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
PLS1	5357	broad.mit.edu	37	3	142389859	142389859	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr3:142389859G>C	ENST00000337777.3	+	4	472	c.259G>C	c.(259-261)Gat>Cat	p.D87H	PLS1_ENST00000497002.1_Missense_Mutation_p.D87H|PLS1_ENST00000457734.2_Missense_Mutation_p.D87H	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	87						cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AAAAAGCAAAGATATCAGCAA	0.323000													62	59					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86073608	86073608	+	Silent	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:86073608G>A	ENST00000377332.3	-	5	849	c.741C>T	c.(739-741)ggC>ggT	p.G247G	ST3GAL5_ENST00000393805.1_Silent_p.G219G|ST3GAL5_ENST00000393808.3_Silent_p.G224G	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	247					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACAGTGGTGCGCCCTCTGGAT	0.348000													37	66					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178466	140178466	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr3:140178466C>T	ENST00000458420.3	+	7	1267	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	359					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCAAGTTTGACGGCAGGCAGG	0.577000										HNSCC(16;0.037)			8	51					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97052768	97052768	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:97052768A>G	ENST00000326771.2	+	4	682	c.302A>G	c.(301-303)aAg>aGg	p.K101R	FHL5_ENST00000541107.1_Missense_Mutation_p.K101R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	101	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGCTCCTCCAAGTGCTTCCAC	0.512000													55	64					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	42					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33635015	33635015	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:33635015G>A	ENST00000374316.5	+	16	2721	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R554H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	554					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACATGTTCCGCCTGTGCTAC	0.642000													8	49					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229959	87229959	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:87229959T>C	ENST00000297524.3	-	3	1022	c.919A>G	c.(919-921)Ata>Gta	p.I307V	SLC7A13_ENST00000419776.2_Missense_Mutation_p.I298V|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	307						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GATTTAAATATAGAAATCAGA	0.388000													15	165					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196619149	196619149	+	Silent	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:196619149G>A	ENST00000312428.6	-	63	11776	c.11676C>T	c.(11674-11676)taC>taT	p.Y3892Y	DNAH7_ENST00000409063.1_Silent_p.Y375Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3892					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						ATTTCCTGGCGTAGTTCTGCT	0.478000													29	33					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													5	153					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111710363	111710363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:111710363G>A	ENST00000435970.1	-	9	1390	c.574C>T	c.(574-576)Caa>Taa	p.Q192*	REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q270*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q270*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.Q270*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	270					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCGCCGTTGCTTTTCATCT	0.373000								DNA polymerases (catalytic subunits)					75	152					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21353502	21353502	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr12:21353502T>G	ENST00000256958.2	+	9	1127	c.1031T>G	c.(1030-1032)tTg>tGg	p.L344W		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	344					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTGTGCTTTTGACGTTGTTA	0.328000													45	47					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72723223	72723223	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:72723223G>A	ENST00000377182.4	+	3	862	c.245G>A	c.(244-246)cGt>cAt	p.R82H	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	82	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGCTGCCTCCGTTTGGTCTAC	0.493000													9	59					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170428869	170428869	+	Silent	SNP	C	C	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr4:170428869C>A	ENST00000439128.2	-	20	2464	c.1824G>T	c.(1822-1824)ctG>ctT	p.L608L	NEK1_ENST00000511633.1_Silent_p.L592L|NEK1_ENST00000507142.1_Silent_p.L636L|NEK1_ENST00000512193.1_Silent_p.L539L|NEK1_ENST00000510533.1_Silent_p.L564L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	608					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTATACCTTCAGTGATTCGA	0.338000													10	32					5.16669e-11	5.43393e-11	1	1	0
CALM3	808	broad.mit.edu	37	19	47111535	47111535	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:47111535C>T	ENST00000291295.9	+	3	315	c.116C>T	c.(115-117)tCc>tTc	p.S39F	CALM3_ENST00000599839.1_Missense_Mutation_p.S3F|CALM3_ENST00000598871.1_Missense_Mutation_p.S3F|CALM3_ENST00000596362.1_Missense_Mutation_p.S39F|CALM3_ENST00000594523.1_Missense_Mutation_p.S3F|CALM3_ENST00000597743.1_Missense_Mutation_p.S39F|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000391918.2_Missense_Mutation_p.S3F	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	39	EF-hand 1.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GTGATGAGATCCCTGGGACAG	0.577000													3	26					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87530171	87530171	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:87530171A>G	ENST00000265728.1	+	10	1406	c.902A>G	c.(901-903)cAg>cGg	p.Q301R		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	301					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TGTTGCTTGCAGAAATATGAA	0.333000													4	138					0	0	1	0	0
MRGBP	55257	broad.mit.edu	37	20	61430826	61430826	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr20:61430826G>A	ENST00000370487.3	+	5	517	c.446G>A	c.(445-447)aGt>aAt	p.S149N		NM_018270.4	NP_060740.1			MRG/MORF4L binding protein																		TCTTCAGGGAGTTTGGGGAAA	0.428000													42	40					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47744591	47744591	+	Silent	SNP	A	A	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr11:47744591A>T	ENST00000263773.5	-	15	2754	c.2742T>A	c.(2740-2742)ccT>ccA	p.P914P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.							p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						gtggtggtggaggaggaggag	0.463000													3	13					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25327992	25327992	+	RNA	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr15:25327992G>A	ENST00000546682.1	+	0	188				SNORD116-16_ENST00000384533.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CGTCATCCTCGTCGAACTGAG	0.473000													6	450					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21994137	21994137	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:21994137C>T	ENST00000579755.1	-	1	486		c.e1+1		CDKN2A_ENST00000470819.2_Intron|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(198)|p.?(2)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTTTCCTACCTGGTCTTCT	0.602000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	15					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	120					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53440219	53440219	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chrX:53440219G>A	ENST00000322213.4	-	4	705	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	193					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCGTTCAGCCGCAATATTTTT	0.512000													4	102					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817164	2817164	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr16:2817164C>A	ENST00000301740.8	+	11	7184	c.6635C>A	c.(6634-6636)cCa>cAa	p.P2212Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2212	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCCCAGGTTCCAGCCCCGGTG	0.617000													4	84					0.184627	0.184627	1	1	0
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612000			"""Mis, F, S"""		oligodendroglioma								40	24					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50626681	50626681	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr14:50626681A>T	ENST00000216373.5	-	10	1594	c.1320T>A	c.(1318-1320)aaT>aaA	p.N440K	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.N407K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	440					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TAATGAATTCATTACAACACT	0.363000													80	113					0	0	1	0	0
TPM4	7171	broad.mit.edu	37	19	16178536	16178536	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:16178536C>T	ENST00000538887.1	+	1	189	c.102C>T	c.(100-102)gaC>gaT	p.D34D	TPM4_ENST00000344824.6_Silent_p.D34D			P67936	TPM4_HUMAN	tropomyosin 4	152					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						CCGCTGAGGACAAGTGCAAGC	0.632000			T	ALK	ALCL								28	43					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								44	62					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120079533	120079533	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:120079533G>T	ENST00000332843.2	+	1	54	c.13G>T	c.(13-15)Gca>Tca	p.A5S	COLEC10_ENST00000521788.1_Intron|RP11-278I4.2_ENST00000518362.1_RNA	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	5						collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GAATGGCTTTGCATCCTTGCT	0.423000													44	59					1.02591e-13	1.0979e-13	1	1	0
CIC	23152	broad.mit.edu	37	19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:42791715C>T	ENST00000572681.2	+	6	3396	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622000			"""Mis, F, S"""		oligodendroglioma								8	55					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36184025	36184025	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr5:36184025C>T	ENST00000274254.5	+	10	1419	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	SKP2_ENST00000274255.6_3'UTR	NM_032637.3	NP_116026.1	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAACTCAAGTCCAGCCATAAG	0.353000													5	81					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118080	4118080	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:4118080C>T	ENST00000324333.10	-	3	1126	c.933G>A	c.(931-933)gcG>gcA	p.A311A	GLIS3_ENST00000381971.3_Silent_p.A466A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	311					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGTGAAGGTGCGCATGGGCAT	0.736000													4	31					0	0	1	0	0
GGT3P	0	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr22:18778612C>T	ENST00000412448.1	-	0	793																											GCGGCCACGGCAGCCCTGGTG	0.637000													5	23					0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152770284	152770284	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chrX:152770284C>T	ENST00000331595.4	+	2	381	c.195C>T	c.(193-195)ttC>ttT	p.F65F	BGN_ENST00000480756.1_Intron|BGN_ENST00000370204.1_Silent_p.F4F	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	65	Cys-rich.					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGTCCTTTCGGCTGCCACT	0.637000													76	4					0	0	1	0	0
EPO	2056	broad.mit.edu	37	7	100320317	100320317	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:100320317G>T	ENST00000252723.2	+	4	458	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	93					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	AGTCTGGCAGGGCCTGGCCCT	0.657000													11	33					2.27111e-07	2.3481e-07	1	1	0
TMEM70	54968	broad.mit.edu	37	8	74891077	74891077	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:74891077T>G	ENST00000312184.5	+	2	370	c.297T>G	c.(295-297)aaT>aaG	p.N99K	TMEM70_ENST00000517439.1_Missense_Mutation_p.N99K	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	99					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			ATACTGGCAATATGGCCCGAG	0.358000													41	47					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72942140	72942140	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:72942140A>G	ENST00000262209.4	-	24	3140	c.2933T>C	c.(2932-2934)aTg>aCg	p.M978T	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	978						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACTTACCTGCATAGCTATCCT	0.388000													20	35					0	0	1	0	0
PHF5A	84844	broad.mit.edu	37	22	41863526	41863526	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr22:41863526G>A	ENST00000216252.3	-	3	240	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	57					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507000													28	50					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624470	53624470	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr13:53624470A>T	ENST00000219022.2	+	5	1175	c.1097A>T	c.(1096-1098)aAt>aTt	p.N366I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	366	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACTCTCCCTAATGCTGCCTAT	0.403000													139	161					0	0	1	0	0
FZD4	8322	broad.mit.edu	37	11	86662454	86662454	+	Silent	SNP	T	T	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr11:86662454T>C	ENST00000531380.1	-	2	1649	c.1344A>G	c.(1342-1344)gcA>gcG	p.A448A	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	448					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCACACACGTTGCAGGAACTG	0.393000													51	130					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	68					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6553002	6553002	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr10:6553002C>T	ENST00000263125.5	-	3	372	c.273G>A	c.(271-273)tcG>tcA	p.S91S	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.S91S	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	91	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TCTCAGCCAGCGAGTAGAGCT	0.468000													5	181					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569118	179569118	+	Silent	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:179569118C>T	ENST00000589042.1	-	106	30203	c.29979G>A	c.(29977-29979)cgG>cgA	p.R9993R	TTN_ENST00000591111.1_Silent_p.R9676R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.R8749R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9676	Glu-rich.						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)			CCTGAAGATGCCGTTCCCATG	0.403000													5	242					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380480	28380480	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr17:28380480C>A	ENST00000394835.3	+	10	1700	c.1508C>A	c.(1507-1509)cCa>cAa	p.P503Q	EFCAB5_ENST00000378738.3_Missense_Mutation_p.P503Q|EFCAB5_ENST00000541045.1_Missense_Mutation_p.P160Q|EFCAB5_ENST00000536908.2_Missense_Mutation_p.P447Q|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P503Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P503Q	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	503							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCATCACCAAACCCGCCA	0.398000													4	80					0.014758	0.015004	1	1	0
C4BPA	722	broad.mit.edu	37	1	207307914	207307914	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr1:207307914C>T	ENST00000367070.3	+	9	1444	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	417	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.P417L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACGTGGAGTCCCCGAACACCA	0.393000													19	128					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37613989	37613989	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:37613989T>C	ENST00000434837.2	-	11	3387	c.2209A>G	c.(2209-2211)Atc>Gtc	p.I737V	MDGA1_ENST00000297153.7_Missense_Mutation_p.I740V|MDGA1_ENST00000505425.1_Missense_Mutation_p.I737V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	737	Fibronectin type-III.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTGTAGTGGATGATGCGGGAG	0.592000													10	10					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656880	46656880	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:46656880C>T	ENST00000544460.1	+	1	1269	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	TDRD6_ENST00000316081.6_Missense_Mutation_p.R339C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	339	Tudor 2.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCGGCCCCAGCGCTGTGCCCA	0.557000													33	53					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75687040	75687040	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr15:75687040A>G	ENST00000394947.3	-	14	2572	c.2258T>C	c.(2257-2259)aTt>aCt	p.I753T	SIN3A_ENST00000360439.4_Missense_Mutation_p.I753T|SIN3A_ENST00000394949.4_Missense_Mutation_p.I753T	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	753	Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GATACTCTCAATCTCATTGAG	0.418000													63	155					0	0	1	0	0
SAMD8	142891	broad.mit.edu	37	10	76928352	76928352	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr10:76928352G>A	ENST00000542569.1	+	4	831	c.728G>A	c.(727-729)cGc>cAc	p.R243H	SAMD8_ENST00000372687.3_Missense_Mutation_p.R243H|SAMD8_ENST00000372690.3_Missense_Mutation_p.R306H	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	243					sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCTTGCTTCGCTGCTTTACC	0.453000													5	208					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49354410	49354410	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr20:49354410G>A	ENST00000371610.2	+	2	326	c.83G>A	c.(82-84)cGt>cAt	p.R28H	PARD6B_ENST00000396039.1_Missense_Mutation_p.R28H	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	28	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GCTGAATTTCGTCGGTTTTCG	0.323000													27	59					0	0	1	0	0
OCIAD1	54940	broad.mit.edu	37	4	48835438	48835438	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr4:48835438C>T	ENST00000425583.2	+	3	354	c.79C>T	c.(79-81)Cca>Tca	p.P27S	OCIAD1_ENST00000444354.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000264312.7_Missense_Mutation_p.P27S|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000513391.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000381473.3_Missense_Mutation_p.P27S|OCIAD1_ENST00000396448.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000508293.1_Missense_Mutation_p.P27S	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	27	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TGATTACATTCCAACAGAGGA	0.318000													23	48					0	0	1	0	0
KCNAB3	9196	broad.mit.edu	37	17	7826851	7826851	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr17:7826851G>A	ENST00000303790.2	-	13	1059	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	354						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CCCTCACTGCGGAGACACCAC	0.577000													3	14					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)afs	p.E823fs	MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401													7	71	---	---	---	---					
RP11-571L19.7	0	broad.mit.edu	37	4	99877753	99877753	+	RNA	DEL	A	A	-	rs33952764		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr4:99877753delA	ENST00000583654.1	+	0	237																											actctgtctcaaaaaaaaaaa	0.448													3	4	---	---	---	---					
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	RNA	INS	-	-	TAAAA	rs80243332	by1000genomes	TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA																							acccatgcacttaaagttaaaa	0.361													4	4	---	---	---	---					
SOX4	6659	broad.mit.edu	37	6	21595634	21595636	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:21595634_21595636delAGA	ENST00000244745.1	+	1	1663_1665	c.869_871delAGA	c.(868-873)gag>g	p.EK290del	SOX4_ENST00000543472.1_In_Frame_Del_p.EK290del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	290					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CACCTGGCGGAGAAGAAGGTGAA	0.754													7	18	---	---	---	---					
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)cccfs	p.P728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													6	12	---	---	---	---					
RP11-33N16.3	0	broad.mit.edu	37	14	90203658	90203660	+	RNA	DEL	CTC	CTC	-	rs10140344		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr14:90203658_90203660delCTC	ENST00000555070.1	-	0	170																											TATTTCTTTTCTCTTTCTTTCtt	0.355													5	6	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)tcfs	p.I91fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													8	229	---	---	---	---					
