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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DDX24	57062	broad.mit.edu	37	14	94528925	94528925	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:94528925G>A	uc001ycj.3	-	2	860	c.761C>T	c.(760-762)gCg>gTg	p.A254V	DDX24_uc010twq.2_Missense_Mutation_p.A211V|DDX24_uc010twr.2_Missense_Mutation_p.A4V	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	254	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTGCAACACCGCATGAATCAT	0.458000														70			20		0	0	0.062417	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806608	97806608	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:97806608G>A	uc011bgs.2	+	0	592	c.592G>A	c.(592-594)Gca>Aca	p.A198T		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A198T(4)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATCTATTAACGCACTAATGAT	0.289000														30			24		0	0	0.076483	0	0
UBLCP1	134510	broad.mit.edu	37	5	158697549	158697549	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:158697549C>A	uc003lxq.2	+	4	672	c.346C>A	c.(346-348)Ctg>Atg	p.L116M		NM_145049	NP_659486	Q8WVY7	UBCP1_HUMAN	Homo sapiens ubiquitin-like domain containing CTD phosphatase 1 (UBLCP1), mRNA.	116						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAAACCTACTGAAAATTTC	0.333000														79			9		1.12685e-05	1.2093e-05	0.047766	1	0
FSTL5	56884	broad.mit.edu	37	4	162577517	162577517	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:162577517T>C	uc003iqh.3	-	6	1293	c.857A>G	c.(856-858)aAt>aGt	p.N286S	FSTL5_uc003iqi.3_Missense_Mutation_p.N285S|FSTL5_uc010iqv.3_Missense_Mutation_p.N285S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	286	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAGAATAATATTGTTCCTTTT	0.353000														22			13		0	0	0.105934	0	0
VAV1	7409	broad.mit.edu	37	19	6833209	6833209	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:6833209C>T	uc002mfu.1	+	15	1620	c.1523C>T	c.(1522-1524)cCg>cTg	p.P508L	VAV1_uc010xjh.1_Missense_Mutation_p.P476L|VAV1_uc010dva.1_Missense_Mutation_p.P508L|VAV1_uc002mfv.1_Missense_Mutation_p.P453L	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	508					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AACATCTATCCGGAGAATGCC	0.438000														28			16		0	0	0.028581	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703623	48703623	+	Silent	SNP	A	G	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:48703623A>G	uc002irk.1	+	37	7017	c.6645A>G	c.(6643-6645)ttA>ttG	p.L2215L	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Silent_p.L2099L|CACNA1G_uc002irm.1_Silent_p.L2136L|CACNA1G_uc002irn.1_Silent_p.L2081L|CACNA1G_uc002iro.1_Silent_p.L2088L|CACNA1G_uc002irp.1_Silent_p.L2170L|CACNA1G_uc002irq.1_Silent_p.L2192L|CACNA1G_uc002irr.1_Silent_p.L2122L|CACNA1G_uc002irs.1_Silent_p.L2159L|CACNA1G_uc002irt.1_Silent_p.L2104L|CACNA1G_uc002iru.1_Silent_p.L2181L|CACNA1G_uc002irv.1_Silent_p.L2111L|CACNA1G_uc002irw.1_Silent_p.L2144L|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Silent_p.L1983L|CACNA1G_uc002ish.1_Silent_p.L1990L|CACNA1G_uc002isi.1_Silent_p.L1978L|CACNA1G_uc002irz.1_Silent_p.L2028L|CACNA1G_uc002isa.1_Silent_p.L2001L|CACNA1G_uc002isd.1_Silent_p.L2010L|CACNA1G_uc002isb.1_Silent_p.L2042L|CACNA1G_uc002isc.1_Silent_p.L2117L|CACNA1G_uc002ise.1_Silent_p.L2038L|CACNA1G_uc002isf.1_Silent_p.L2065L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2215					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGCAGCTTAGAGTTGGACA	0.642000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			12		0	0	0.024245	0	0
RUFY2	55680	broad.mit.edu	37	10	70141155	70141155	+	Splice_Site	SNP	T	C	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:70141155T>C	uc001job.3	-	11	1372	c.1045_splice	c.e11-1	p.D349_splice	RUFY2_uc001jnz.1_Splice_Site|RUFY2_uc001joc.3_Splice_Site_p.D280_splice|RUFY2_uc010qiw.2_Splice_Site_p.D256_splice|RUFY2_uc001jod.1_Splice_Site_p.D314_splice	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	363						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ATTCTCTACATCCTGCAATTT	0.358000														116			76		0	0	0.048971	0	0
FLG	2312	broad.mit.edu	37	1	152282972	152282972	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:152282972C>G	uc001ezu.1	-	2	4426	c.4390G>C	c.(4390-4392)Gga>Cga	p.G1464R	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1464	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGTCTTCCTCCAGTGCTG	0.572000									Ichthyosis					199			16		0	0	0.028581	0	0
NF1	4763	broad.mit.edu	37	17	29663350	29663350	+	Splice_Site	SNP	G	C	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:29663350G>C	uc002hgg.3	+	41	6390	c.6007_splice	c.e41-1	p.I2003_splice	NF1_uc002hgh.3_Splice_Site_p.I1982_splice|NF1_uc010cso.3_Splice_Site_p.I191_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2003					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTCAACTAGATTACAGATC	0.328000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				68			4		0	0	0.029380	0	0
SSTR2	6752	broad.mit.edu	37	17	71166516	71166516	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:71166516C>G	uc002jje.3	+	1	1418	c.1058C>G	c.(1057-1059)aCc>aGc	p.T353S	SSTR2_uc021ucm.1_Missense_Mutation_p.T353S	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	353					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGAATGAGACCACGGAGACC	0.547000														53			11		0	0	0.069234	0	0
KIT	3815	broad.mit.edu	37	4	55573431	55573431	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:55573431T>A	uc010igr.3	+	5	1180	c.1093T>A	c.(1093-1095)Tct>Act	p.S365T	KIT_uc010igs.3_Missense_Mutation_p.S365T	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	365	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTATCCCAAGTCTGAGAATGA	0.403000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					44			18		0	0	0.062417	0	0
MRPL3	11222	broad.mit.edu	37	3	131190117	131190117	+	Silent	SNP	A	C	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:131190117A>C	uc011blp.2	-	7	912	c.717T>G	c.(715-717)ggT>ggG	p.G239G	MRPL3_uc011blo.2_Silent_p.G107G|MRPL3_uc003eoh.3_Silent_p.G212G	NM_007208	NP_009139	P09001	RM03_HUMAN	Homo sapiens mitochondrial ribosomal protein L3 (MRPL3), nuclear gene encoding mitochondrial protein, mRNA.	212					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GAAAACCTTTACCAATACTGA	0.403000														77			3		0	0	0.009096	0	0
ATAD2	29028	broad.mit.edu	37	8	124368657	124368657	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr8:124368657G>A	uc003yqh.4	-	12	1726	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W	ATAD2_uc011lii.2_Missense_Mutation_p.R331W|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.R540W	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGCTTGACCGTACTGGAGCC	0.418000														45			5		0	0	0.014758	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914572	147914572	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:147914572G>C	uc003weu.2	+	18	3719	c.3203G>C	c.(3202-3204)aGc>aCc	p.S1068T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1068	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCTACATCAGCTCCTTCACC	0.557000										HNSCC(39;0.1)				95			5		0	0	0.014758	0	0
GPR115	221393	broad.mit.edu	37	6	47682356	47682356	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:47682356A>G	uc003oyz.1	+	6	1546	c.1546A>G	c.(1546-1548)Ata>Gta	p.I516V	GPR115_uc003oza.1_Missense_Mutation_p.I459V|GPR115_uc003ozb.1_Missense_Mutation_p.I459V|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	459					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTGGTTTATCATAGGCTCTCA	0.458000														307			21		0	0	0.062417	0	0
NOP2	4839	broad.mit.edu	37	12	6675419	6675419	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:6675419C>A	uc021qtw.1	-	4	490	c.310G>T	c.(310-312)Gca>Tca	p.A104S	NOP2_uc009zeq.2_5'Flank|NOP2_uc021qtx.1_Missense_Mutation_p.A104S|NOP2_uc021qty.1_Missense_Mutation_p.A108S|NOP2_uc021qtz.1_Missense_Mutation_p.A108S|NOP2_uc021qua.1_Missense_Mutation_p.A108S	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	108					positive regulation of cell proliferation|rRNA processing	nucleolus	RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTGCCAGGTGCTGGGCGCTTC	0.557000														50			4		0.00909568	0.00930721	0.009096	1	0
OR2H2	7932	broad.mit.edu	37	6	29556084	29556084	+	Silent	SNP	C	T	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:29556084C>T	uc003nmr.1	+	0	402	c.363C>T	c.(361-363)taC>taT	p.Y121Y	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	121					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TTGATCGCTACGTGGCTGTCT	0.577000														82			4		0	0	0.009096	0	0
RREB1	6239	broad.mit.edu	37	6	7229828	7229828	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:7229828C>T	uc003mxb.3	+	9	1988	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	RREB1_uc021yky.1_Missense_Mutation_p.A499V|RREB1_uc003mxc.3_Missense_Mutation_p.A499V|RREB1_uc010jnx.3_Missense_Mutation_p.A499V|RREB1_uc021ykz.1_Missense_Mutation_p.A499V|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	499	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACTGCAGGCGATCTTCAAG	0.642000														211			37		0	0	0.039052	0	0
FSTL5	56884	broad.mit.edu	37	4	162577525	162577525	+	Missense_Mutation	SNP	T	A	A	rs61746784		TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:162577525T>A	uc003iqh.3	-	6	1285	c.849A>T	c.(847-849)aaA>aaT	p.K283N	FSTL5_uc003iqi.3_Missense_Mutation_p.K282N|FSTL5_uc010iqv.3_Missense_Mutation_p.K282N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	283	Ig-like 1.					extracellular region	calcium ion binding	p.W282R(1)|p.W282*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATTGTTCCTTTTCCAGATAA	0.353000														27			14		0	0	0.020292	0	0
MCC	4163	broad.mit.edu	37	5	112439958	112439958	+	Silent	SNP	G	T	T	rs142794653	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:112439958G>T	uc003kql.4	-	6	1538	c.1122C>A	c.(1120-1122)tcC>tcA	p.S374S	MCC_uc003kqj.4_Silent_p.S184S|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Silent_p.S184S|MCC_uc010jcd.1_Silent_p.S146S	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	184					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCTCGGCCACGGAGAGGCTGC	0.572000														101			24		2.49675e-24	2.89097e-24	0.034045	1	0
OR4M1	441670	broad.mit.edu	37	14	20248557	20248557	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:20248557G>T	uc010tku.2	+	0	76	c.76G>T	c.(76-78)Gtc>Ttc	p.V26F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTCCAACTAGTCCTATTTGT	0.388000														276			29		4.40665e-25	5.24033e-25	0.041601	1	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	C	C			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000														40			4		0	0	0.014758	0	0
LAMA3	3909	broad.mit.edu	37	18	21474271	21474271	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:21474271A>T	uc002kuq.3	+	42	5506	c.5420A>T	c.(5419-5421)aAc>aTc	p.N1807I	LAMA3_uc002kur.3_Missense_Mutation_p.N1807I|LAMA3_uc002kus.4_Missense_Mutation_p.N198I|LAMA3_uc002kut.4_Missense_Mutation_p.N198I|Mir_548_uc021uif.1_5'Flank	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1807	Domain III A.|Laminin EGF-like 15; truncated.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTGCATAAACCAAGAACCC	0.378000														54			4		0	0	0.021553	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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									55			34		0	0	0.074837	0	0
PTX4	390667	broad.mit.edu	37	16	1537926	1537926	+	Missense_Mutation	SNP	C	T	T	rs150305846	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:1537926C>T	uc010uvf.2	-	1	172	c.172G>A	c.(172-174)Gcc>Acc	p.A58T		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	63						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TAGTTGCTGGCGATGTTCTGC	0.647000														151			6		0	0	0.029380	0	0
IQGAP1	8826	broad.mit.edu	37	15	91030731	91030731	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:91030731A>G	uc002bpl.1	+	32	4266	c.4165A>G	c.(4165-4167)Aaa>Gaa	p.K1389E	IQGAP1_uc010uqg.1_Missense_Mutation_p.K10E	NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1389	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTCAGTACAAAACGTTTAAT	0.463000														20			7		0	0	0.029380	0	0
ALPK1	80216	broad.mit.edu	37	4	113352721	113352721	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:113352721C>A	uc003ian.4	+	10	2245	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	ALPK1_uc003iap.4_Missense_Mutation_p.P673H|ALPK1_uc011cfx.2_Missense_Mutation_p.P595H|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.P501H	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	673							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCCTTGACACCCTTCTCGCCT	0.493000														42			14		3.52763e-06	3.88039e-06	0.033300	1	0
RXRG	6258	broad.mit.edu	37	1	165389141	165389141	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:165389141T>A	uc001gda.3	-	2	870	c.408A>T	c.(406-408)aaA>aaT	p.K136N	RXRG_uc021pea.1_Missense_Mutation_p.K13N	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	136	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CACAGATGTGTTTAACCAGAG	0.537000														61			4		0	0	0.009096	0	0
RETNLB	84666	broad.mit.edu	37	3	108475916	108475916	+	Silent	SNP	G	T	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:108475916G>T	uc003dxh.2	-	0	215	c.117C>A	c.(115-117)ctC>ctA	p.L39L		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	39					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CTAGACTGTTGAGAACATCCT	0.498000														19			4		0.00024832	0.000260145	0.009096	1	0
FUT8	2530	broad.mit.edu	37	14	66136042	66136042	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:66136042G>A	uc001xin.3	+	6	2406	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	FUT8_uc001xio.3_Missense_Mutation_p.V227M|FUT8_uc010tsp.2_Missense_Mutation_p.V64M|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.V227M|FUT8_uc001xiq.3_Missense_Mutation_p.V98M|FUT8_uc021ruy.1_Missense_Mutation_p.V98M	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	227					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCTCCATCATGTGGTCTACTG	0.473000														58			4		0	0	0.009096	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178820268	178820268	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:178820268T>G	uc001gma.3	-	5	1948	c.1472A>C	c.(1471-1473)gAc>gCc	p.D491A	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.D491A	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	491	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CTCTCTTCAGTCAATAGGCTT	0.388000														58			3		0	0	0.004672	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83212	83212	+	Splice_Site	SNP	C	T	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chrGL000219.1:83212C>T	uc022brb.1	-	4	454	c.141_splice	c.e4+1	p.K47_splice	LOC283788_uc011mfq.2_Splice_Site					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GTCATCGTTACCTTGATCATT	0.348000														55			4		0	0	0.069234	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020984	46020984	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr21:46020984C>T	uc002zfn.4	+	1	473	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	155	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CACCTCCTCCCCCTGCCAGCA	0.592000														37			19		0	0	0.091800	0	0
FUBP1	8880	broad.mit.edu	37	1	78444677	78444678	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:78444677_78444678delAT	uc001dii.3	-	0	100_101	c.11_12delAT	c.(10-12)tatfs	p.Y4fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.Y4fs|DNAJB4_uc010orn.2_5'Flank	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	4					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCACTGTTGAATAGTCTGCCAT	0.559			"""F, N"""		oligodendroglioma								---	7	---	---	10	---					
FRMD4B	23150	broad.mit.edu	37	3	69230517	69230518	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:69230517_69230518delTT	uc003dnv.2	-	20	2673_2674	c.2383_2384delAA	c.(2383-2385)aagfs	p.K795fs	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Frame_Shift_Del_p.K447fs|FRMD4B_uc011bga.1_Frame_Shift_Del_p.K639fs	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	795						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTCCTGACTCTTTGAGTAAACA	0.446													---	49	---	---	11	---					
GXYLT2	727936	broad.mit.edu	37	3	73024258	73024258	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:73024258delG	uc003dpg.3	+	6	1280	c.1280delG	c.(1279-1281)aggfs	p.R427fs		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	Homo sapiens glucoside xylosyltransferase 2 (GXYLT2), mRNA.	427					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						ACAATGAAAAGGGCTTATGAG	0.413													---	88	---	---	9	---					
C8orf47	203111	broad.mit.edu	37	8	99101783	99101784	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr8:99101783_99101784insA	uc003yih.1	+	1	686_687	c.538_539insA	c.(538-540)caafs	p.Q180fs	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	180										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TGAGAATCCACAAACTGCTGCA	0.520													---	28	---	---	10	---					
KRT3	3850	broad.mit.edu	37	12	53187894	53187896	+	Splice_Site	DEL	CTT	-	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:53187894_53187896delCTT	uc001say.3	-	2	932	c.866_splice	c.e2+1	p.K289_splice		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	289	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTGTCACTCACTTCTTCTTGAAG	0.591													---	123	---	---	10	---					
FBXW10	10517	broad.mit.edu	37	17	18653309	18653310	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:18653309_18653310insT	uc002gul.3	+	2	1177_1178	c.945_946insT	c.(943-948)atctttfs	p.I315fs	FBXW10_uc002guj.3_Intron|FBXW10_uc002guk.3_Intron|FBXW10_uc010cqh.2_Intron	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CTGGGTCCATCTTTTTTTTTCC	0.535													---	133	---	---	7	---					
SS18	6760	broad.mit.edu	37	18	23632625	23632626	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:23632625_23632626delAT	uc002kvm.3	-	4	647_648	c.569_570delAT	c.(568-570)tatfs	p.Y190fs	SS18_uc002kvn.3_Frame_Shift_Del_p.Y190fs|SS18_uc010xbf.2_Frame_Shift_Del_p.Y108fs|SS18_uc010xbg.2_Frame_Shift_Del_p.Y138fs|SS18_uc010xbh.2_Frame_Shift_Del_p.Y138fs|SS18_uc010xbi.2_Frame_Shift_Del_p.Y167fs|SS18_uc010dlz.1_Frame_Shift_Del_p.Y138fs	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	190	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTCTGGGACCATAGTTTCCCAT	0.426			T	"""SSX1,  SSX2"""	synovial sarcoma								---	127	---	---	32	---					
