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
TPTE2P6	374491	broad.mit.edu	37	13	25161457	25161457	+	RNA	SNP	G	G	A	rs1851732	by1000genomes	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr13:25161457G>A	ENST00000453498.1	+	0	981				TPTE2P6_ENST00000440905.1_RNA																							TTATTTATTCGATTCGTGGTA	0.378000													4	45					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56525276	56525276	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:56525276C>T	ENST00000394048.5	+	6	994	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	244						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTTTTGCGGGTGATACT	0.517000													4	180					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100348461	100348461	+	RNA	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr7:100348461G>A	ENST00000542585.1	+	0	1611				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGTCTCAGCGCCCTTACTGG	0.622000													17	21					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280155	152280155	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:152280155G>A	ENST00000368799.1	-	3	7242	c.7207C>T	c.(7207-7209)Cgg>Tgg	p.R2403W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2403	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)			CCTGCTGACCGGCCACGTGTG	0.597000									Ichthyosis				131	89					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41012265	41012265	+	Silent	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:41012265C>T	ENST00000352632.3	+	13	1874	c.1788C>T	c.(1786-1788)gcC>gcT	p.A596A	SPTBN4_ENST00000344104.3_Silent_p.A596A|SPTBN4_ENST00000595535.1_Silent_p.A596A|SPTBN4_ENST00000338932.3_Silent_p.A596A|SPTBN4_ENST00000598249.1_Silent_p.A596A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	596					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCTCAATGCCGCTGCCCTGC	0.632000													15	8					0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7481180	7481180	+	Missense_Mutation	SNP	T	T	G			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:7481180T>G	ENST00000293831.8	+	9	958	c.942T>G	c.(940-942)atT>atG	p.I314M	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.I314M|EIF4A1_ENST00000581808.1_3'UTR|EIF4A1_ENST00000582746.1_Missense_Mutation_p.I314M	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	314	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GAGACGTGATTATGAGGGAGT	0.498000													19	46					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218559	244218559	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:244218559C>T	ENST00000358704.4	+	2	1632	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		CAGACACATTCGCAAGTTCCA	0.577000													22	41					0	0	1	0	0
C2orf76	130355	broad.mit.edu	37	2	120078765	120078765	+	Missense_Mutation	SNP	G	G	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:120078765G>C	ENST00000409466.2	-	4	670	c.149C>G	c.(148-150)aCc>aGc	p.T50S	C2orf76_ENST00000409877.1_Missense_Mutation_p.T50S|C2orf76_ENST00000409523.1_Missense_Mutation_p.T50S|C2orf76_ENST00000334816.7_Missense_Mutation_p.T50S			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	50										large_intestine(1)|lung(3)|pancreas(1)	5						TGGCAGGTTGGTCCTTAAAGG	0.269000													17	27					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71896841	71896841	+	Silent	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:71896841C>T	ENST00000258104.3	+	50	5909	c.5632C>T	c.(5632-5634)Ctg>Ttg	p.L1878L	DYSF_ENST00000410020.3_Silent_p.L1917L|DYSF_ENST00000409582.3_Silent_p.L1916L|DYSF_ENST00000409366.1_Silent_p.L1900L|DYSF_ENST00000394120.2_Silent_p.L1879L|DYSF_ENST00000409651.1_Silent_p.L1910L|DYSF_ENST00000410041.1_Silent_p.L1896L|DYSF_ENST00000413539.2_Silent_p.L1909L|DYSF_ENST00000409744.1_Silent_p.L1886L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.L1899L|DYSF_ENST00000409762.1_Silent_p.L1895L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1878						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTTCGACTACCTGCCAGCTGA	0.512000													25	50					0	0	1	0	0
EDNRA	1909	broad.mit.edu	37	4	148407074	148407074	+	Missense_Mutation	SNP	T	T	G			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:148407074T>G	ENST00000324300.5	+	2	756	c.241T>G	c.(241-243)Tac>Gac	p.Y81D	EDNRA_ENST00000506066.1_Missense_Mutation_p.Y81D|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000358556.4_Missense_Mutation_p.Y81D|EDNRA_ENST00000339690.5_Missense_Mutation_p.Y81D	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	81					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	AGCTTTCAAATACATTAACAC	0.418000													4	118					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66618626	66618626	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr15:66618626C>T	ENST00000319194.5	+	12	2137	c.1876C>T	c.(1876-1878)Cac>Tac	p.H626Y	DIS3L_ENST00000319212.4_Missense_Mutation_p.H709Y|RP11-352G18.2_ENST00000565993.1_RNA	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	709					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTGCGCCAGCACCCTCCTCC	0.537000													8	64					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95494763	95494763	+	RNA	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:95494763T>C	ENST00000432432.2	-	0	1181					NR_040113.1																						GCTCTCAATGTCTGTACATTC	0.323000													67	115					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6596402	6596402	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:6596402G>A	ENST00000285599.3	+	7	1036	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T	MAN2B2_ENST00000504248.1_Missense_Mutation_p.A283T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	334					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGCCCTGCACGCTCTCAATGT	0.622000													8	23					0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154246290	154246290	+	Translation_Start_Site	SNP	A	A	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:154246290A>T	ENST00000532105.1	+	0	150				HAX1_ENST00000483970.2_Silent_p.L127L|HAX1_ENST00000328703.7_Silent_p.L119L|HAX1_ENST00000457918.2_Silent_p.L71L			O00165	HAX1_HUMAN	HCLS1 associated protein X-1							actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGAGAGACTACGGGAGGGAC	0.512000									Kostmann syndrome				4	82					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60650604	60650604	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:60650604G>A	ENST00000582809.1	+	13	1253	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	TLK2_ENST00000326270.9_Missense_Mutation_p.E333K|TLK2_ENST00000343388.7_Missense_Mutation_p.E301K|TLK2_ENST00000346027.5_Missense_Mutation_p.E333K|TLK2_ENST00000542523.1_Missense_Mutation_p.E301K			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	333					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTCACAGAGGGAAGAGATAGA	0.428000													9	11					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55797924	55797924	+	Silent	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr11:55797924T>C	ENST00000313555.1	+	1	30	c.30T>C	c.(28-30)acT>acC	p.T10T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCATGCCAACTGAGTTCCTAT	0.383000													18	47					0	0	1	0	0
RP11-467N20.5	0	broad.mit.edu	37	15	23412171	23412171	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr15:23412171C>T	ENST00000558241.1	-	2	376	c.286G>A	c.(286-288)Ggt>Agt	p.G96S																	endometrium(1)	1						TGGCAACCACCAGAAGTGGTT	0.532000													29	30					0	0	1	0	0
FAM207A	85395	broad.mit.edu	37	21	46363734	46363734	+	Missense_Mutation	SNP	G	G	A	rs140146705	byFrequency	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr21:46363734G>A	ENST00000291634.6	+	2	313	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	FAM207A_ENST00000397826.3_Intron	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN	family with sequence similarity 207, member A	89																	TGCACGGAGCGTCCCTTCCAT	0.612000													3	61					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								21	38					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17396326	17396326	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17396326G>A	ENST00000394458.3	+	7	1739	c.1463G>A	c.(1462-1464)gGc>gAc	p.G488D	ANKLE1_ENST00000404085.1_Missense_Mutation_p.G484D|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G451D|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.G462D	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	488						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TTCTACGTGGGCAAAGGGACG	0.607000													4	100					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135911420	135911420	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:135911420T>C	ENST00000264158.8	+	19	2306	c.2263T>C	c.(2263-2265)Ttt>Ctt	p.F755L	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.F711L|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.F755L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	755						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGGAGACTCTTTGATGATAC	0.418000													4	56					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19414811	19414811	+	Missense_Mutation	SNP	A	A	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:19414811A>C	ENST00000334782.5	-	5	592	c.580T>G	c.(580-582)Tgg>Ggg	p.W194G	SUGP1_ENST00000247001.5_Intron|SUGP1_ENST00000585763.1_Intron			Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	0					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						ACAAAACACCATGACGAGGGG	0.587000													72	94					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114899934	114899934	+	Silent	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:114899934G>A	ENST00000315366.7	-	1	923	c.57C>T	c.(55-57)gtC>gtT	p.V19V	ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Silent_p.V19V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	19						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTCCAGGACAGACACAGGCCT	0.627000													6	152					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39911568	39911568	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chrX:39911568C>A	ENST00000342274.4	-	15	5322	c.4960G>T	c.(4960-4962)Gaa>Taa	p.E1654*	BCOR_ENST00000378444.4_Nonsense_Mutation_p.E1688*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1654*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1636*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E531*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1688					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTGACAATTTCCACGTTTGGA	0.438000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						23	4					1.1804e-14	1.1804e-14	1	1	0
APEX1	328	broad.mit.edu	37	14	20925577	20925577	+	Missense_Mutation	SNP	C	C	G			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr14:20925577C>G	ENST00000216714.3	+	5	1135	c.867C>G	c.(865-867)caC>caG	p.H289Q	APEX1_ENST00000398030.4_Missense_Mutation_p.H289Q|APEX1_ENST00000555414.1_Missense_Mutation_p.H289Q|APEX1_ENST00000557054.1_3'UTR	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	289	Mitochondrial targeting sequence (MTS).				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TGTTGTCCCACTCTCTGTTAC	0.488000								Other BER factors					58	24					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103900609	103900609	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr10:103900609C>T	ENST00000278070.2	+	5	2383	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F	PPRC1_ENST00000413464.2_Missense_Mutation_p.L782F	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	782	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTGGCCTAGCCTTCCAGAGAC	0.582000													38	40					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159657261	159657261	+	Missense_Mutation	SNP	C	C	G			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:159657261C>G	ENST00000297267.9	+	12	4182	c.3982C>G	c.(3982-3984)Cca>Gca	p.P1328A	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1265A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1328						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TAATGGCAGACCAAATGTAGA	0.408000													14	17					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98927458	98927458	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:98927458G>A	ENST00000266732.4	+	4	1661	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding	p.E475*(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTAGGTCTAGAAGTGGCTAA	0.388000													29	41					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196887466	196887466	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:196887466C>T	ENST00000367416.2	+	10	1801	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	CFHR4_ENST00000367418.2_Missense_Mutation_p.A309V|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.A309V|CFHR4_ENST00000608469.1_Missense_Mutation_p.A179V	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GGATATAATGCGAATACATCA	0.338000													33	86					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													3	30					0	0	1	0	0
SPRTN	83932	broad.mit.edu	37	1	231488995	231488995	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:231488995T>C	ENST00000295050.7	+	5	1694	c.1358T>C	c.(1357-1359)aTg>aCg	p.M453T		NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3			SprT-like N-terminal domain																		CAGAGCAAAATGGTTAATTGC	0.398000													25	45					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150396333	150396333	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr3:150396333G>A	ENST00000295910.6	-	10	1172	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	FAM194A_ENST00000491361.1_Missense_Mutation_p.R228C	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	374										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTTTTTAAGCGCTTTGAATCT	0.269000													18	45					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547000													3	41					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21245084	21245084	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr16:21245084C>T	ENST00000311620.5	+	1	99	c.26C>T	c.(25-27)gCt>gTt	p.A9V		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	9										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CACCAAGCTGCTAGTGATAGT	0.488000													49	81					0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917640	186917640	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr3:186917640G>A	ENST00000312295.4	+	2	604	c.574G>A	c.(574-576)Gag>Aag	p.E192K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	192					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGAGTTCTGCGAGGCCTGCCA	0.701000													27	16					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17397249	17397249	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17397249C>T	ENST00000394458.3	+	9	2012	c.1736C>T	c.(1735-1737)cCa>cTa	p.P579L	ANKLE1_ENST00000404085.1_Missense_Mutation_p.P575L|ANKLE1_ENST00000594072.1_Missense_Mutation_p.P542L|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.H507Y	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	579						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCAGGCTGGCCACCTGCTCGT	0.637000													16	21					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152419955	152419955	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:152419955C>T	ENST00000440973.1	+	10	2012	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	ESR1_ENST00000406599.1_Missense_Mutation_p.R287C|ESR1_ENST00000206249.3_Missense_Mutation_p.R548C|ESR1_ENST00000338799.5_Missense_Mutation_p.R548C|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.R436C|ESR1_ENST00000443427.1_Missense_Mutation_p.R548C	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	548	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GGACGCCCACCGCCTACATGC	0.577000													12	17					0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047639	46047639	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr21:46047639T>C	ENST00000397911.3	+	1	600	c.551T>C	c.(550-552)gTg>gCg	p.V184A	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	184	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TCCTACTGTGTGCCTGTCTGC	0.597000													143	215					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692097	116692097	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr11:116692097T>C	ENST00000357780.3	-	3	791	c.677A>G	c.(676-678)tAt>tGt	p.Y226C		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GTCCTGAGCATAGGGAGCCAG	0.592000													7	164					0	0	1	0	0
MRPL45	84311	broad.mit.edu	37	17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	rs139299251	by1000genomes	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:36453192T>G	ENST00000312513.5	+	1	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	15					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582000													3	50					0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954500	10954500	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:10954500C>T	ENST00000240687.2	-	1	726	c.670G>A	c.(670-672)Gac>Aac	p.D224N		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	224					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GTGCTGGGGTCTCTGCACCCT	0.517000													23	22					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17688023	17688023	+	Silent	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17688023G>A	ENST00000252599.4	+	7	1089	c.969G>A	c.(967-969)gaG>gaA	p.E323E		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		CGCCCGCAGAGCCCTCCCGCT	0.667000													7	18					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698690	17698690	+	Silent	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:17698690G>A	ENST00000399080.2	-	1	1016	c.993C>T	c.(991-993)taC>taT	p.Y331Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	331										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGAGTGATGGGTAGTCATTTT	0.343000													6	81					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151640951	151640951	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:151640951G>A	ENST00000368843.3	+	7	1109	c.989G>A	c.(988-990)cGt>cAt	p.R330H	SNX27_ENST00000368838.1_Missense_Mutation_p.R237H|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000458013.2_Missense_Mutation_p.R330H	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	330	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTTAGTACGTAAATTGGCA	0.378000													41	66					0	0	1	0	0
AC073321.4	0	broad.mit.edu	37	2	217475010	217475010	+	RNA	DEL	G	G	-			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:217475010delG	ENST00000441803.1	+	0	195																											ttttttttttGAAAGAAAGGC	0.393													2	4	---	---	---	---					
DST	667	broad.mit.edu	37	6	56484991	56484994	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:56484991_56484994delTCTT	ENST00000370765.6	-	23	3945_3948	c.3838_3841delAAGA	c.(3838-3843)aagagafs	p.KR1280fs	DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	4932					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)			TCATTGTCTCTCTTTCTTCTTAAT	0.338													32	49	---	---	---	---					
ZNF733P	643955	broad.mit.edu	37	7	62752768	62752768	+	RNA	DEL	T	T	-			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr7:62752768delT	ENST00000331425.6	-	0	667					NR_003952.1																						GTATGAATTATTTTATGTGTA	0.383													9	20	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													5	9	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139407856	139407856	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr9:139407856delC	ENST00000277541.6	-	14	2416	c.2341delG	c.(2341-2343)gagfs	p.E781fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	781	EGF-like 20.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGAAGCCCTCCCGGCAGGTG	0.607			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			10	18	---	---	---	---					
HMGB3P5	645360	broad.mit.edu	37	10	112210758	112210759	+	RNA	INS	-	-	A	rs12220479		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr10:112210758_112210759insA	ENST00000609514.1	-	0	69																											TGATGCAGaagaaaaaaaaaaa	0.411													5	8	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	84036	84053	+	RNA	DEL	GGGAGCCTGGAAGCACAC	GGGAGCCTGGAAGCACAC	-	rs3743872	by1000genomes	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr16:84036_84053delGGGAGCCTGGAAGCACAC	ENST00000568710.1	-	0	349																											CTTGTCTCTGGGGAGCCTGGAAGCACACGGGCTGGCTA	0.633													6	13	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1219351	1219351	+	Frame_Shift_Del	DEL	G	G	-	rs137853081		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:1219351delG	ENST00000326873.7	+	3	1576	c.403delG	c.(403-405)ggcfs	p.G135fs	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	135	Protein kinase.		G -> R (in melanoma; sporadic malignant; somatic mutation).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.G135R(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGTGTGTGGCATGCAGGA	0.682		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			2	4	---	---	---	---					
