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
DCHS2	54798	broad.mit.edu	37	4	155256174	155256174	+	Silent	SNP	C	C	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr4:155256174C>G	uc003inw.2	-	7	1062	c.1062G>C	c.(1060-1062)ggG>ggC	p.G354G	DCHS2_uc003inx.2_Silent_p.G853G	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	354	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G353G(2)|p.G354G(2)|p.G853G(1)|p.G354V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGCTGTGAGCCCACCACCGT	0.423000													28	132					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10918726	10918726	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:10918726A>C	uc002ras.3	+	11	1101	c.992A>C	c.(991-993)aAc>aCc	p.N331T	ATP6V1C2_uc002rat.3_Missense_Mutation_p.N285T	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	331					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.N285T(1)|p.N331T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTCAAGGTGAACTTCAGTGAA	0.602000													21	100					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10265299	10265299	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:10265299C>T	uc002mng.3	-	19	1927	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	DNMT1_uc010xlc.2_Missense_Mutation_p.D599N|DNMT1_uc002mnh.3_Missense_Mutation_p.D478N|DNMT1_uc010xld.2_Missense_Mutation_p.D583N	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	583	Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	p.D583N(3)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTGATCAGGTCCCGCATGCAG	0.622000													25	98					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93803647	93803647	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:93803647T>C	uc001pep.2	+	5	1328	c.1171T>C	c.(1171-1173)Tgg>Cgg	p.W391R	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	391	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.W392R(1)|p.W391R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAAAATTCTTTGGGATTATGC	0.438000													15	33					0	0	1	0	0
RTN4R	65078	broad.mit.edu	37	22	20230164	20230164	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr22:20230164G>T	uc002zrv.3	-	1	693	c.492C>A	c.(490-492)aaC>aaA	p.N164K	RTN4R_uc002zru.3_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	Homo sapiens reticulon 4 receptor (RTN4R), mRNA.	164					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	p.N164K(2)		lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					CCTGCAGCGCGTTGTCCTGCA	0.687000													11	52					0	0	1	0	0
AX747550	0	broad.mit.edu	37	5	115298232	115298232	+	Missense_Mutation	SNP	G	G	C	rs9326980	by1000genomes	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr5:115298232G>C	uc003krn.1	-	0	749	c.85C>G	c.(85-87)Cga>Gga	p.R29G	AQPEP_uc003kro.3_5'UTR|AQPEP_uc003krp.3_Non-coding_Transcript					Homo sapiens cDNA FLJ35126 fis, clone PLACE6008285.																		GGCAGGGGTCGCAGCACTGAA	0.652000													3	14					0	0	1	0	0
HSPA1B	3304	broad.mit.edu	37	6	31797488	31797488	+	Silent	SNP	C	C	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:31797488C>G	uc003nxk.2	+	0	1977	c.1761C>G	c.(1759-1761)gcC>gcG	p.A587A		NM_005346	NP_005337	P08107	HSP71_HUMAN	Homo sapiens heat shock 70kDa protein 1B (HSPA1B), mRNA.	587					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein N-terminus binding|protein binding involved in protein folding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	p.A587A(2)		breast(1)|large_intestine(1)|prostate(1)	3						ACACCTTGGCCGAGAAGGACG	0.597000													9	48					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31427932	31427932	+	Missense_Mutation	SNP	G	G	A	rs143518464		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:31427932G>A	uc010cap.1	+	19	2516	c.2467G>A	c.(2467-2469)Gca>Aca	p.A823T	ITGAD_uc002ebv.1_Missense_Mutation_p.A822T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	822					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.A822T(3)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTACTATCCAGCAGGGCTGTC	0.622000													41	132					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6431629	6431629	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr7:6431629A>G	uc003spx.3	+	2	423	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	RAC1_uc003spw.3_Missense_Mutation_p.Q61R|RAC1_uc021zzg.1_Missense_Mutation_p.Q17R	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	61					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.Q61R(2)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	ACAGCTGGACAAGAAGATTAT	0.403000													12	226					0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36927000	36927000	+	Missense_Mutation	SNP	G	G	A	rs139393851		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:36927000G>A	uc021yzd.1	+	2	474	c.251G>A	c.(250-252)cGc>cAc	p.R84H	PI16_uc003omz.1_Missense_Mutation_p.R84H|PI16_uc003ona.3_Missense_Mutation_p.R84H|PI16_uc011dts.1_5'Flank	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	84						extracellular region|integral to membrane	peptidase inhibitor activity	p.R84H(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGCGCGGGCGCCGCGGCGAG	0.667000													9	14					0	0	1	0	0
C1QL3	389941	broad.mit.edu	37	10	16562941	16562941	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr10:16562941T>A	uc001ioj.1	-	0	1064	c.124A>T	c.(124-126)Agc>Tgc	p.S42C		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	Homo sapiens complement component 1, q subcomponent-like 3 (C1QL3), mRNA.	42						collagen		p.S42C(2)		breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCAGCGGTGCTGGGCGCCTTG	0.736000													2	3					0	0	1	0	0
C16orf54	283897	broad.mit.edu	37	16	29755663	29755663	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:29755663G>A	uc002dtp.2	-	1	719	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.	204						integral to membrane		p.R204W(2)		breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AAGGTGACCCGTGGCTGGAGG	0.667000													6	31					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53005086	53005086	+	Missense_Mutation	SNP	G	G	A	rs150273425		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr12:53005086G>A	uc001sas.3	-	5	1047	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	338	Coil 2.|Rod.					keratin filament	structural molecule activity	p.R338W(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCCCATGCCGGCCGGCTGCT	0.537000													21	107					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86122	86122	+	RNA	SNP	G	G	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chrGL000211.1:86122G>T	uc003bnz.1	+	5		c.870G>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GCTATGAAGAGTGCACACAGG	0.468000													5	22					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396564	220396564	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:220396564G>A	uc002vlz.3	+	1	1222	c.1048G>A	c.(1048-1050)Ggc>Agc	p.G350S	ASIC4_uc010fwi.2_Missense_Mutation_p.G350S|ASIC4_uc010fwj.2_Missense_Mutation_p.G350S|ASIC4_uc002vly.2_Missense_Mutation_p.G350S|ASIC4_uc002vma.3_Missense_Mutation_p.G350S|ASIC4_uc002vmb.3_Missense_Mutation_p.G4S	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	350						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.G350S(1)									CATGGGCAGTGGCCTGGAGAT	0.632000													51	160					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153224170	153224170	+	Silent	SNP	A	A	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chrX:153224170A>C	uc004fjp.3	-	9	2181	c.1653T>G	c.(1651-1653)gcT>gcG	p.A551A		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	551					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.A551A(1)|p.A452A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGGCCGCAGCGGCCAGTG	0.657000													14	16					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20620724	20620724	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr9:20620724T>C	uc003zoe.2	-	1	381	c.122A>G	c.(121-123)cAc>cGc	p.H41R	MLLT3_uc011lne.1_Missense_Mutation_p.H9R|MLLT3_uc011lnf.1_Missense_Mutation_p.H38R|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	41	YEATS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.H41R(2)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TATGTTACTGTGCTCCGGACC	0.547000			T	MLL	ALL								47	216					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225717687	225717687	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:225717687G>T	uc010fwz.1	-	16	2280	c.2041C>A	c.(2041-2043)Cac>Aac	p.H681N	DOCK10_uc002vob.2_Missense_Mutation_p.H675N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	681	DHR-1.						GTP binding	p.H681N(3)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TACTTGAGGTGTTTGGGGTAA	0.338000													29	124					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	Splice_Site	SNP	G	G	A	rs4770716	by1000genomes	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr13:25168501G>A	uc001upm.3	+	10		c.1173_splice	c.e10+1		TPTE2P6_uc001upn.3_Splice_Site|TPTE2P6_uc001upo.3_Splice_Site					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TTTTCTCTTCGGTGAGTAATC	0.388000													4	56					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58621140	58621140	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:58621140A>C	uc002env.3	-	5	691	c.398T>G	c.(397-399)cTg>cGg	p.L133R	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.L133R|CNOT1_uc002enx.3_Missense_Mutation_p.L133R|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	133					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.L133R(3)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAATTCAACAGGGCAAGGCC	0.338000													29	135					0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122848489	122848489	+	Silent	SNP	G	G	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:122848489G>A	uc010rzs.2	-	2	570	c.570C>T	c.(568-570)cgC>cgT	p.R190R		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	Homo sapiens brain-specific homeobox (BSX), mRNA.	190								p.R190R(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCTCTGAACCGCGGGGGCTGC	0.657000													3	21					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140501299	140501299	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr7:140501299C>A	uc003vwc.4	-	5	834	c.773G>T	c.(772-774)gGt>gTt	p.G258V		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	258					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G258V(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ACAGCGGAAACCCTGGAAAAG	0.368000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				11	75					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48654539	48654539	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:48654539C>T	uc002pia.1	-	6	644	c.524G>A	c.(523-525)gGa>gAa	p.G175E	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Missense_Mutation_p.G144E|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	175					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.G175E(3)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCGTCTTCTCCTTCCTTCTC	0.567000								Nucleotide excision repair (NER)					66	248					0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48965256	48965256	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr7:48965256T>A	uc010kyv.1	+	0	1100	c.988T>A	c.(988-990)Ttg>Atg	p.L330M						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		GCAGCAGTTTTTGGTGATGAA	0.517000													26	143					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810477	123810477	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:123810477G>A	uc001pzk.1	+	0	154	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D52N(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTGACCTCCGACCCACACCT	0.443000													62	188					0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4202306	4202306	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr20:4202306C>T	uc002wkr.2	-	1	1638	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	528				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	p.R528H(2)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TGCCTCTGCGCGCTGCGCGCC	0.716000													18	62					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155451980	155451980	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr1:155451980A>T	uc009wqq.3	-	2	1161	c.681T>A	c.(679-681)tgT>tgA	p.C227*	ASH1L_uc001fkt.3_Nonsense_Mutation_p.C227*|ASH1L_uc009wqr.1_Nonsense_Mutation_p.C227*	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	227					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.C227*(2)|p.T226I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGGAAGGAGGACAGGTAGCAA	0.453000													67	181					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167068219	167068219	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:167068219T>C	uc011bpc.2	-	8	854	c.517A>G	c.(517-519)Act>Gct	p.T173A	ZBBX_uc003feq.3_Missense_Mutation_p.T144A|ZBBX_uc003fep.3_Missense_Mutation_p.T173A	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	173						intracellular	zinc ion binding	p.T173A(3)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGCAAAAGAGTTGTTCTGTGG	0.328000													75	310					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56817470	56817470	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr12:56817470C>T	uc001slf.2	-	16	2156	c.1988G>A	c.(1987-1989)cGt>cAt	p.R663H		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	663	Glu-rich.				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.R663H(2)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ctcTGCCCCACGTTCCTCTGG	0.502000													13	40					0	0	1	0	0
ACTRT3	84517	broad.mit.edu	37	3	169486066	169486066	+	Silent	SNP	A	A	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:169486066A>G	uc003ffs.2	-	1	648	c.273T>C	c.(271-273)taT>taC	p.Y91Y		NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Homo sapiens actin related protein M1 (ARPM1), mRNA.	91						cytoplasm|cytoskeleton		p.Y91Y(1)									GCTTTAGGTTATAGTCATAGA	0.473000													43	64					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chrGL000205.1:117582C>T	uc002kgk.4	+	0		c.960C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000													3	15					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229635527	229635527	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr1:229635527G>C	uc001htn.3	-	4	644	c.552C>G	c.(550-552)atC>atG	p.I184M		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	184					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding	p.I184M(2)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GCCAATAGCGGATAGATCCTT	0.453000													15	88					0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52088081	52088081	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:52088081T>C	uc003dct.3	-	1	906	c.827A>G	c.(826-828)aAt>aGt	p.N276S	DUSP7_uc010hma.2_Missense_Mutation_p.N276S	NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	276					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	p.N225S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGTGTGACATTGAGGATATA	0.582000													47	169					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209358096	209358096	+	Silent	SNP	G	G	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:209358096G>T	uc010zjb.2	+	12	1684	c.1398G>T	c.(1396-1398)gtG>gtT	p.V466V	PTH2R_uc002vdb.3_Silent_p.V455V|PTH2R_uc010fuo.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	455						integral to plasma membrane	parathyroid hormone receptor activity	p.A466A(1)|p.V455V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCACCACCGTGACGCACAGCA	0.612000													3	20					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696688	47696688	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr17:47696688T>G	uc002ipg.3	-	3	557	c.260A>C	c.(259-261)tAc>tCc	p.Y87S	SPOP_uc010dbk.3_Missense_Mutation_p.Y87S|SPOP_uc002ipb.3_Missense_Mutation_p.Y87S|SPOP_uc002ipc.3_Missense_Mutation_p.Y87S|SPOP_uc002ipd.3_Missense_Mutation_p.Y87S|SPOP_uc002ipe.3_Missense_Mutation_p.Y87S|SPOP_uc002ipf.3_Missense_Mutation_p.Y87S	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	87	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.Y87C(4)|p.Y87S(4)|p.Y87N(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403000										Prostate(2;0.17)			44	199					0	0	1	0	0
RFK	55312	broad.mit.edu	37	9	79002418	79002418	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr9:79002418T>A	uc004akd.2	-	3	722	c.365A>T	c.(364-366)gAt>gTt	p.D122V		NM_018339	NP_060809	Q969G6	RIFK_HUMAN	Homo sapiens riboflavin kinase (RFK), mRNA.	122					riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity	p.D129V(1)		pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	TTCTTCAATATCACCTTGAAT	0.333000													15	267					0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74618288	74618288	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:74618288C>G	uc009yub.3	-	8	995	c.663G>C	c.(661-663)aaG>aaC	p.K221N	XRRA1_uc001ovm.2_Non-coding_Transcript|XRRA1_uc001ovn.3_5'Flank|XRRA1_uc001ovo.3_5'UTR|XRRA1_uc001ovp.4_5'UTR|XRRA1_uc001ovq.4_Missense_Mutation_p.K221N|XRRA1_uc001ovr.2_5'UTR|XRRA1_uc001ovt.2_5'UTR	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	221					response to X-ray	cytoplasm|nucleus		p.K221N(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGATGTACCTCTTGCTTGTCA	0.542000													20	105					0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59064095	59064095	+	Silent	SNP	T	T	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr15:59064095T>G	uc002afj.3	+	0	703	c.501T>G	c.(499-501)ccT>ccG	p.P167P	FAM63B_uc002afi.3_Silent_p.P167P|FAM63B_uc002afk.3_Non-coding_Transcript|FAM63B_uc002afl.3_Non-coding_Transcript	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	Homo sapiens family with sequence similarity 63, member B (FAM63B), transcript variant 1, mRNA.	167								p.P167P(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CGAGCCCTCCTGGGGAATCTC	0.632000													4	32					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52288788	52288803	+	Frame_Shift_Del	DEL	CTATGCAATTGTTCGA	-	-			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:52288788_52288803delCTATGCAATTGTTCGA	uc003pap.4	+	1	323_338	c.108_123delCTATGCAATTGTTCGA	c.(106-123)ggctatgcaattgttcgafs	p.G36fs	EFHC1_uc011dwv.1_5'UTR|EFHC1_uc011dww.2_Frame_Shift_Del_p.G17fs	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	36						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	p.G36C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ACAGGAACGGCTATGCAATTGTTCGACGTCCAACAG	0.458													27	164	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr17:12647692_12647694delCAG	uc002gno.2	+	7	1209_1211	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	MYOCD_uc002gnn.2_In_Frame_Del_p.Q310del|MYOCD_uc002gnp.1_In_Frame_Del_p.Q214del|MYOCD_uc002gnq.2_In_Frame_Del_p.Q29del	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	310	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.Q309Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596													7	52	---	---	---	---					
RALGAPA2	57186	broad.mit.edu	37	20	20591999	20592002	+	Frame_Shift_Del	DEL	TTTA	-	-			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr20:20591999_20592002delTTTA	uc002wrz.3	-	13	1900_1903	c.1757_1760delTAAA	c.(1756-1761)ataaagfs	p.I586fs	RALGAPA2_uc002wry.3_Frame_Shift_Del_p.I201fs|RALGAPA2_uc010zsg.2_Intron	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	586					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAACAAGTCCTTTATTTGTTTATC	0.382													8	773	---	---	---	---					
