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
SLC4A10	57282	broad.mit.edu	37	2	162719534	162719534	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr2:162719534G>A	ENST00000375514.5	+	7	1048	c.761G>A	c.(760-762)gGc>gAc	p.G254D	SLC4A10_ENST00000421911.1_Missense_Mutation_p.G243D|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G243D|SLC4A10_ENST00000272716.5_Missense_Mutation_p.G243D|SLC4A10_ENST00000535165.1_Missense_Mutation_p.G243D|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.G243D	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	243					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCTGATATTGGCAAGAAACAG	0.388000													9	40					0	0	1	0	0
PLSCR5	389158	broad.mit.edu	37	3	146309605	146309605	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr3:146309605G>T	ENST00000443512.1	-	5	1520	c.517C>A	c.(517-519)Ctg>Atg	p.L173M	PLSCR5_ENST00000492200.1_Missense_Mutation_p.L173M|PLSCR5_ENST00000482567.1_Missense_Mutation_p.L161M	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	173										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AATTTAGGCAGAAAGGGGTCC	0.378000													5	20					1.23904e-05	1.4603e-05	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3889532	3889532	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr8:3889532A>G	ENST00000520002.1	-	4	1060	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	CSMD1_ENST00000542608.1_Missense_Mutation_p.Y169H|CSMD1_ENST00000539096.1_Missense_Mutation_p.Y169H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y169H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y169H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y169H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Y169H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	169	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGCAGCTGTACCGGATTTTG	0.502000													6	33					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35072753	35072753	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr5:35072753A>T	ENST00000382002.5	-	6	893	c.467T>A	c.(466-468)cTg>cAg	p.L156Q	PRLR_ENST00000542609.1_Missense_Mutation_p.L156Q|PRLR_ENST00000513753.1_Missense_Mutation_p.L156Q|PRLR_ENST00000511486.1_Missense_Mutation_p.L55Q|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.L85Q|PRLR_ENST00000348262.3_Missense_Mutation_p.L156Q|PRLR_ENST00000310101.5_Missense_Mutation_p.L156Q|PRLR_ENST00000231423.3_Missense_Mutation_p.L156Q|PRLR_ENST00000342362.5_Missense_Mutation_p.L55Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	156	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TAAGTCAATCAGGGTAGGTGG	0.463000													15	95					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166946522	166946522	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr4:166946522C>G	ENST00000061240.2	+	9	1744	c.1097C>G	c.(1096-1098)cCc>cGc	p.P366R	TLL1_ENST00000513213.1_Missense_Mutation_p.P366R|TLL1_ENST00000507499.1_Missense_Mutation_p.P366R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	366	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCAGGATTTCCCAATGGCTAC	0.383000													12	65					0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284459	43284459	+	RNA	SNP	T	T	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr11:43284459T>A	ENST00000511537.1	-	0	476					NR_033868.1																						AACTCCATAGTCTTTCTCCAG	0.393000													4	15					0	0	1	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													3	12					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34922052	34922052	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr21:34922052G>T	ENST00000356577.4	+	3	990	c.515G>T	c.(514-516)aGa>aTa	p.R172I	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.R172I|SON_ENST00000381679.4_Missense_Mutation_p.R172I|SON_ENST00000290239.6_Missense_Mutation_p.R172I	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	172					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTTCCTACAAGAGCATTTGGC	0.433000													12	75					6.40141e-05	7.1609e-05	1	1	0
TMIGD2	126259	broad.mit.edu	37	19	4292689	4292689	+	Silent	SNP	G	G	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr19:4292689G>T	ENST00000301272.2	-	5	801	c.756C>A	c.(754-756)ccC>ccA	p.P252P	TMIGD2_ENST00000600349.1_Silent_p.P80P|TMIGD2_ENST00000600114.1_Silent_p.P132P|TMIGD2_ENST00000595645.1_Silent_p.P248P	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	252	Pro-rich.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGTggccgggcctggggc	0.662000													29	72					4.31634e-10	5.27552e-10	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	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)			5	20					1	1	1	1	0
OR4B1	119765	broad.mit.edu	37	11	48238706	48238706	+	Silent	SNP	G	G	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr11:48238706G>T	ENST00000309562.2	+	1	363	c.345G>T	c.(343-345)gtG>gtT	p.V115V		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGATTGTGGTGATGGCCTATG	0.453000													33	160					3.67414e-24	4.84987e-24	1	1	0
CCNYL2	414194	broad.mit.edu	37	10	42928781	42928781	+	RNA	SNP	G	G	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr10:42928781G>T	ENST00000483242.3	-	0	719					NR_103829.1				cyclin Y-like 2											breast(2)|endometrium(1)|lung(3)|ovary(1)	7						CTGTATTGTTGAGTAAAATGC	0.348000													9	46					0.000442599	0.000478878	1	1	0
KIAA1984	84960	broad.mit.edu	37	9	139697163	139697163	+	Silent	SNP	G	G	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr9:139697163G>A	ENST00000338005.6	+	6	626	c.591G>A	c.(589-591)gtG>gtA	p.V197V	KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	197										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGAACCTCGTGGTCAACTACT	0.567000													24	95					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113326251	113326251	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr8:113326251G>T	ENST00000297405.5	-	49	7824	c.7580C>A	c.(7579-7581)tCc>tAc	p.S2527Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2487Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2423Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2457Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2527	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCACTGAGGGAAATAAGCAC	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	42					0.0293803	0.0302985	1	1	0
TBX18	9096	broad.mit.edu	37	6	85446903	85446903	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr6:85446903T>A	ENST00000369663.5	-	8	1661	c.1324A>T	c.(1324-1326)Acc>Tcc	p.T442S	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	442					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCCTGGTTGGTGAGCCTGTTG	0.602000													22	68					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650720	146650720	+	RNA	SNP	C	C	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr1:146650720C>T	ENST00000607149.1	+	0	350																											GAGGATTTCTCGCGTGATGGG	0.468000													21	107					0	0	1	0	0
PTER	9317	broad.mit.edu	37	10	16526412	16526412	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr10:16526412C>A	ENST00000378000.1	+	3	275	c.29C>A	c.(28-30)aCc>aAc	p.T10N	PTER_ENST00000423462.2_Missense_Mutation_p.T10N|PTER_ENST00000535784.2_Missense_Mutation_p.T10N|PTER_ENST00000298942.3_Missense_Mutation_p.T10N	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	10					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AAAGTCCAAACCGTTTTGGGC	0.453000													6	85					0.00198382	0.00211181	1	1	0
TMC2	117532	broad.mit.edu	37	20	2591142	2591142	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr20:2591142C>G	ENST00000358864.1	+	12	1506	c.1491C>G	c.(1489-1491)caC>caG	p.H497Q	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	497						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGAATTACCACCCACGCACTG	0.532000													50	141					0	0	1	0	0
SERGEF	26297	broad.mit.edu	37	11	18010293	18010293	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr11:18010293T>A	ENST00000265965.5	-	8	846	c.695A>T	c.(694-696)gAg>gTg	p.E232V	SERGEF_ENST00000532265.1_Missense_Mutation_p.E118V|SERGEF_ENST00000528200.1_Missense_Mutation_p.E232V	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	232					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						AACATACACCTCTCCTGCATC	0.403000													5	42					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10081545	10081545	+	Silent	SNP	G	G	C	rs17032283	by1000genomes	TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr3:10081545G>C	ENST00000431693.1	+	8	749	c.711G>C	c.(709-711)ctG>ctC	p.L237L	FANCD2_ENST00000419585.1_Intron|FANCD2_ENST00000383807.1_Intron|FANCD2_ENST00000438741.1_Intron|FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000287647.3_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	0	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TAAACCCTCTGTCATCATCTA	0.478000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	63					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58260567	58260567	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr17:58260567C>T	ENST00000300896.4	-	31	4276	c.4082G>A	c.(4081-4083)aGc>aAc	p.S1361N	USP32_ENST00000592339.1_Missense_Mutation_p.S1031N	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1361					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGAGGATGGGCTTTTGCTCAG	0.567000													12	97					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546821	11546821	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr12:11546821C>T	ENST00000389362.4	-	3	226	c.191G>A	c.(190-192)gGa>gAa	p.G64E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTGCCTCCTTGTGGGGG	0.592000													49	211					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080515	1080515	+	Silent	SNP	G	G	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr19:1080515G>A	ENST00000313093.2	+	15	2112	c.1881G>A	c.(1879-1881)tcG>tcA	p.S627S	HMHA1_ENST00000586866.1_Silent_p.S631S|HMHA1_ENST00000590214.1_Silent_p.S654S|HMHA1_ENST00000536472.1_Silent_p.S495S|HMHA1_ENST00000590577.1_Silent_p.S262S|HMHA1_ENST00000543365.1_Silent_p.S510S|HMHA1_ENST00000539243.2_Silent_p.S643S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	627					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TCTCAGACTCGGACAGTGGGC	0.662000													16	70					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35733991	35733991	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr13:35733991C>T	ENST00000540320.1	+	22	4217	c.3683C>T	c.(3682-3684)tCa>tTa	p.S1228L	NBEA_ENST00000310336.4_Missense_Mutation_p.S1228L|NBEA_ENST00000400445.3_Missense_Mutation_p.S1228L|NBEA_ENST00000379939.2_Missense_Mutation_p.S1228L			Q8NFP9	NBEA_HUMAN	neurobeachin	1228						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTAGCGTCATCAACTAAGGGG	0.358000													4	14					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166946523	166946523	+	Silent	SNP	C	C	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr4:166946523C>A	ENST00000061240.2	+	9	1745	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	TLL1_ENST00000513213.1_Silent_p.P366P|TLL1_ENST00000507499.1_Silent_p.P366P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	366	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CAGGATTTCCCAATGGCTACC	0.383000													12	65					0.000219431	0.000241375	1	1	0
STIL	6491	broad.mit.edu	37	1	47746582	47746582	+	Silent	SNP	G	G	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr1:47746582G>A	ENST00000360380.3	-	13	1911	c.1548C>T	c.(1546-1548)ccC>ccT	p.P516P	STIL_ENST00000243182.6_Silent_p.P516P|STIL_ENST00000396221.2_Silent_p.P516P|STIL_ENST00000371877.3_Silent_p.P516P|STIL_ENST00000337817.5_Silent_p.P516P			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	516					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCCTGGTATGGGGGTTCCCTT	0.408000													27	102					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185636	127185636	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chrX:127185636C>A	ENST00000371124.3	-	1	746	c.550G>T	c.(550-552)Gca>Tca	p.A184S		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	184						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCCCTCCCTGCCATACAGAGT	0.537000													24	39					1.10513e-12	1.40267e-12	1	1	0
TOP1	7150	broad.mit.edu	37	20	39744042	39744042	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr20:39744042A>G	ENST00000361337.2	+	16	1920	c.1670A>G	c.(1669-1671)aAc>aGc	p.N557S	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	557					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TTTATGGAGAACAAGCAGCCC	0.373000			T	NUP98	AML*								5	33					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276535	18276535	+	Silent	SNP	C	C	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr10:18276535C>A	ENST00000377369.2	+	7	1497	c.1224C>A	c.(1222-1224)gcC>gcA	p.A408A	SLC39A12_ENST00000377371.3_Silent_p.A408A|SLC39A12_ENST00000539911.1_Silent_p.A274A|SLC39A12_ENST00000377374.4_Silent_p.A408A	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	408					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.A408A(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGGGCTTGGCCGTCGGGACAC	0.507000													27	119					6.38683e-12	7.95341e-12	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58571924	58571924	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr16:58571924G>T	ENST00000317147.5	-	38	5617	c.5285C>A	c.(5284-5286)gCt>gAt	p.A1762D	CNOT1_ENST00000245138.4_Missense_Mutation_p.A613D|CNOT1_ENST00000569240.1_Missense_Mutation_p.A1757D	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1762					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAACTGCATAGCAAATGCCAC	0.423000													25	68					3.28513e-13	4.25134e-13	1	1	0
MYT1	4661	broad.mit.edu	37	20	62839350	62839350	+	Silent	SNP	G	G	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr20:62839350G>A	ENST00000536311.1	+	7	1165	c.801G>A	c.(799-801)gaG>gaA	p.E267E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E267E			Q01538	MYT1_HUMAN	myelin transcription factor 1	267	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaagaggagg	0.577000													3	24					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1719905	1719905	+	Silent	SNP	C	C	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chrX:1719905C>T	ENST00000313871.3	+	5	1702	c.1506C>T	c.(1504-1506)caC>caT	p.H502H		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	502				H -> P (in Ref. 2; AAA36187).	B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GCCCGGCCCACCCAGAGGCCG	0.711000													7	26					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104897787	104897787	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr8:104897787C>G	ENST00000507740.1	+	2	620	c.384C>G	c.(382-384)taC>taG	p.Y128*	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.Y320*|RIMS2_ENST00000436393.2_Nonsense_Mutation_p.Y98*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.Y128*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	351	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.Y128*(2)|p.Y356*(1)|p.Y320*(1)|p.Y98*(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGATGAATACGAAAGGCAAA	0.428000										HNSCC(12;0.0054)			7	47					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74680478	74680478	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr5:74680478G>C	ENST00000380494.5	-	15	2154	c.1861C>G	c.(1861-1863)Caa>Gaa	p.Q621E	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.Q467E|COL4A3BP_ENST00000508692.1_5'UTR|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.Q493E	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	493					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TTGTGTGTTTGATAAATGATG	0.299000													7	33					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37195756	37195756	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr20:37195756A>G	ENST00000262879.6	+	26	4119	c.3835A>G	c.(3835-3837)Aac>Gac	p.N1279D	RALGAPB_ENST00000397040.1_Missense_Mutation_p.N1279D|RALGAPB_ENST00000397042.3_Missense_Mutation_p.N1276D|RALGAPB_ENST00000397038.1_Missense_Mutation_p.N1058D			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1279	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATTGGAAAGTAACATCTCGGA	0.383000													20	72					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62948180	62948180	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr15:62948180A>T	ENST00000561311.1	+	7	785	c.555A>T	c.(553-555)caA>caT	p.Q185H	TLN2_ENST00000306829.6_Missense_Mutation_p.Q185H			Q9Y4G6	TLN2_HUMAN	talin 2	185	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCAGAGAACAAGGAGTAGATG	0.393000													8	52					0	0	1	0	0
P2RX6	9127	broad.mit.edu	37	22	21377274	21377274	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr22:21377274G>T	ENST00000413302.2	+	5	655	c.507G>T	c.(505-507)agG>agT	p.R169S	P2RX6_ENST00000336296.2_Missense_Mutation_p.R159S|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Missense_Mutation_p.R116S|P2RX6_ENST00000401443.1_Missense_Mutation_p.R143S			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	169					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										GGACCCACAGGACCTGTGAGA	0.572000													20	68					1.64113e-05	1.90026e-05	1	1	0
NFE2L3	9603	broad.mit.edu	37	7	26224975	26224975	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr7:26224975G>C	ENST00000056233.3	+	4	1916	c.1657G>C	c.(1657-1659)Gaa>Caa	p.E553Q		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	553					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTCTGTAGATGAAATTGTCGG	0.408000													19	61					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chrX:155252868T>A	ENST00000285718.7	+	0	819				WASH6P_ENST00000461007.1_RNA														p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000													5	28					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35072752	35072752	+	Silent	SNP	C	C	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr5:35072752C>A	ENST00000382002.5	-	6	894	c.468G>T	c.(466-468)ctG>ctT	p.L156L	PRLR_ENST00000542609.1_Silent_p.L156L|PRLR_ENST00000513753.1_Silent_p.L156L|PRLR_ENST00000511486.1_Silent_p.L55L|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Silent_p.L85L|PRLR_ENST00000348262.3_Silent_p.L156L|PRLR_ENST00000310101.5_Silent_p.L156L|PRLR_ENST00000231423.3_Silent_p.L156L|PRLR_ENST00000342362.5_Silent_p.L55L	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	156	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTAAGTCAATCAGGGTAGGTG	0.463000													15	95					2.31682e-05	2.63638e-05	1	1	0
SCAMP2	10066	broad.mit.edu	37	15	75146963	75146963	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr15:75146963C>T	ENST00000268099.9	-	2	194	c.85G>A	c.(85-87)Gcc>Acc	p.A29T		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	29					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CCCTGCGGGGCGTTGGTCAGC	0.622000													3	11					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62570947	62570947	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr3:62570947A>G	ENST00000383710.4	-	8	1839	c.1490T>C	c.(1489-1491)aTg>aCg	p.M497T	CADPS_ENST00000357948.3_Missense_Mutation_p.M497T|CADPS_ENST00000283269.9_Missense_Mutation_p.M497T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	497					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGAGACTGTCATTTTGTGCCA	0.448000													11	81					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24570231	24570231	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr6:24570231G>A	ENST00000535378.1	-	13	2506	c.1864C>T	c.(1864-1866)Cct>Tct	p.P622S	KIAA0319_ENST00000537886.1_Missense_Mutation_p.P631S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P631S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P631S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P586S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	631	PKD 4.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCTTTATCAGGGCCGGCCACA	0.483000													13	45					0	0	1	0	0
LOC642423	642423	broad.mit.edu	37	15	84868538	84868538	+	RNA	SNP	A	A	G			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr15:84868538A>G	ENST00000559668.1	-	0	3777					NR_049748.1																						ACCTGGTTGCAGGTGCAGAGC	0.637000													2	2					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321669	52321669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr8:52321669C>A	ENST00000356297.4	-	17	2615	c.2515G>T	c.(2515-2517)Gac>Tac	p.D839Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.D839Y	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	839					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAAGGAGGGTCGTTGGTGCAG	0.692000													3	28					0.115264	0.117037	1	1	0
GDF10	2662	broad.mit.edu	37	10	48429408	48429408	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr10:48429408G>A	ENST00000224605.2	-	2	743	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	160					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCAGCGGGCGGCCTGAAGCG	0.677000													8	29					0	0	1	0	0
NTN1	9423	broad.mit.edu	37	17	8926266	8926266	+	Silent	SNP	C	C	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr17:8926266C>T	ENST00000173229.2	+	2	683	c.576C>T	c.(574-576)ccC>ccT	p.P192P	NTN1_ENST00000538852.1_Silent_p.P192P|NTN1_ENST00000546090.1_Silent_p.P192P	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	192	Laminin N-terminal.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						ACCGCGCGCCCATCACCAAGC	0.662000													4	25					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860820	96860820	+	Missense_Mutation	SNP	G	G	A	rs61755091	byFrequency	TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr9:96860820G>A	ENST00000375360.3	+	7	2150	c.1810G>A	c.(1810-1812)Gta>Ata	p.V604I	PTPDC1_ENST00000288976.3_Missense_Mutation_p.V656I	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	604							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAATGAATCTGTAGAAAAGGA	0.373000													6	76					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11925195	11925195	+	Silent	SNP	C	C	T			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr2:11925195C>T	ENST00000256720.2	+	9	1527	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	LPIN1_ENST00000396097.1_Silent_p.I208I|LPIN1_ENST00000449576.2_Silent_p.I563I|LPIN1_ENST00000425416.2_Silent_p.I484I|LPIN1_ENST00000396099.1_Silent_p.I520I	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	478					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACCGGGAGATCACGAAAGGTA	0.692000											OREG0014445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124803922	124803922	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr10:124803922A>G	ENST00000358776.4	+	7	835	c.821A>G	c.(820-822)aAt>aGt	p.N274S	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Missense_Mutation_p.N172S	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	274					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CCAGAAGCCAATATCTTGGGA	0.348000													12	54					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56350197	56350197	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr6:56350197C>A	ENST00000370754.5	-	88	21026	c.21027G>T	c.(21025-21027)tgG>tgT	p.W7009C	DST_ENST00000446842.2_Missense_Mutation_p.W6505C|DST_ENST00000421834.2_Missense_Mutation_p.W4743C|DST_ENST00000370769.4_Missense_Mutation_p.W6831C|DST_ENST00000361203.3_Missense_Mutation_p.W6720C|DST_ENST00000370788.2_Missense_Mutation_p.W4634C|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.W4417C			Q03001	DYST_HUMAN	dystonin	6829					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTATATAACCAATCAATGA	0.408000													15	37					1.15088e-07	1.38105e-07	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228464734	228464735	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr1:228464734_228464735delCT	ENST00000570156.2	+	27	7790_7791	c.7716_7717delCT	c.(7714-7719)cgggfs	p.RW2572fs	OBSCN_ENST00000422127.1_Frame_Shift_Del_p.RW2197fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.RW2197fs|OBSCN_ENST00000359599.6_Frame_Shift_Del_p.RW1044fs|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1566	Ig-like 25.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGATGTGCGCTGGCTGAAGGT	0.649													2	4	---	---	---	---					
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)del	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729													5	2	---	---	---	---					
RP11-597A11.6	0	broad.mit.edu	37	14	20146543	20146544	+	RNA	INS	-	-	GTCCC	rs60511353		TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr14:20146543_20146544insGTCCC	ENST00000555580.1	-	0	225																											CCAACTCAGCAGAACAGTGTCA	0.505													2	4	---	---	---	---					
FBXL16	146330	broad.mit.edu	37	16	745886	745889	+	Frame_Shift_Del	DEL	TCCA	TCCA	-			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr16:745886_745889delTCCA	ENST00000397621.1	-	3	999_1002	c.668_671delTGGA	c.(667-672)cgfs	p.LE223fs	FBXL16_ENST00000562563.1_Frame_Shift_Del_p.LE11fs|FBXL16_ENST00000324361.5_Frame_Shift_Del_p.LE223fs	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	223										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCCCGACAGCTCCAGACGCACCAC	0.667													9	60	---	---	---	---					
PEG3	5178	broad.mit.edu	37	19	57326385	57326386	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-55-8512-01A-11D-2393-08	TCGA-55-8512-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d6e407-25db-4087-a4ea-17126c9e9fea	69e1cba0-bb41-44ad-8ec8-03c46768afcc	g.chr19:57326385_57326386delTG	ENST00000326441.9	-	10	3787_3788	c.3424_3425delCA	c.(3424-3426)tfs	p.H1142fs	PEG3_ENST00000423103.2_Frame_Shift_Del_p.H1142fs|PEG3_ENST00000598410.1_Frame_Shift_Del_p.H1018fs|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.H1016fs|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1142					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AATTACAGAATGTGTGTACTCC	0.480													33	168	---	---	---	---					
