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
HECW1	23072	broad.mit.edu	37	7	43540839	43540839	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:43540839C>T	ENST00000395891.1	+	21	4154	c.3549C>T	c.(3547-3549)taC>taT	p.Y1183Y	HECW1_ENST00000453890.1_Silent_p.Y1149Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1183					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTATGTCCTACGTCCCCCTGC	0.438000													46	379					0	0	1	0	0
PCSK1N	27344	broad.mit.edu	37	X	48690597	48690597	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:48690597C>T	ENST00000218230.5	-	2	369	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	PCSK1N_ENST00000476838.1_Intron	NM_013271.2	NP_037403.1	Q9UHG2	PCSK1_HUMAN	proprotein convertase subtilisin/kexin type 1 inhibitor	90	ProSAAS(1-180) (By similarity).				neuropeptide signaling pathway	extracellular space|soluble fraction	receptor binding										GGCCCGCGCCCGCTCCTGACG	0.766000													3	40					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67576890	67576890	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:67576890C>T	ENST00000478722.1	+	14	2448	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	GPHN_ENST00000543237.1_Missense_Mutation_p.R456W|GPHN_ENST00000315266.5_Missense_Mutation_p.R410W|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.R379W	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	410	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ACAAGTCATGCGGGTTACAAC	0.453000			T	MLL	AL								7	542					0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68669707	68669707	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr5:68669707C>T	ENST00000509734.1	+	4	771	c.93C>T	c.(91-93)ggC>ggT	p.G31G	RAD17_ENST00000354868.5_Silent_p.G20G|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000354312.3_Silent_p.G20G|RAD17_ENST00000345306.6_Silent_p.G20G|RAD17_ENST00000305138.4_Silent_p.G20G|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000380774.3_Silent_p.G31G|RAD17_ENST00000361732.2_Silent_p.G20G|RAD17_ENST00000504177.1_Intron			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	31					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGTGTAGTGGCGTCTCTACTA	0.363000								Other conserved DNA damage response genes					47	324					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15673188	15673188	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:15673188G>A	ENST00000281171.4	+	10	2163	c.1833G>A	c.(1831-1833)gtG>gtA	p.V611V	PTPRO_ENST00000348962.2_Silent_p.V611V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	611						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTACCATGGTGACGTGGGGAG	0.483000													121	463					0	0	1	0	0
OCM	654231	broad.mit.edu	37	7	5923595	5923595	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:5923595C>T	ENST00000242104.5	+	3	361	c.269C>T	c.(268-270)gCg>gTg	p.A90V	OCM_ENST00000416608.1_Missense_Mutation_p.A90V	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	90	EF-hand 2.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		ATGGCTGCGGCGGATAATGAT	0.498000													7	129					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R850C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCTGGGGCGCAAACCAGGA	0.453000													8	647					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527000			T	MLL	ALL								5	211					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94405527	94405527	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:94405527T>G	ENST00000555019.1	-	8	1974	c.1544A>C	c.(1543-1545)cAc>cCc	p.H515P	ASB2_ENST00000315988.4_Missense_Mutation_p.H467P	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	467					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GGCCGGCGGGTGCGGGCCGTT	0.692000													9	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179643640	179643640	+	Missense_Mutation	SNP	G	G	A	rs144011561		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:179643640G>A	ENST00000589042.1	-	24	4393	c.4169C>T	c.(4168-4170)cCg>cTg	p.P1390L	TTN_ENST00000359218.5_Missense_Mutation_p.P1344L|TTN_ENST00000591111.1_Missense_Mutation_p.P1390L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P1344L|TTN_ENST00000342992.6_Missense_Mutation_p.P1390L|TTN_ENST00000360870.5_Missense_Mutation_p.P1390L|TTN_ENST00000460472.2_Missense_Mutation_p.P1344L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1390							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)			AATGTAAGTCGGAGCTCCAAG	0.388000													17	318					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46066374	46066374	+	Silent	SNP	A	A	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:46066374A>T	ENST00000349995.5	+	11	1288	c.1176A>T	c.(1174-1176)acA>acT	p.T392T	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	392					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CAAAACCAACATCAAAATTAG	0.353000													15	158					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413312	178413312	+	Missense_Mutation	SNP	G	G	A	rs61733863	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr5:178413312G>A	ENST00000231188.5	-	8	2121	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V	GRM6_ENST00000517717.1_Missense_Mutation_p.A648V|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	648					detection of visible light|visual perception	integral to plasma membrane		p.A648V(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCACAGACCGCGGCCCCAGG	0.642000													7	142					0	0	1	0	0
SVILP1	0	broad.mit.edu	37	10	30986357	30986357	+	RNA	SNP	T	T	C	rs117915096	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:30986357T>C	ENST00000435645.1	+	0	347																											CGGCGCTCAATAGTGGGGACT	0.552000													3	72					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													7	262					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													13	85					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211532923	211532923	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:211532923G>T	ENST00000233072.5	+	34	4212	c.4016G>T	c.(4015-4017)gGt>gTt	p.G1339V	CPS1_ENST00000451903.2_Missense_Mutation_p.G888V|CPS1_ENST00000430249.2_Missense_Mutation_p.G1345V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1339					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCTTGCTTTGGTGAAGGTATT	0.368000													26	366					2.44723e-14	2.63369e-14	1	1	0
TNFRSF10C	8794	broad.mit.edu	37	8	22960677	22960677	+	Missense_Mutation	SNP	G	G	A	rs147367612	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr8:22960677G>A	ENST00000356864.3	+	1	575	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	TNFRSF10C_ENST00000397703.2_Missense_Mutation_p.V55I|TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000520607.1_Intron	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	15					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CGTCGTCATCGTCGCGGTCCT	0.701000													6	60					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723522	49723522	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:49723522G>A	ENST00000449682.2	-	9	1481	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	360	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R360C(2)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTACAACGCCGGATCTGG	0.697000													7	115					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:1266085C>G	ENST00000447027.1	+	31	8042	c.7984C>G	c.(7984-7986)Ccc>Gcc	p.P2662A	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000													3	121					0	0	1	0	0
GOLGA2B	0	broad.mit.edu	37	12	100559710	100559710	+	RNA	SNP	T	T	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:100559710T>G	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						CAGAGGCTGGTGCCCGCCTTC	0.602000													9	70					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135813	156135813	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:156135813G>A	ENST00000329476.3	+	2	1211	c.722G>A	c.(721-723)cGc>cAc	p.R241H	NPY2R_ENST00000506608.1_Missense_Mutation_p.R241H	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	241					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TCCTACACTCGCATTTGGAGT	0.448000													8	344					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110031576	110031576	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:110031576G>A	ENST00000369870.3	+	7	906	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	297	SCA7.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTCCCAAGGAGAAGAGCCCAG	0.652000													12	268					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204589069	204589069	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:204589069C>T	ENST00000367175.1	-	1	2264	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	LRRN2_ENST00000367177.3_Missense_Mutation_p.A18T|LRRN2_ENST00000367176.3_Missense_Mutation_p.A18T|LRRN2_ENST00000496057.1_5'UTR			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	18					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCACAGCGGCAGTGGCACCA	0.647000													9	98					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:7578413C>G	ENST00000420246.2	-	5	649	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662000		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)			36	239					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509280	28509280	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:28509280G>A	ENST00000564831.1	+	2	2951	c.2918G>A	c.(2917-2919)gGc>gAc	p.G973D	APOBR_ENST00000431282.1_Missense_Mutation_p.G964D|APOBR_ENST00000328423.5_Missense_Mutation_p.G964D	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	964					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GAGGCCATGGGCAGTGCCAGA	0.672000													29	181					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80667060	80667060	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:80667060G>A	ENST00000299564.8	-	3	845	c.690C>T	c.(688-690)taC>taT	p.Y230Y	CDYL2_ENST00000562812.1_Silent_p.Y231Y|CDYL2_ENST00000563890.1_Silent_p.Y231Y|CDYL2_ENST00000566173.1_Silent_p.Y231Y	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	230						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TGTCAAAGACGTAGTCCTTCT	0.502000													22	650					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196387199	196387199	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:196387199C>T	ENST00000328557.4	+	3	888	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CACGCGGCTGCGGGTCCTCAA	0.647000													13	305					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30526969	30526969	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr20:30526969C>T	ENST00000375938.4	+	14	1396	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000535842.1_Silent_p.V381V|TTLL9_ENST00000375921.2_3'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	381					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAAGCGAGTCGGGGGCTTTG	0.577000													43	395					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													6	49					0.217242	0.219182	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.352_splice	c.e3-1	p.G118_splice		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118					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.G118D(26)		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)			TTTATTAAAGGTTTTGCTATC	0.338000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			35	228					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146207836	146207836	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:146207836C>T	ENST00000367503.3	-	30	5453	c.5055G>A	c.(5053-5055)gaG>gaA	p.E1685E	SHPRH_ENST00000275233.7_Silent_p.E1681E|SHPRH_ENST00000438092.2_Intron|SHPRH_ENST00000367505.2_Silent_p.E1681E	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1681					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCATTCAAGCTCTTCAGTTT	0.398000													6	215					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116812071	116812071	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:116812071G>T	ENST00000288466.7	+	14	2309	c.2210G>T	c.(2209-2211)tGt>tTt	p.C737F	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.C830F	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGCAAGGTCTGTGAGCTCATC	0.652000													57	251					4.96213e-28	5.55169e-28	1	1	0
YAP1	10413	broad.mit.edu	37	11	101984938	101984938	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:101984938C>T	ENST00000282441.5	+	2	773	c.385C>T	c.(385-387)Cca>Tca	p.P129S	YAP1_ENST00000526343.1_Missense_Mutation_p.P129S|YAP1_ENST00000345877.2_Missense_Mutation_p.P129S|YAP1_ENST00000531439.1_Missense_Mutation_p.P129S|YAP1_ENST00000537274.1_Missense_Mutation_p.P129S|YAP1_ENST00000524575.1_5'UTR	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Yes-associated protein 1	129					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TCATTCCTCTCCAGCTTCTCT	0.507000													10	295					0	0	1	0	0
CLCNKA	0	broad.mit.edu	37	1	16356526	16356526	+	Missense_Mutation	SNP	G	G	A	rs71587743		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:16356526G>A	ENST00000375692.1	+	15	1492	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G412E|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G455E|CLCNKA_ENST00000331433.4_Missense_Mutation_p.G455E			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	455					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATTGTGACTGGAGGGGTTACC	0.662000													15	298					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													5	169					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152469332	152469332	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:152469332G>A	ENST00000367255.5	-	137	25425	c.24824C>T	c.(24823-24825)cCg>cTg	p.P8275L	SYNE1_ENST00000448038.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000539504.1_Missense_Mutation_p.P430L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.P430L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P8275L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7887L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P2799L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8275					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACACTAGCCGGGGTGTCTCG	0.617000										HNSCC(10;0.0054)			6	253					0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77112307	77112307	+	Missense_Mutation	SNP	T	T	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:77112307T>A	ENST00000358075.6	-	5	777	c.691A>T	c.(691-693)Att>Ttt	p.I231F		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	199					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTCCACCAATAACAGCCAAA	0.363000													34	482					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716000													3	88					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82335639	82335639	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr15:82335639G>A	ENST00000329713.4	-	2	2007	c.1572C>T	c.(1570-1572)agC>agT	p.S524S	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	524					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CAATCACTTCGCTCTCGAAGC	0.637000													21	394					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54646728	54646728	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:54646728G>A	ENST00000406403.1	+	1	1617	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	5					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGGACAAGCGCAAACTCCAA	0.527000													8	536					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66454976	66454976	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:66454976G>A	ENST00000533211.1	-	35	6975	c.6644C>T	c.(6643-6645)cCa>cTa	p.P2215L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2215L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2215L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2215					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGGGCAGATGGCTCTGGGCC	0.667000													56	506					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179576918	179576918	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:179576918C>T	ENST00000589042.1	-	96	27863	c.27639G>A	c.(27637-27639)ccG>ccA	p.P9213P	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.P8896P|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.P7969P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8896	Ig-like 75.						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)			ACACCTTAACCGGCTCCAACT	0.443000													15	328					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6652947	6652947	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:6652947C>T	ENST00000299441.3	-	7	3986	c.3575G>A	c.(3574-3576)aGc>aAc	p.S1192N	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1192	Cadherin 11.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTGTGGTGCTGCGGGGTGG	0.617000													5	93					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58207947	58207947	+	Silent	SNP	G	G	A	rs141365699		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:58207947G>A	ENST00000537081.1	-	2	107	c.108C>T	c.(106-108)taC>taT	p.Y36Y	AVIL_ENST00000257861.3_Silent_p.Y43Y			O75366	AVIL_HUMAN	advillin	43	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGAGGATGACGTAGCAGTCCC	0.607000													8	111					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48372412	48372412	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:48372412C>T	ENST00000380518.3	-	42	3027	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K	COL2A1_ENST00000337299.6_Missense_Mutation_p.E886K|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	955	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCTCCCTTCTCGCCAGGGGGT	0.637000													24	241					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15673198	15673198	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:15673198G>C	ENST00000281171.4	+	10	2173	c.1843G>C	c.(1843-1845)Gat>Cat	p.D615H	PTPRO_ENST00000348962.2_Missense_Mutation_p.D615H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	615						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GACGTGGGGAGATCCAGAATT	0.478000													107	452					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													3	73					1	1	1	1	0
DYRK1B	9149	broad.mit.edu	37	19	40316442	40316442	+	Silent	SNP	T	T	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:40316442T>G	ENST00000593685.1	-	11	2271	c.1803A>C	c.(1801-1803)ccA>ccC	p.P601P	DYRK1B_ENST00000430012.2_Silent_p.P561P|DYRK1B_ENST00000597639.1_Silent_p.P573P|DYRK1B_ENST00000348817.3_Silent_p.P573P|DYRK1B_ENST00000323039.5_Silent_p.P601P			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	601					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCGGGAGGGGTGGACGACCTC	0.716000													8	55					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411981	43411981	+	Silent	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:43411981G>T	ENST00000187910.2	-	4	797	c.732C>A	c.(730-732)acC>acA	p.T244T	PSG6_ENST00000292125.2_Silent_p.T244T|PSG6_ENST00000402603.4_Intron	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGTTGTTGATGGTGATGTAAG	0.478000													89	905					4.01556e-35	4.53759e-35	1	1	0
BCOR	54880	broad.mit.edu	37	X	39933048	39933048	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:39933048G>A	ENST00000342274.4	-	4	1913	c.1551C>T	c.(1549-1551)aaC>aaT	p.N517N	BCOR_ENST00000397354.3_Silent_p.N517N|BCOR_ENST00000378444.4_Silent_p.N517N|BCOR_ENST00000378455.4_Silent_p.N517N	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	517					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.N517N(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTTCTCTTCGTTAGGACTTG	0.527000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						11	330					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2																						GCCCATCACCGCGACCATGGC	0.582000													4	257					0.014758	0.0151605	1	1	0
SVIP	258010	broad.mit.edu	37	11	22849412	22849412	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:22849412T>G	ENST00000354193.4	-	2	179	c.63A>C	c.(61-63)aaA>aaC	p.K21N	SVIP_ENST00000533774.1_5'UTR	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	21						Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						GCTTTGCTCTTTTCTCTTCCT	0.274000													12	221					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005706	42005706	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:42005706G>A	ENST00000395925.3	-	15	3049	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	989					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGTGGCGCCGCCCGTAGCCG	0.766000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				12	60					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28194933	28194933	+	Silent	SNP	T	T	C	rs34890218		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr22:28194933T>C	ENST00000302326.4	-	1	2553	c.1599A>G	c.(1597-1599)caA>caG	p.Q533Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.						binding			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						gctgctgctgttgctgctgct	0.652000			T	ETV6	"""AML, meningioma"""								3	43					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673951	20673951	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:20673951C>T	ENST00000525748.1	+	15	2460	c.2187C>T	c.(2185-2187)atC>atT	p.I729I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	729					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCATCTGGATCCCAATTATGT	0.488000													25	770					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204416603	204416603	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:204416603C>T	ENST00000367187.3	-	16	3006	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	817					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTTAAGCTTGCGCTGGTCTTC	0.557000													52	245					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6093196	6093196	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr20:6093196T>G	ENST00000217289.4	-	4	1248	c.460A>C	c.(460-462)Aaa>Caa	p.K154Q	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	154	FERM.|Poly-Lys.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTATTATTTTTGTCTTTTTTC	0.318000													26	526					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99071230	99071230	+	Silent	SNP	C	C	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:99071230C>A	ENST00000357310.1	+	13	2398	c.1821C>A	c.(1819-1821)tcC>tcA	p.S607S	APAF1_ENST00000547045.1_Silent_p.S607S|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Silent_p.S596S|APAF1_ENST00000359972.2_Silent_p.S596S|APAF1_ENST00000551964.1_Silent_p.S607S|APAF1_ENST00000549007.1_Silent_p.S607S|APAF1_ENST00000339433.3_Silent_p.S607S|APAF1_ENST00000333991.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	607					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CGAATCTTTCCCGCTTAGTTG	0.368000													11	319					0.0692343	0.0704818	1	1	0
AACS	65985	broad.mit.edu	37	12	125612743	125612743	+	Missense_Mutation	SNP	A	A	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:125612743A>C	ENST00000545511.1	+	3	5072	c.85A>C	c.(85-87)Att>Ctt	p.I29L	AACS_ENST00000261686.6_Missense_Mutation_p.N449T|AACS_ENST00000316519.6_Missense_Mutation_p.N449T|AACS_ENST00000316543.10_Missense_Mutation_p.N47T			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	0					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATGGGCCACAATTTTTCTCTT	0.493000													24	133					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810584	7810584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:7810584G>A	ENST00000315599.7	-	4	590	c.568C>T	c.(568-570)Cag>Tag	p.Q190*	CD209_ENST00000204801.8_Nonsense_Mutation_p.Q146*|CD209_ENST00000315591.8_Nonsense_Mutation_p.Q166*|CD209_ENST00000601951.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Nonsense_Mutation_p.Q190*|CD209_ENST00000301357.8_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000601256.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000602261.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	190	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGATCTCCTGCTGCTTAGAT	0.547000													43	730					0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69260780	69260780	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:69260780G>A	ENST00000551568.1	-	7	896	c.836C>T	c.(835-837)aCg>aTg	p.T279M	CPM_ENST00000546373.1_Missense_Mutation_p.T279M|CPM_ENST00000338356.3_Missense_Mutation_p.T279M	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	279					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CAGCTCCAACGTAATTTCAAA	0.383000													50	404					0	0	1	0	0
RNGTT	8732	broad.mit.edu	37	6	89388128	89388128	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:89388128G>C	ENST00000369485.4	-	14	1636	c.1450C>G	c.(1450-1452)Cag>Gag	p.Q484E	RNGTT_ENST00000538899.1_Missense_Mutation_p.Q401E|RNGTT_ENST00000369475.3_Missense_Mutation_p.Q484E|RNGTT_ENST00000265607.6_Missense_Mutation_p.Q461E	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	484	GTase.			Q -> P (in Ref. 1; AAB91559).	interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CCAACATTCTGAGGAAGTAAC	0.294000													6	164					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46568662	46568662	+	Splice_Site	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:46568662C>T	ENST00000458649.2	-	4	797		c.e4+1		AMBRA1_ENST00000426438.1_Splice_Site|AMBRA1_ENST00000314845.3_Splice_Site|AMBRA1_ENST00000534300.1_Splice_Site|AMBRA1_ENST00000533727.1_Splice_Site|AMBRA1_ENST00000298834.3_Splice_Site|AMBRA1_ENST00000528950.1_Splice_Site			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1						autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAAATACTCACGTGTAAATCC	0.463000													6	347					0	0	1	0	0
OGFOD3	79701	broad.mit.edu	37	17	80361874	80361874	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:80361874C>T	ENST00000313056.5	-	7	789	c.638G>A	c.(637-639)cGc>cAc	p.R213H	OGFOD3_ENST00000329197.5_Missense_Mutation_p.R213H	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		GCTGTTTATGCGGGAGAAGAA	0.642000													3	46					0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36217507	36217507	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:36217507T>C	ENST00000396594.3	-	12	2228	c.2117A>G	c.(2116-2118)tAt>tGt	p.Y706C	GNE_ENST00000543356.2_Missense_Mutation_p.Y670C|GNE_ENST00000539208.1_Missense_Mutation_p.Y565C|GNE_ENST00000447283.2_Missense_Mutation_p.Y601C|GNE_ENST00000377902.5_Missense_Mutation_p.Y675C|GNE_ENST00000539815.1_Missense_Mutation_p.Y675C	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	675	N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			AATGTGGATATAGTGACTGGC	0.552000													8	229					0	0	1	0	0
RP11-467H10.2	0	broad.mit.edu	37	7	76681226	76681226	+	RNA	SNP	G	G	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:76681226G>C	ENST00000459742.1	+	0	58																											TGTCACACTTGAAGGAGGCAG	0.453000													5	31					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46129388	46129388	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:46129388G>T	ENST00000371383.2	-	5	1369	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	ENPP5_ENST00000230565.3_Missense_Mutation_p.S370Y			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	370						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CAAATCTGTGGAGTTCATGGC	0.448000													42	1243					7.26314e-15	7.89168e-15	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			21	117					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34285425	34285425	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:34285425C>T	ENST00000373381.4	-	9	1389	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	365	CUB 3.					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)				GTGAACTGGACGCTGGATCCT	0.592000													13	246					0	0	1	0	0
ZNF784	147808	broad.mit.edu	37	19	56133798	56133798	+	Silent	SNP	A	A	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:56133798A>C	ENST00000325351.4	-	2	330	c.291T>G	c.(289-291)ggT>ggG	p.G97G	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCGGGTCCCCACCCTGCCCGC	0.711000													6	57					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153009	4153009	+	Missense_Mutation	SNP	G	G	A	rs149058628	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:4153009G>A	ENST00000404826.2	+	24	3662	c.3523G>A	c.(3523-3525)Gtg>Atg	p.V1175M	SDK1_ENST00000389531.3_Missense_Mutation_p.V1175M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1175	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCACCCGACGTGGCTCCAAC	0.612000													291	959					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089264	86089264	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:86089264G>A	ENST00000330753.4	+	2	2173	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	FLRT2_ENST00000554746.1_Missense_Mutation_p.R469H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	469	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTTCAGGAGCGCATAGTCAGC	0.507000													9	559					0	0	1	0	0
IGHG3	0	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:106237582C>T	ENST00000390551.2	-	0	160																											GTAGGACAGCCGGGAAGGTGT	0.637000													4	229					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16956761	16956761	+	RNA	SNP	C	C	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:16956761C>G	ENST00000412962.1	-	0	294																											CCTGGACCTGCCCTGGGGCAG	0.647000													4	44					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208534	58208534	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:58208534C>T	ENST00000377918.3	+	1	1880	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	618	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGACTTCGGCGAGAGCGGGC	0.657000													8	451					0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73997474	73997474	+	Translation_Start_Site	SNP	G	G	A	rs2069528	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:73997474G>A	ENST00000425876.2	+	0	56				TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Intron			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3						cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CAAATTGCCCGGTGCCTTCTG	0.622000													5	131					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10080533	10080533	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:10080533C>T	ENST00000382452.2	-	12	1659	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	WDR1_ENST00000382451.2_Silent_p.T319T|WDR1_ENST00000502702.1_Silent_p.T319T|WDR1_ENST00000499869.2_Silent_p.T459T|WDR1_ENST00000515743.1_5'UTR	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	459					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CAATTGCCACCGTGTCCCCGC	0.592000													5	259					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													4	35					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4836091	4836091	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:4836091C>T	ENST00000268231.8	-	3	445	c.182G>A	c.(181-183)gGc>gAc	p.G61D	SEPT12_ENST00000591861.1_5'UTR|SEPT12_ENST00000396693.5_Missense_Mutation_p.G61D	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	61					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CGTGGACTTGCCCAGCCCGCT	0.522000													16	172					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110765385	110765385	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:110765385A>G	ENST00000395494.2	+	7	1140	c.577A>G	c.(577-579)Atg>Gtg	p.M193V	ATP2A2_ENST00000539276.2_Missense_Mutation_p.M220V|ATP2A2_ENST00000308664.6_Missense_Mutation_p.M220V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	220					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGGGAAAGCTATGGGAGTGGT	0.463000													32	882					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1																						gaggcggtggcggcggcggca	0.786000													8	62					9.70103e-10	1.0245e-09	1	1	0
IGLC2	0	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													4	99					0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52639214	52639214	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:52639214G>A	ENST00000331817.5	+	7	1186	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	335	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GTTGGAGGCCGCCATTGCCGA	0.657000													4	134					0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34329991	34329991	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:34329991G>A	ENST00000522796.1	+	4	2104	c.199G>A	c.(199-201)Gac>Aac	p.D67N	HMGB4_ENST00000519684.1_Missense_Mutation_p.D67N|HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	67						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCCAAACTCGACAAAGCCCG	0.458000													62	584					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18896929	18896929	+	Silent	SNP	A	A	G	rs140363576	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:18896929A>G	ENST00000446231.2	-	7	1294	c.882T>C	c.(880-882)tgT>tgC	p.C294C	SMG1_ENST00000389467.3_Silent_p.C294C|SMG1_ENST00000565224.1_Silent_p.C268C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	294	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAACACATTTACAAAGCAATT	0.373000													5	320					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95095781	95095781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:95095781G>T	ENST00000377028.5	-	7	1703	c.1290C>A	c.(1288-1290)taC>taA	p.Y430*	DCT_ENST00000446125.1_Nonsense_Mutation_p.Y463*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	430					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GAACCATGTTGTACATCCGAT	0.463000													33	245					1.71298e-08	1.79228e-08	1	1	0
PADI6	353238	broad.mit.edu	37	1	17699379	17699380	+	RNA	INS	-	-	AC	rs10690473	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:17699379_17699380insAC	ENST00000434762.2	+	0	166							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCGGAGAGCAAACACAGGGGTC	0.569													4	9	---	---	---	---					
CYP4Z2P	0	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2																						CAAAAACAAAACCCTAGATATT	0.421													8	76	---	---	---	---					
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:110300579_110300580insT	ENST00000369805.3	-	9	1050_1051	c.821_822insA	c.(820-822)aaafs	p.K274fs	EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm	protein binding	p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545													7	862	---	---	---	---					
ANKRD20A12P	0	broad.mit.edu	37	1	142716575	142716578	+	RNA	DEL	AAAC	AAAC	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:142716575_142716578delAAAC	ENST00000595144.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422													14	453	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs138980379		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGTAGATTGTTATTTCGTTTTT	0.416													3	6	---	---	---	---					
AC009499.1	0	broad.mit.edu	37	2	34041837	34041838	+	RNA	INS	-	-	CCTCC	rs140516377	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:34041837_34041838insCCTCC	ENST00000366209.2	+	0	68																											tcttctcttctcctcccctccc	0.480													4	6	---	---	---	---					
AC073218.1	0	broad.mit.edu	37	2	34722106	34722106	+	RNA	DEL	C	C	-	rs60359332		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:34722106delC	ENST00000422558.1	+	0	475																											ttttttttttcgacagggtct	0.418													2	4	---	---	---	---					
ALMS1	7840	broad.mit.edu	37	2	73613032	73613037	+	In_Frame_Del	DEL	GGAGGA	GGAGGA	-	rs72319667		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:73613032_73613037delGGAGGA	ENST00000264448.6	+	1	147_152	c.36_41delGGAGGA	c.(34-42)ctg>ct	p.LEE12del	ALMS1_ENST00000409009.1_In_Frame_Del_p.LEE12del|ALMS1_ENST00000377715.1_In_Frame_Del_p.LEE12del	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	12	Glu-rich.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.E27_E28delEE(1)|p.E28_A29insE(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CGGGCGAGCTggaggaggaggaggag	0.694													5	2	---	---	---	---					
AC097374.2	0	broad.mit.edu	37	2	95558422	95558423	+	RNA	INS	-	-	T	rs5832787		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:95558422_95558423insT	ENST00000568768.1	-	0	476																											ATCTGGACCCCGTTTGCAATCT	0.475													7	66	---	---	---	---					
DUSP2	1844	broad.mit.edu	37	2	96809973	96809973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:96809973delA	ENST00000288943.4	-	3	735	c.650delT	c.(649-651)tcfs	p.F217fs		NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	217					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CTTGTAGCGGAAAAGGCCCTC	0.602													7	598	---	---	---	---					
PLA2R1	0	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:160801441_160801442insT	ENST00000283243.7	-	28	4325_4326	c.4119_4120insA	c.(4117-4122)aagcttfs	p.L1374fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1374	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401													9	834	---	---	---	---					
AC027119.1	0	broad.mit.edu	37	3	6147264	6147265	+	RNA	INS	-	-	T	rs28653365		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:6147264_6147265insT	ENST00000425894.1	+	0	322																											tccCCTCTCTCTTTTTTTTTTT	0.455													2	4	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:186544620_186544622delGGT	ENST00000431808.1	-	14	2512_2514	c.1949_1951delACC	c.(1948-1953)cgc>c	p.HR650del	SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522													8	370	---	---	---	---					
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)ggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493													8	1767	---	---	---	---					
HOXA11	3207	broad.mit.edu	37	7	27222462	27222462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:27222462delT	ENST00000006015.3	-	2	966	c.895delA	c.(895-897)ttfs	p.I299fs		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TCTCTGTTAATTTTTTTTTCC	0.448			T	NUP98	CML								7	743	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	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_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_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													7	11	---	---	---	---					
RP4-659J6.2	0	broad.mit.edu	37	7	139878082	139878089	+	RNA	DEL	TCCCTCCC	TCCCTCCC	-	rs57191915		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:139878082_139878089delTCCCTCCC	ENST00000566699.1	+	0	1022_1029					NR_024451.1																						cttccttccttccctccctccCTTTCCT	0.471													4	6	---	---	---	---					
RP11-11N9.4	0	broad.mit.edu	37	8	32874028	32874029	+	RNA	INS	-	-	GT	rs141368832	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr8:32874028_32874029insGT	ENST00000500843.2	+	0	139																											aatgagtgagagtgtgtgtgtg	0.480													4	4	---	---	---	---					
STAU2	27067	broad.mit.edu	37	8	74507471	74507471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr8:74507471delT	ENST00000355780.5	-	10	1213	c.995delA	c.(994-996)atfs	p.N332fs	STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTCTGCAGCATTTTTTTTGGC	0.328													10	493	---	---	---	---					
CCDC26	0	broad.mit.edu	37	8	130486240	130486241	+	RNA	INS	-	-	GCTTAACATG	rs146923907	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr8:130486240_130486241insGCTTAACATG	ENST00000446592.3	-	0	360																											ggctcagctcagcttaacatgg	0.545													4	4	---	---	---	---					
GRHPR	9380	broad.mit.edu	37	9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G	rs150805048		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:37424907_37424908insG	ENST00000607784.1	+	2	154_155	c.149_150insG	c.(148-150)gggfs	p.G50fs	GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs|GRHPR_ENST00000493368.1_3'UTR			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658													10	330	---	---	---	---					
LINC00475	0	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs58003635		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:94904432delG	ENST00000416438.2	+	0	184					NR_027341.1																						GGCCTTCTTTGGGGGGGGGGT	0.612													8	7	---	---	---	---					
LYZL1	84569	broad.mit.edu	37	10	29599965	29599965	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:29599965delA	ENST00000375500.3	+	5	619	c.562delA	c.(562-564)aafs	p.K189fs		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	143					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				GTCCGAGTGGAAAAAAGGCTG	0.512													7	1022	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55582841	55582842	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:55582841_55582842insA	ENST00000361849.3	-	34	5044_5045	c.4650_4651insT	c.(4648-4653)tttagafs	p.R1551fs	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Frame_Shift_Ins_p.R1546fs|PCDH15_ENST00000395433.1_Frame_Shift_Ins_p.R1526fs|PCDH15_ENST00000320301.6_Frame_Shift_Ins_p.R1549fs|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Frame_Shift_Ins_p.R1480fs|PCDH15_ENST00000395432.2_Frame_Shift_Ins_p.R1509fs	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1549					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATGGGTCTACAAAATCTGTTC	0.411										HNSCC(58;0.16)			61	752	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129904534	129904535	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:129904534_129904535insT	ENST00000368654.3	-	13	5944_5945	c.5569_5570insA	c.(5569-5571)actfs	p.T1857fs	MKI67_ENST00000368653.3_Frame_Shift_Ins_p.T1497fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1857	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGCAGAGTATTTTTTTGGTA	0.480													7	1379	---	---	---	---					
RP11-116N8.1	0	broad.mit.edu	37	14	36463320	36463321	+	RNA	INS	-	-	CTTT	rs10667379	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:36463320_36463321insCTTT	ENST00000550089.1	+	0	242																											ttccttccttcctttctttctt	0.396													4	6	---	---	---	---					
RP11-522B15.3	0	broad.mit.edu	37	15	96920150	96920173	+	RNA	DEL	TCTTTCTTTCTTTCTTTCTTTCTT	TCTTTCTTTCTTTCTTTCTTTCTT	-	rs59076320		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr15:96920150_96920173delTCTTTCTTTCTTTCTTTCTTTCTT	ENST00000558499.1	+	0	123																											ctttcttttctctttctttctttctttctttctttctttctttc	0.321													3	3	---	---	---	---					
CTC-297N7.5	0	broad.mit.edu	37	17	10647269	10647270	+	RNA	INS	-	-	CTTC	rs56218112	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:10647269_10647270insCTTC	ENST00000583343.1	+	0	144				CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.5_ENST00000583012.1_RNA|CTC-297N7.9_ENST00000579529.2_lincRNA|CTC-297N7.5_ENST00000579114.1_RNA|TMEM220-AS1_ENST00000580899.1_RNA|CTC-297N7.5_ENST00000581366.1_RNA																							tccctccttctcttccttcctt	0.416													4	2	---	---	---	---					
AC126365.1	0	broad.mit.edu	37	17	20623668	20623668	+	RNA	DEL	T	T	-	rs151078009		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:20623668delT	ENST00000578210.1	+	0	150					NR_073509.1																						gcccggctaattttttttttt	0.572													4	8	---	---	---	---					
USP36	57602	broad.mit.edu	37	17	76800004	76800004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:76800004delT	ENST00000312010.6	-	16	2597	c.2273delA	c.(2272-2274)ccfs	p.H758fs	USP36_ENST00000449938.2_Frame_Shift_Del_p.H458fs|USP36_ENST00000542802.2_Frame_Shift_Del_p.H758fs	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	758					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAATGTGGGGTGGGGGCTGAA	0.627													7	341	---	---	---	---					
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gag>g	p.EQ906del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	906					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCGAGGTGGagcagcagcagca	0.744													8	11	---	---	---	---					
PLEKHA4	0	broad.mit.edu	37	19	49355519	49355530	+	In_Frame_Del	DEL	GTCTCTCTTAAG	GTCTCTCTTAAG	-	rs147150671	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:49355519_49355530delGTCTCTCTTAAG	ENST00000263265.6	-	13	1935_1946	c.1380_1391delCTTAAGAGAGAC	c.(1378-1392)acg>ac	p.TLRET460del	PLEKHA4_ENST00000355496.5_In_Frame_Del_p.TLRET435del	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	460						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTACTCCAGCGTCTCTCTTAAGGTGCCCAGCT	0.566													22	464	---	---	---	---					
PLXNA3	55558	broad.mit.edu	37	X	153688565	153688565	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:153688565delG	ENST00000369682.3	+	2	217	c.42delG	c.(40-42)gtfs	p.V14fs		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTTGCCGTGGGGGGGGCCC	0.682													8	689	---	---	---	---					
