGCAGGACTCCTT	0.428000													16	55					1.33834e-09	1.59997e-09	0.557998	1	0
TXK	7294	broad.mit.edu	37	4	48096214	48096214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr4:48096214C>A	ENST00000264316.4	-	8	674	c.589G>T	c.(589-591)Gag>Tag	p.E197*	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	197	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ATGGCAGCCTCCGTACTTCTA	0.368000													4	30					0.00909568	0.00951456	0.150653	1	0
CILP	8483	broad.mit.edu	37	15	65491100	65491100	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr15:65491100G>A	ENST00000261883.4	-	9	1690	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	508					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTACACATGGCCAAAGCGCA	0.597000													4	37					0	0	0.150653	0	0
JAG1	182	broad.mit.edu	37	20	10639359	10639359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr20:10639359T>C	ENST00000254958.5	-	4	966	c.451A>G	c.(451-453)Att>Gtt	p.I151V	JAG1_ENST00000423891.2_5'UTR	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	151					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTTTCAATAATACTGTCAGGT	0.448000									Alagille Syndrome				16	80					0	0	0.557998	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882508	43882508	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr10:43882508T>C	ENST00000443950.2	-	3	1311	c.825A>G	c.(823-825)agA>agG	p.R275R	HNRNPF_ENST00000337970.3_Silent_p.R275R|HNRNPF_ENST00000356053.3_Silent_p.R275R|HNRNPF_ENST00000544000.1_Silent_p.R275R|HNRNPF_ENST00000357065.4_Silent_p.R275R	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	275					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TGTCGCCGTATCTGTGGTCAT	0.557000													19	16					0	0	0.557998	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379827	145379827	+	Silent	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr5:145379827C>G	ENST00000511217.1	+	2	637	c.585C>G	c.(583-585)ctC>ctG	p.L195L	SH3RF2_ENST00000359120.4_Silent_p.L195L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	195	SH3 2.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGGCCCTCTACAACTTCG	0.602000													14	11					0	0	0.479597	0	0
NLGN1	22871	broad.mit.edu	37	3	173998976	173998976	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:173998976C>T	ENST00000457714.1	+	7	2784	c.2355C>T	c.(2353-2355)ccC>ccT	p.P785P	NLGN1_ENST00000545397.1_Silent_p.P785P|NLGN1_ENST00000361589.4_Silent_p.P785P|NLGN1_ENST00000401917.3_Silent_p.P825P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	802					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAATGATTCCCAACACTATAC	0.483000													18	77					0	0	0.520397	0	0
ANKS6	203286	broad.mit.edu	37	9	101552737	101552737	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr9:101552737C>A	ENST00000353234.4	-	2	558	c.511G>T	c.(511-513)Gac>Tac	p.D171Y	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000375018.1_Missense_Mutation_p.D171Y|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	171										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGGTGATGGTCCACAAAGGCA	0.652000													7	11					0.00198382	0.00214576	0.248553	1	0
TTN	7273	broad.mit.edu	37	2	179430729	179430729	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:179430729A>G	ENST00000589042.1	-	326	80354	c.80130T>C	c.(80128-80130)gaT>gaC	p.D26710D	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.D25069D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.D17770D|TTN_ENST00000342992.6_Silent_p.D24142D|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.D17837D|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.D17645D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25069							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)			TTGCCCCTCCATCAATGATGG	0.433000													33	132					0	0	0.740014	0	0
ADD2	119	broad.mit.edu	37	2	70901925	70901925	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:70901925G>A	ENST00000264436.3	-	14	2070	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D	ADD2_ENST00000355733.3_Silent_p.D542D|ADD2_ENST00000407644.2_Silent_p.D542D	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	542					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGGTATCCTCGTCTCCCTTGG	0.557000													46	30					0	0	0.870114	0	0
CNTN2	6900	broad.mit.edu	37	1	205038984	205038984	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:205038984C>T	ENST00000331830.4	+	18	2510	c.2226C>T	c.(2224-2226)gaC>gaT	p.D742D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	742	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAACGGAGACGGCTTCGGCT	0.667000													85	143					0	0	0.870114	0	0
CIT	11113	broad.mit.edu	37	12	120139472	120139472	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:120139472C>T	ENST00000392521.2	-	43	5554	c.5499G>A	c.(5497-5499)gtG>gtA	p.V1833V	CIT_ENST00000261833.7_Silent_p.V1791V|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1791	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGCGCTGTTCACCTGCACGA	0.562000													7	30					0	0	0.278610	0	0
PDE7A	5150	broad.mit.edu	37	8	66691976	66691976	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr8:66691976T>C	ENST00000401827.3	-	3	705	c.262A>G	c.(262-264)Att>Gtt	p.I88V	PDE7A_ENST00000379419.4_Missense_Mutation_p.I62V|PDE7A_ENST00000396642.3_Missense_Mutation_p.I88V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	88						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CGAAAATCAATATATGGGTGA	0.348000													20	139					0	0	0.592651	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52148741	52148741	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:52148741C>A	ENST00000360844.6	-	4	784	c.743G>T	c.(742-744)gGc>gTc	p.G248V	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'UTR|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	248	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGTGCCTGTGCCATTTCTGAA	0.552000													14	44					1.5842e-08	1.85212e-08	0.435327	1	0
HEPH	9843	broad.mit.edu	37	X	65393539	65393539	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chrX:65393539C>T	ENST00000519389.1	+	4	862	c.683C>T	c.(682-684)aCc>aTc	p.T228I	HEPH_ENST00000343002.2_Missense_Mutation_p.T174I|HEPH_ENST00000374727.3_Missense_Mutation_p.T177I|HEPH_ENST00000419594.1_Missense_Mutation_p.T177I|HEPH_ENST00000441993.2_Missense_Mutation_p.T177I|HEPH_ENST00000336279.5_5'UTR			Q9BQS7	HEPH_HUMAN	hephaestin	174	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATGCACCCACCGATGCTGAC	0.552000													5	9					0	0	0.217242	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790786	194790786	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:194790786C>T	ENST00000310380.6	-	4	948	c.840G>A	c.(838-840)ccG>ccA	p.P280P	XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000355729.4_Silent_p.P77P|XXYLT1_ENST00000356740.5_Silent_p.P74P|XXYLT1_ENST00000437101.1_Silent_p.P77P|XXYLT1_ENST00000429994.1_Silent_p.P134P	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	280						integral to membrane	transferase activity, transferring glycosyl groups										CCTCGGGGGGCGGGCCCCCAA	0.677000													22	87					0	0	0.608945	0	0
PAXIP1	22976	broad.mit.edu	37	7	154767472	154767472	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:154767472C>T	ENST00000404141.1	-	6	1162	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.R336R			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	336					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCCTCAGTGTCCGTACAGCTG	0.428000													20	17					0	0	0.592651	0	0
HLCS	3141	broad.mit.edu	37	21	38308946	38308946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr21:38308946C>T	ENST00000399120.1	-	5	2029	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	HLCS_ENST00000336648.3_Missense_Mutation_p.V267I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	267					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AAGTTCTGGACTGTCTTGTGC	0.572000													18	44					0	0	0.539581	0	0
USP46	64854	broad.mit.edu	37	4	53470719	53470719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr4:53470719C>T	ENST00000441222.2	-	6	854	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	USP46_ENST00000451218.2_Missense_Mutation_p.E197K|USP46_ENST00000508499.1_Missense_Mutation_p.E217K	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	224					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TATTTTTGTTCACTACACAGT	0.358000													21	13					0	0	0.624587	0	0
FBF1	85302	broad.mit.edu	37	17	73915827	73915827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:73915827G>A	ENST00000586717.1	-	19	2291	c.2018C>T	c.(2017-2019)aCg>aTg	p.T673M	FBF1_ENST00000319129.5_Missense_Mutation_p.T672M|FBF1_ENST00000389570.4_Missense_Mutation_p.T673M			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	672										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GTGCTGGGCCGTAAGCTCAGC	0.667000													3	37					0	0	0.115264	0	0
ADAR	103	broad.mit.edu	37	1	154562371	154562371	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:154562371T>C	ENST00000368474.4	-	8	2729	c.2530A>G	c.(2530-2532)Ata>Gta	p.I844V	ADAR_ENST00000368471.3_Missense_Mutation_p.I549V|ADAR_ENST00000292205.5_Missense_Mutation_p.I887V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	844					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AGCATGGCTATCTGGTCATGG	0.552000													22	16					0	0	0.667858	0	0
MICAL2	9645	broad.mit.edu	37	11	12241956	12241956	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:12241956G>T	ENST00000256194.4	+	9	1445	c.1157G>T	c.(1156-1158)cGg>cTg	p.R386L	MICAL2_ENST00000527546.1_Missense_Mutation_p.R386L|MICAL2_ENST00000379612.3_Missense_Mutation_p.R386L|MICAL2_ENST00000342902.5_Missense_Mutation_p.R386L|MICAL2_ENST00000537344.1_Missense_Mutation_p.R386L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	386						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTGCGGGAGCGGCAGGCGCAC	0.592000													3	64					0.115264	0.117481	0.115264	1	0
MED13	9969	broad.mit.edu	37	17	60087936	60087936	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:60087936G>T	ENST00000397786.2	-	9	2018	c.1942C>A	c.(1942-1944)Cag>Aag	p.Q648K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	648					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACACTTTCCTGTCCAAAAGGT	0.348000													8	38					1.12685e-05	1.25293e-05	0.307466	1	0
ORC2	4999	broad.mit.edu	37	2	201798644	201798644	+	Silent	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:201798644G>C	ENST00000234296.2	-	10	1011	c.762C>G	c.(760-762)acC>acG	p.T254T		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	254					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TTCTATCAGAGGTTAAAACTT	0.343000													8	84					0	0	0.278610	0	0
NBPF1	55672	broad.mit.edu	37	1	16902841	16902841	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:16902841C>A	ENST00000430580.2	-	19	2927	c.2040G>T	c.(2038-2040)aaG>aaT	p.K680N	NBPF1_ENST00000432949.1_Missense_Mutation_p.K138N|NBPF1_ENST00000287968.8_Missense_Mutation_p.K45N	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	680						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)		GCCCCTGGGACTTGTCTGGCT	0.582000													18	653					3.01185e-09	3.57376e-09	0.667858	1	0
UGT2A3	79799	broad.mit.edu	37	4	69796456	69796456	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr4:69796456G>C	ENST00000251566.4	-	5	1142	c.1112C>G	c.(1111-1113)aCt>aGt	p.T371S	UGT2A3_ENST00000420231.2_Missense_Mutation_p.T82S	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	371						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCACCATGAGTGATAAAAGC	0.358000													11	5					0	0	0.411799	0	0
DNAH9	1770	broad.mit.edu	37	17	11660996	11660996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:11660996A>G	ENST00000262442.3	+	35	7050	c.6982A>G	c.(6982-6984)Aca>Gca	p.T2328A	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2328A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2328	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCTAGACACACTCAGAAC	0.468000													20	15					0	0	0.608945	0	0
TXK	7294	broad.mit.edu	37	4	48096215	48096215	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr4:48096215C>A	ENST00000264316.4	-	8	673	c.588G>T	c.(586-588)acG>acT	p.T196T	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	196	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TGGCAGCCTCCGTACTTCTAC	0.373000													4	30					0.00909568	0.00951456	0.150653	1	0
ZBTB18	10472	broad.mit.edu	37	1	244217113	244217113	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:244217113C>G	ENST00000358704.4	+	2	186	c.37C>G	c.(37-39)Cca>Gca	p.P13A		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		TATGGAGTTTCCAGACCATAG	0.473000													3	44					0	0	0.150653	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660784	233660784	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:233660784A>G	ENST00000373566.3	+	15	1755	c.1558A>G	c.(1558-1560)Atg>Gtg	p.M520V	GIGYF2_ENST00000373563.4_Missense_Mutation_p.M498V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.M519V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.M498V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.M492V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.M520V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M329V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	498					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCTGAGAAAATGGTGGCTTA	0.383000													14	64					0	0	0.479597	0	0
GAREM	64762	broad.mit.edu	37	18	29848299	29848299	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr18:29848299G>A	ENST00000399218.4	-	6	2218	c.2163C>T	c.(2161-2163)tgC>tgT	p.C721C	GAREM_ENST00000269209.6_Silent_p.C722C	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		GTAAGGCAGGGCATGACGTAC	0.532000													13	72					0	0	0.457914	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458369	45458369	+	RNA	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:45458369C>A	ENST00000548424.1	+	0	448																											GGTGGGGTCACTGTTCCAAGG	0.532000													10	6					9.70103e-10	1.19571e-09	0.361761	1	0
THBS1	7057	broad.mit.edu	37	15	39884807	39884807	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr15:39884807C>G	ENST00000260356.5	+	17	2736	c.2571C>G	c.(2569-2571)gaC>gaG	p.D857E		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	857					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ATACCTGTGACAACAATCAGG	0.443000													4	5					0	0	0.184627	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414710	213414710	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:213414710C>G	ENST00000366960.3	+	11	2041	c.1891C>G	c.(1891-1893)Cca>Gca	p.P631A	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.P334A|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P419A|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P619A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	631					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACCTTTGAAACCATTCTTTAC	0.403000													25	43					0	0	0.654019	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762231	92762231	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:92762231C>A	ENST00000318238.4	-	5	4270	c.3054G>T	c.(3052-3054)gaG>gaT	p.E1018D	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1018D|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1018D	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1018										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAATAAATTCTCTTCTAATA	0.363000													22	55					5.35356e-11	6.70249e-11	0.639603	1	0
ZNF534	147658	broad.mit.edu	37	19	52941671	52941671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:52941671C>A	ENST00000332323.6	+	4	1058	c.997C>A	c.(997-999)Cat>Aat	p.H333N	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H320N|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCTTGTAATCCATACTGGAGA	0.418000													11	10					0.000978159	0.00106526	0.387290	1	0
SPDYE3	441272	broad.mit.edu	37	7	99917380	99917380	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:99917380C>A	ENST00000332397.6	+	9	1723	c.1539C>A	c.(1537-1539)ttC>ttA	p.F513L	SPDYE3_ENST00000437326.2_Missense_Mutation_p.F136L	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	513										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGTTCCAGTTCTTCTGTTCCA	0.607000													32	66					4.74835e-14	6.13812e-14	0.750413	1	0
TP53	7157	broad.mit.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:7579415C>T	ENST00000420246.2	-	4	404	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	91	Interaction with WWOX.		W -> C (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.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)		TGACAGGGGCCAGGAGGGGGC	0.632000		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)			81	17					0	0	0.870114	0	0
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627000													16	60					0	0	0.575678	0	0
PCDH10	57575	broad.mit.edu	37	4	134072873	134072873	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr4:134072873C>T	ENST00000264360.4	+	1	2404	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	526	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTACTTGTACGCCCTGCGCT	0.592000													18	52					0	0	0.557998	0	0
ENTPD5	957	broad.mit.edu	37	14	74440651	74440651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:74440651C>T	ENST00000334696.6	-	12	1134	c.815G>A	c.(814-816)tGt>tAt	p.C272Y	ENTPD5_ENST00000557325.1_Missense_Mutation_p.C272Y	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	272					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TCTCGGTAAACAGGCACTCCG	0.488000													15	52					0	0	0.479597	0	0
SRPK2	6733	broad.mit.edu	37	7	104808499	104808499	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:104808499G>A	ENST00000357311.3	-	4	520	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	SRPK2_ENST00000489828.1_Missense_Mutation_p.H117Y|SRPK2_ENST00000393651.3_Missense_Mutation_p.H128Y	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	117	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCCGTATAATGCTGGGCACTT	0.279000													14	27					0	0	0.500413	0	0
VPS35	55737	broad.mit.edu	37	16	46716023	46716023	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr16:46716023G>A	ENST00000299138.7	-	3	225	c.167C>T	c.(166-168)tCt>tTt	p.S56F		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	56					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGATAACATAGAAGTCCGGAG	0.338000													18	35					0	0	0.575678	0	0
PRKRA	8575	broad.mit.edu	37	2	179309173	179309173	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:179309173C>T	ENST00000325748.4	-	4	572	c.372G>A	c.(370-372)caG>caA	p.Q124Q	PRKRA_ENST00000487082.1_Silent_p.Q99Q|PRKRA_ENST00000438687.3_Silent_p.Q11Q|PRKRA_ENST00000432031.2_Silent_p.Q113Q	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	124	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TAGGATTAAGCTGGTTCTTTG	0.358000													24	31					0	0	0.740014	0	0
OPLAH	26873	broad.mit.edu	37	8	145108284	145108284	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr8:145108284G>T	ENST00000426825.1	-	20	2780	c.2699C>A	c.(2698-2700)gCc>gAc	p.A900D	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	900							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGCCCGCAGGGCCTCCGTCAC	0.647000													8	93					0.00621372	0.00658654	0.335167	1	0
MPDZ	8777	broad.mit.edu	37	9	13147652	13147652	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr9:13147652A>T	ENST00000319217.7	-	26	3883	c.3636T>A	c.(3634-3636)gaT>gaA	p.D1212E	MPDZ_ENST00000546205.1_Missense_Mutation_p.D1226E|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1212E|MPDZ_ENST00000541718.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1212E|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1212E|MPDZ_ENST00000538841.1_Missense_Mutation_p.D104E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1212	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGTCCATTCCATCCACCTGCA	0.428000													24	19					0	0	0.624587	0	0
GPRC5B	51704	broad.mit.edu	37	16	19871833	19871833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr16:19871833G>A	ENST00000300571.2	-	4	1392	c.1201C>T	c.(1201-1203)Cac>Tac	p.H401Y	GPRC5B_ENST00000569479.1_Missense_Mutation_p.H401Y|GPRC5B_ENST00000537135.1_Missense_Mutation_p.H427Y|GPRC5B_ENST00000569847.1_Missense_Mutation_p.H401Y|GPRC5B_ENST00000535671.1_Intron	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	401										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACCAAAGGTGTCTTCCTGTG	0.443000													15	33					0	0	0.557998	0	0
CILP2	148113	broad.mit.edu	37	19	19655287	19655287	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:19655287G>A	ENST00000586018.1	+	8	2053	c.1951G>A	c.(1951-1953)Gtg>Atg	p.V651M	CILP2_ENST00000291495.4_Missense_Mutation_p.V645M			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	645						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CATGTTCTCCGTGGACCTCCG	0.731000													25	43					0	0	0.667858	0	0
ALG6	29929	broad.mit.edu	37	1	63879791	63879791	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:63879791G>T	ENST00000371108.4	+	10	1181	c.876G>T	c.(874-876)ttG>ttT	p.L292F	ALG6_ENST00000263440.4_Missense_Mutation_p.L294F	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	292					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGGATATTTTGCCACGTCACA	0.284000													19	45					3.62473e-10	4.5026e-10	0.608945	1	0
WDR11	55717	broad.mit.edu	37	10	122612036	122612036	+	Splice_Site	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr10:122612036G>A	ENST00000263461.6	+	2	333	c.86_splice	c.e2-1	p.W29_splice		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	29						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTTTTGCTAGGGGCTGGCAAG	0.363000													13	14					0	0	0.435327	0	0
DLG1	1739	broad.mit.edu	37	3	196865135	196865135	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:196865135A>C	ENST00000346964.2	-	10	1129	c.940T>G	c.(940-942)Tca>Gca	p.S314A	DLG1_ENST00000448528.2_Missense_Mutation_p.S314A|DLG1_ENST00000443183.1_Missense_Mutation_p.S198A|DLG1_ENST00000450955.1_Missense_Mutation_p.S281A|DLG1_ENST00000422288.1_Missense_Mutation_p.S263A|DLG1_ENST00000419354.1_Missense_Mutation_p.S314A|DLG1_ENST00000392382.2_Missense_Mutation_p.S281A|DLG1_ENST00000357674.4_Missense_Mutation_p.S281A|DLG1_ENST00000452595.1_Missense_Mutation_p.S198A|DLG1_ENST00000314062.3_Missense_Mutation_p.S263A	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	314					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATTTTTTCTGACACTGGTTTC	0.338000													69	44					0	0	0.870114	0	0
RHOJ	57381	broad.mit.edu	37	14	63671683	63671683	+	Silent	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:63671683G>C	ENST00000316754.3	+	1	558	c.96G>C	c.(94-96)gtG>gtC	p.V32V	RHOJ_ENST00000555125.1_Silent_p.V32V|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	32					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ACGGTGCCGTGGGGAAAACCT	0.547000													17	21					0	0	0.539581	0	0
UNC79	57578	broad.mit.edu	37	14	94158111	94158111	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:94158111T>C	ENST00000553484.1	+	48	7626	c.7472T>C	c.(7471-7473)aTg>aCg	p.M2491T	UNC79_ENST00000555664.1_Missense_Mutation_p.M2430T|UNC79_ENST00000256339.4_Missense_Mutation_p.M2292T|UNC79_ENST00000393151.2_Missense_Mutation_p.M2469T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2469						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGCTGCACATGTGCTCCCTC	0.532000													7	53					0	0	0.278610	0	0
GH2	2689	broad.mit.edu	37	17	61958159	61958159	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:61958159T>C	ENST00000332800.7	-	4	562	c.429A>G	c.(427-429)ctA>ctG	p.L143L	GH2_ENST00000449787.2_Silent_p.L128L|GH2_ENST00000423893.2_Silent_p.L143L|GH2_ENST00000456543.2_Silent_p.L143L	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	143						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGCCTTCCTCTAGGTCCTTCA	0.617000													39	71					0	0	0.827153	0	0
FAM101A	144347	broad.mit.edu	37	12	124799005	124799005	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:124799005C>T	ENST00000324038.3	+	3	585	c.342C>T	c.(340-342)acC>acT	p.T114T	FAM101A_ENST00000338359.4_Silent_p.T114T|FAM101A_ENST00000389727.3_Silent_p.T195T|FAM101A_ENST00000546355.1_Silent_p.T114T	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	195										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCTGGTTCACCGCCAGCGTGC	0.711000													4	12					0	0	0.307466	0	0
FAT2	2196	broad.mit.edu	37	5	150924395	150924395	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr5:150924395T>C	ENST00000261800.5	-	9	6305	c.6293A>G	c.(6292-6294)gAc>gGc	p.D2098G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2098	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCCCCAAGTCCTCATCAGT	0.448000													49	18					0	0	0.870114	0	0
INTS5	80789	broad.mit.edu	37	11	62414590	62414590	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:62414590G>A	ENST00000330574.2	-	2	3014	c.2962C>T	c.(2962-2964)Ctg>Ttg	p.L988L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	988					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACACTGTGCAGCACAGCCAGA	0.602000													4	148					0	0	0.150653	0	0
PRKCG	5582	broad.mit.edu	37	19	54409991	54409991	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:54409991T>C	ENST00000263431.3	+	18	2218	c.1936T>C	c.(1936-1938)Ttc>Ctc	p.F646L	PRKCG_ENST00000542049.1_Missense_Mutation_p.F497L|PRKCG_ENST00000540413.1_Missense_Mutation_p.F646L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	646	AGC-kinase C-terminal.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CTTTGACAAGTTCTTCACGCG	0.647000											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	125					0	0	0.150653	0	0
TET3	200424	broad.mit.edu	37	2	74274034	74274049	+	Frame_Shift_Del	DEL	GATCTCTCCCCAAGAG	GATCTCTCCCCAAGAG	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:74274034_74274049delGATCTCTCCCCAAGAG	ENST00000409262.3	+	1	585_600	c.585_600delGATCTCTCCCCAAGAG	c.(583-600)cafs	p.QISPQE195fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	195							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGTGCCCCAGATCTCTCCCCAAGAGGGCCTGCCCC	0.644													13	16	---	---	---	---					
PPP1R1C	151242	broad.mit.edu	37	2	182981993	182981993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:182981993delA	ENST00000409137.3	+	5	544	c.301delA	c.(301-303)atfs	p.N101fs	PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000280295.3_Frame_Shift_Del_p.N108fs|PPP1R1C_ENST00000452904.1_Frame_Shift_Del_p.N101fs|PPP1R1C_ENST00000409702.1_Frame_Shift_Del_p.N101fs	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	101					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			AGAAGGCACCAATGAAAGAGA	0.368													2	4	---	---	---	---					
ASTE1	28990	broad.mit.edu	37	3	130743569	130743570	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:130743569_130743570insG	ENST00000264992.3	-	3	1022_1023	c.581_582insC	c.(580-582)cgcfs	p.R194fs	ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R194fs	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	194					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AGCATTTGGCAGGGATATAGTT	0.396													34	84	---	---	---	---					
LINC01098	285501	broad.mit.edu	37	4	178897080	178897081	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:178897080_178897081insT	ENST00000507870.1	+	5	745_746	c.283_284insT	c.(283-285)tttfs	p.F95fs																	lung(8)|prostate(1)	9						TCTGAAGTATATTTTTTCTAAA	0.376													31	65	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs10592950		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr6:170871038_170871040delCAA	ENST00000392092.2	+	3	493_495	c.214_216delCAA	c.(214-216)del	p.Q95del	TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing.		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567													22	36	---	---	---	---					
POR	5447	broad.mit.edu	37	7	75614935	75614935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:75614935delG	ENST00000394893.1	+	13	1457	c.1437delG	c.(1435-1437)gtfs	p.V479fs	POR_ENST00000461988.1_Frame_Shift_Del_p.V479fs|POR_ENST00000439269.1_Frame_Shift_Del_p.V217fs|POR_ENST00000450476.1_Frame_Shift_Del_p.V378fs|POR_ENST00000419840.1_Frame_Shift_Del_p.V293fs|POR_ENST00000545601.1_Frame_Shift_Del_p.V287fs			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	476	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CGGTGGTTGTGGAGTACGAGA	0.697													2	4	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs35089393	by1000genomes	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggg>gg	p.GGCGGCGSGCA43del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691													31	7	---	---	---	---					
DTX4	23220	broad.mit.edu	37	11	58956754	58956755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:58956754_58956755insC	ENST00000227451.3	+	4	1221_1222	c.1117_1118insC	c.(1117-1119)caafs	p.Q373fs	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Frame_Shift_Ins_p.Q267fs	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	373					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCCAGGGGTTTCCAACACAAGC	0.554													2	4	---	---	---	---					
PTPRB	5787	broad.mit.edu	37	12	71029580	71029580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:71029580delA	ENST00000334414.6	-	2	366	c.322delT	c.(322-324)ctfs	p.S108fs	PTPRB_ENST00000551525.1_Frame_Shift_Del_p.S107fs|PTPRB_ENST00000550358.1_Frame_Shift_Del_p.S108fs|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAAAGAGAGAGGCATTTTCC	0.532													18	16	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312													7	14	---	---	---	---					
AE000661.37	0	broad.mit.edu	37	14	22933391	22933391	+	RNA	DEL	C	C	-	rs36090939		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:22933391delC	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA																							TTAGAAATGGCTAAGAAACCA	0.408													6	3	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23450638	23450639	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:23450638_23450639insC	ENST00000262713.2	-	1	1212_1213	c.837_838insG	c.(835-840)gataacfs	p.DN279fs	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.DN279fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	279	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										AAAGCTGTTAGCTCGTCCTGGT	0.713													15	7	---	---	---	---					
IGHV3-21	28444	broad.mit.edu	37	14	106691797	106691799	+	RNA	DEL	TAA	TAA	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:106691797_106691799delTAA	ENST00000390607.2	-	0	303_305																											GTAGTATATGTAACTACTACTAC	0.517													8	209	---	---	---	---					
CHRNB4	1143	broad.mit.edu	37	15	78917347	78917348	+	Frame_Shift_Ins	INS	-	-	G	rs143826466	by1000genomes	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:78917347_78917348insG	ENST00000412074.2	-	5	756_757	c.645_646insC	c.(643-648)acgccafs	p.P216fs	CHRNB4_ENST00000261751.3_3'UTR	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	0					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CGGCTGTGGCTGGTTTGATGGG	0.574													4	6	---	---	---	---					
PHOSPHO1	162466	broad.mit.edu	37	17	47302390	47302392	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:47302390_47302392delAGG	ENST00000413580.1	-	3	512_514	c.95_97delCCT	c.(94-99)tgc>t	p.SC32del	PHOSPHO1_ENST00000310544.4_Intron|PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	0					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ggagagcagcaggaggaggagga	0.700													3	3	---	---	---	---					
ZNF233	353355	broad.mit.edu	37	19	44778149	44778232	+	In_Frame_Del	DEL	CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	-	rs148651556	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:44778149_44778232delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	ENST00000391958.2	+	5	1463_1546	c.1336_1419delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	c.(1336-1419)del	p.HTGEKPYKCEVCDKGFSKASNLQAHQRI446del	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_In_Frame_Del_p.HTGEKPYKCEVCDKGFSKASNLQAHQRI428del	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CCAGAGAGTTCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATCCACACTGGAG	0.437													18	48	---	---	---	---					
PRNP	5621	broad.mit.edu	37	20	4680095	4680118	+	In_Frame_Del	DEL	CATGGTGGTGGCTGGGGACAGCCT	CATGGTGGTGGCTGGGGACAGCCT	-	rs138688873	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr20:4680095_4680118delCATGGTGGTGGCTGGGGACAGCCT	ENST00000379440.4	+	2	516_539	c.229_252delCATGGTGGTGGCTGGGGACAGCCT	c.(229-252)del	p.HGGGWGQP77del	PRNP_ENST00000430350.2_In_Frame_Del_p.HGGGWGQP77del	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	77	5 X 8 AA tandem repeats of P-H-G-G-G-W-G- Q.|Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	GGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTG	0.652													45	37	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28194930	28194931	+	In_Frame_Ins	INS	-	-	TGT			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:28194930_28194931insTGT	ENST00000302326.4	-	1	2555_2556	c.1601_1602insACA	c.(1600-1602)cca>cACAca	p.534_534P>HT		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	534	Poly-Gln.						binding	p.Q550_R551insQ(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgttgctgctg	0.649			T	ETV6	"""AML, meningioma"""								5	6	---	---	---	---					
TFAP2E	339488	broad.mit.edu	37	1	36039564	36039565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:36039564_36039565insC	ENST00000373235.3	+	2	272_273	c.64_65insC	c.(64-66)ccgfs	p.P22fs	RP4-728D4.2_ENST00000444348.1_RNA	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	22	Gln/Pro-rich (transactivation domain).					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGCCGGCGGGGCCCGCCTGTCG	0.733													3	5	---	---	---	---					
CTBS	1486	broad.mit.edu	37	1	85040025	85040033	+	In_Frame_Del	DEL	AGCAGCGCT	AGCAGCGCT	-	rs150466708	by1000genomes	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:85040025_85040033delAGCAGCGCT	ENST00000370630.4	-	1	114_122	c.66_74delAGCGCTGCT	c.(64-75)ctg>ct	p.LALL22del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	22						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		cagcagcgccagcagcgcTAGACCCGGGA	0.718													7	6	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs58327065		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.3	-	1	556_557	c.241_242insAGCAGC	c.(241-243)acc>AGCAGCacc	p.80_81insSS		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGATGCGGTGgctgctgctgc	0.698													3	5	---	---	---	---					
TET3	200424	broad.mit.edu	37	2	74274034	74274049	+	Frame_Shift_Del	DEL	GATCTCTCCCCAAGAG	GATCTCTCCCCAAGAG	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:74274034_74274049delGATCTCTCCCCAAGAG	ENST00000409262.3	+	1	585_600	c.585_600delGATCTCTCCCCAAGAG	c.(583-600)cafs	p.QISPQE195fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	195							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGTGCCCCAGATCTCTCCCCAAGAGGGCCTGCCCC	0.644													13	16	---	---	---	---					
PPP1R1C	151242	broad.mit.edu	37	2	182981993	182981993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr2:182981993delA	ENST00000409137.3	+	5	544	c.301delA	c.(301-303)atfs	p.N101fs	PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Frame_Shift_Del_p.N101fs|PPP1R1C_ENST00000409702.1_Frame_Shift_Del_p.N101fs|PPP1R1C_ENST00000280295.3_Frame_Shift_Del_p.N108fs	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	101					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			AGAAGGCACCAATGAAAGAGA	0.368													2	4	---	---	---	---					
ASTE1	28990	broad.mit.edu	37	3	130743569	130743570	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr3:130743569_130743570insG	ENST00000264992.3	-	3	1022_1023	c.581_582insC	c.(580-582)cgcfs	p.R194fs	ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R194fs	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	194					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AGCATTTGGCAGGGATATAGTT	0.396													34	84	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157100396	157100397	+	In_Frame_Ins	INS	-	-	CGC			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr6:157100396_157100397insCGC	ENST00000346085.5	+	1	1334_1335	c.1333_1334insCGC	c.(1333-1335)gcc>CGCgcc	p.444_445insR	ARID1B_ENST00000367148.1_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000350026.5_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000275248.4_In_Frame_Ins_p.386_387insR	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	444	Ala-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.P392_S393insP(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCCCCAGCGCGCCGCCGCCG	0.787													5	9	---	---	---	---					
POR	5447	broad.mit.edu	37	7	75614935	75614935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:75614935delG	ENST00000394893.1	+	13	1457	c.1437delG	c.(1435-1437)gtfs	p.V479fs	POR_ENST00000461988.1_Frame_Shift_Del_p.V479fs|POR_ENST00000419840.1_Frame_Shift_Del_p.V293fs|POR_ENST00000439269.1_Frame_Shift_Del_p.V217fs|POR_ENST00000450476.1_Frame_Shift_Del_p.V378fs|POR_ENST00000545601.1_Frame_Shift_Del_p.V287fs			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	476	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CGGTGGTTGTGGAGTACGAGA	0.697													2	4	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													2	4	---	---	---	---					
DTX4	23220	broad.mit.edu	37	11	58956754	58956755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr11:58956754_58956755insC	ENST00000227451.3	+	4	1221_1222	c.1117_1118insC	c.(1117-1119)caafs	p.Q373fs	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Frame_Shift_Ins_p.Q267fs	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	373					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCCAGGGGTTTCCAACACAAGC	0.554													2	4	---	---	---	---					
PTPRB	5787	broad.mit.edu	37	12	71029580	71029580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr12:71029580delA	ENST00000334414.6	-	2	366	c.322delT	c.(322-324)ctfs	p.S108fs	PTPRB_ENST00000551525.1_Frame_Shift_Del_p.S107fs|PTPRB_ENST00000550358.1_Frame_Shift_Del_p.S108fs|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAAAGAGAGAGGCATTTTCC	0.532													18	16	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23450638	23450639	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr14:23450638_23450639insC	ENST00000262713.2	-	1	1212_1213	c.837_838insG	c.(835-840)gataacfs	p.DN279fs	AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.DN279fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	279	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										AAAGCTGTTAGCTCGTCCTGGT	0.713													15	7	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													45	49	---	---	---	---					
CDH7	1005	broad.mit.edu	37	18	63547907	63547907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr18:63547907delG	ENST00000397968.2	+	12	2561	c.2135delG	c.(2134-2136)tgfs	p.W712fs	CDH7_ENST00000323011.3_Frame_Shift_Del_p.W712fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	712					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAATTTATTTGGGAAAGATTA	0.438													54	61	---	---	---	---					
ZNF233	353355	broad.mit.edu	37	19	44778149	44778232	+	In_Frame_Del	DEL	CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	-	rs148651556	byFrequency	TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0a719b-3c3a-4797-9ec5-90d3474da727	d99c24f9-3ac5-49c5-9323-3235c64f37ce	g.chr19:44778149_44778232delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	ENST00000391958.2	+	5	1463_1546	c.1336_1419delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	c.(1336-1419)del	p.HTGEKPYKCEVCDKGFSKASNLQAHQRI446del	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_In_Frame_Del_p.HTGEKPYKCEVCDKGFSKASNLQAHQRI428del	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CCAGAGAGTTCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATCCACACTGGAG	0.437													18	48	---	---	---	---