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
ASXL2	55252	broad.mit.edu	37	2	25965956	25965956	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr2:25965956G>A	ENST00000435504.4	-	13	3543	c.3250C>T	c.(3250-3252)Ccg>Tcg	p.P1084S	ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.P1056S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1084					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGAGGGCGGCACAACTGAG	0.502000													4	161					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79837926	79837926	+	Silent	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr12:79837926C>T	ENST00000261205.4	+	10	1659	c.1002C>T	c.(1000-1002)aaC>aaT	p.N334N	SYT1_ENST00000552744.1_Silent_p.N334N|SYT1_ENST00000457153.2_Silent_p.N331N|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000393240.3_Silent_p.N334N	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	334	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TTAAAAAGAACACACTTAACC	0.343000													5	125					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74350907	74350907	+	Silent	SNP	T	T	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr3:74350907T>G	ENST00000263665.6	-	14	1863	c.1836A>C	c.(1834-1836)acA>acC	p.T612T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	612	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTTGGGCTGTTGTGTCTGTAA	0.448000													9	54					0	0	1	0	0
PMM2	5373	broad.mit.edu	37	16	8906896	8906896	+	Missense_Mutation	SNP	A	A	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr16:8906896A>G	ENST00000268261.4	+	7	638	c.572A>G	c.(571-573)tAc>tGc	p.Y191C	PMM2_ENST00000566983.1_Missense_Mutation_p.Y164C|PMM2_ENST00000539622.1_Missense_Mutation_p.Y108C|PMM2_ENST00000537352.1_Missense_Mutation_p.Y66C|PMM2_ENST00000569958.1_Missense_Mutation_p.Y100C	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	191					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						GACAAGAGATACTGTCTGCGA	0.458000													26	192					0	0	1	0	0
SERGEF	26297	broad.mit.edu	37	11	17809803	17809803	+	Silent	SNP	C	C	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr11:17809803C>A	ENST00000265965.5	-	11	1357	c.1206G>T	c.(1204-1206)ctG>ctT	p.L402L	SERGEF_ENST00000528200.1_3'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	402					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						GGTGAGCTGGCAGCTGGCAGA	0.597000													18	48					6.94344e-10	7.74938e-10	1	1	0
GPR156	165829	broad.mit.edu	37	3	119887084	119887084	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr3:119887084C>T	ENST00000464295.1	-	10	1685	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	GPR156_ENST00000461057.1_Missense_Mutation_p.A410T|GPR156_ENST00000315843.3_Missense_Mutation_p.A414T			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	414						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGGACCGAGGCTACCGCCTGG	0.612000													19	42					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38743474	38743474	+	Missense_Mutation	SNP	T	T	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr3:38743474T>G	ENST00000449082.2	-	26	4512	c.4513A>C	c.(4513-4515)Acg>Ccg	p.T1505P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1505					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGAATTTTCGTCTTTTCTTCA	0.453000													18	46					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85555813	85555813	+	Missense_Mutation	SNP	A	A	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:85555813A>G	ENST00000294664.6	+	8	935	c.755A>G	c.(754-756)aAt>aGt	p.N252S	WDR63_ENST00000326813.8_Intron|WDR63_ENST00000370596.1_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	252										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATCCTAAAAATGCTACTACG	0.333000													28	14					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47549223	47549223	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr21:47549223G>A	ENST00000357838.4	+	28	2657	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K	COL6A2_ENST00000397763.1_Missense_Mutation_p.E859K|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AAACGCCACGGAGCTCACGCA	0.692000													23	151					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858337	9858337	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr16:9858337G>A	ENST00000396573.2	-	14	3373	c.3064C>T	c.(3064-3066)Cgc>Tgc	p.R1022C	GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1022C|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1022C|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1022C|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1022C|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R865C	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1022					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1022C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAATCCTGGCGTATGGAATCC	0.532000													30	184					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50960245	50960245	+	Silent	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr10:50960245C>T	ENST00000374103.4	-	5	613	c.528G>A	c.(526-528)ccG>ccA	p.P176P	OGDHL_ENST00000432695.1_5'UTR|OGDHL_ENST00000419399.1_Silent_p.P119P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	176					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGTGGTTGTCGGCAGCTGGA	0.612000													19	31					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44952723	44952723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr15:44952723C>A	ENST00000261866.7	-	2	365	c.349G>T	c.(349-351)Gaa>Taa	p.E117*	SPG11_ENST00000559193.1_Nonsense_Mutation_p.E117*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.E117*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.E117*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.E117*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	117					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAATTAAATTCATAGATAAGC	0.383000													9	46					0.000274275	0.000283342	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	92					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153219760	153219760	+	Missense_Mutation	SNP	A	A	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chrX:153219760A>T	ENST00000310441.7	-	17	5056	c.4090T>A	c.(4090-4092)Tcc>Acc	p.S1364T	HCFC1_ENST00000369984.4_Missense_Mutation_p.S1364T|HCFC1_ENST00000354233.3_Missense_Mutation_p.S1295T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1364					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	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			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)					GTGCCAGTGGAAGTGGTCTGG	0.687000													4	77					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47850187	47850187	+	Missense_Mutation	SNP	G	G	T	rs139332489	by1000genomes	TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr20:47850187G>T	ENST00000371764.4	+	11	1316	c.1307G>T	c.(1306-1308)cGg>cTg	p.R436L	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	436						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCTTCCTGCGGCAGGAGTTC	0.577000													47	116					4.10826e-27	5.03463e-27	1	1	0
CDCA2	157313	broad.mit.edu	37	8	25337499	25337499	+	Silent	SNP	A	A	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr8:25337499A>C	ENST00000330560.3	+	8	1368	c.891A>C	c.(889-891)gcA>gcC	p.A297A	CDCA2_ENST00000380665.3_Silent_p.A282A|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	297					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CGTTCACAGCAGAAGTGAGCT	0.517000													9	48					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085406	64085406	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr3:64085406C>T	ENST00000295902.6	-	8	2441	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G675E|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	619						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTGGAGGTTTCCCTCCATCTC	0.572000													22	145					0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92941661	92941661	+	Silent	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:92941661G>A	ENST00000370332.1	-	7	1512	c.1194C>T	c.(1192-1194)tgC>tgT	p.C398C	GFI1_ENST00000294702.5_Silent_p.C398C|GFI1_ENST00000427103.1_Silent_p.C398C	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	398					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CACAGAGGTCGCAGCCGAAGG	0.607000													18	5					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60059735	60059735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr11:60059735G>T	ENST00000355131.3	+	3	245	c.22G>T	c.(22-24)Gaa>Taa	p.E8*	MS4A4A_ENST00000532114.1_Nonsense_Mutation_p.E27*|MS4A4A_ENST00000337908.4_Nonsense_Mutation_p.E27*|MS4A4A_ENST00000395016.3_Nonsense_Mutation_p.E8*	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	27						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GCAAGGAATGGAACAGGCCAT	0.463000													21	66					1.55795e-14	1.80318e-14	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121295927	121295927	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr8:121295927C>T	ENST00000297848.3	+	32	4147	c.3877C>T	c.(3877-3879)Cgg>Tgg	p.R1293W	COL14A1_ENST00000309791.4_Missense_Mutation_p.R1293W|COL14A1_ENST00000247781.3_Missense_Mutation_p.R1198W	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1293	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTTCTATTCCGGATTCTTCC	0.388000													6	96					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813826	100813826	+	Missense_Mutation	SNP	G	G	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr12:100813826G>T	ENST00000323346.5	+	12	1972	c.1659G>T	c.(1657-1659)caG>caT	p.Q553H	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.Q503H	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	553					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCACCTCCCAGAATTGTGAAG	0.458000													7	35					2.7689e-08	3.03607e-08	1	1	0
CLTC	1213	broad.mit.edu	37	17	57733363	57733363	+	Missense_Mutation	SNP	T	T	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr17:57733363T>G	ENST00000269122.3	+	6	1218	c.944T>G	c.(943-945)aTa>aGa	p.I315R	CLTC_ENST00000393043.1_Missense_Mutation_p.I315R|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	315	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACAGCTGGAATAATTGGAGTA	0.383000			T	"""ALK, TFE3"""	"""ALCL, renal """								30	106					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153581719	153581719	+	Silent	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chrX:153581719C>T	ENST00000422373.1	-	36	6191	c.5943G>A	c.(5941-5943)ccG>ccA	p.P1981P	FLNA_ENST00000344736.4_Silent_p.P1949P|FLNA_ENST00000369850.3_Silent_p.P1989P|FLNA_ENST00000369856.3_Silent_p.P122P|FLNA_ENST00000360319.4_Silent_p.P1981P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1989					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCGAGGGCGGGACCACAG	0.627000													7	148					0	0	1	0	0
FIGF	2277	broad.mit.edu	37	X	15371243	15371243	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chrX:15371243C>T	ENST00000297904.3	-	5	1118	c.689G>A	c.(688-690)aGc>aAc	p.S230N		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	230	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					ACATTTGTTGCTATCCCATAG	0.333000													9	42					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350796	56350796	+	Missense_Mutation	SNP	A	A	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr17:56350796A>G	ENST00000340482.3	-	8	1872	c.1696T>C	c.(1696-1698)Tcc>Ccc	p.S566P	MPO_ENST00000225275.3_Missense_Mutation_p.S534P			P05164	PERM_HUMAN	myeloperoxidase	534					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ACCCTCCAGGAGGCAAAAAAG	0.607000													21	168					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2678499	2678499	+	Missense_Mutation	SNP	T	T	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr6:2678499T>C	ENST00000274643.7	-	10	1337	c.995A>G	c.(994-996)gAg>gGg	p.E332G	MYLK4_ENST00000268446.5_Missense_Mutation_p.E332G	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	332	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CTTGGCCTCCTCCGAGATGTC	0.522000													26	124					0	0	1	0	0
GYPB	2994	broad.mit.edu	37	4	144922426	144922426	+	Missense_Mutation	SNP	G	G	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr4:144922426G>T	ENST00000283126.7	-	2	103	c.48C>A	c.(46-48)agC>agA	p.S16R	GYPB_ENST00000429670.2_Missense_Mutation_p.S16R|GYPB_ENST00000513128.1_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000502664.1_Missense_Mutation_p.S16R|GYPB_ENST00000510196.2_5'UTR					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					ATGCTGATATGCTCACAATTT	0.378000													9	106					2.27111e-07	2.44732e-07	1	1	0
MYLK4	340156	broad.mit.edu	37	6	2678480	2678480	+	Missense_Mutation	SNP	G	G	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr6:2678480G>C	ENST00000274643.7	-	10	1356	c.1014C>G	c.(1012-1014)atC>atG	p.I338M	MYLK4_ENST00000268446.5_Missense_Mutation_p.I338M	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	338	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GAAGCTTAGAGATGAACTCCT	0.527000													27	127					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255893	240255893	+	Missense_Mutation	SNP	G	G	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:240255893G>T	ENST00000319653.9	+	1	714	c.484G>T	c.(484-486)Gat>Tat	p.D162Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	162					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.D305Y(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GATCGCCGAGGATGTGGAAAC	0.642000													15	56					3.27435e-08	3.55908e-08	1	1	0
ZNF385D	79750	broad.mit.edu	37	3	21706487	21706487	+	Missense_Mutation	SNP	A	A	G	rs149563746		TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr3:21706487A>G	ENST00000281523.2	-	2	574	c.56T>C	c.(55-57)cTt>cCt	p.L19P	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	19						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGGACGGACAAGGGCCGGGAG	0.522000													6	50					0	0	1	0	0
DRAXIN	374946	broad.mit.edu	37	1	11766744	11766744	+	Missense_Mutation	SNP	G	G	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:11766744G>T	ENST00000294485.5	+	2	564	c.429G>T	c.(427-429)agG>agT	p.R143S		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		AGAGACGCAGGGACAGGTTGA	0.632000													6	19					3.59834e-05	3.74827e-05	1	1	0
UBE2Z	65264	broad.mit.edu	37	17	46990242	46990242	+	Missense_Mutation	SNP	G	G	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr17:46990242G>T	ENST00000360943.5	+	3	572	c.437G>T	c.(436-438)gGt>gTt	p.G146V		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	146					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity										TATGAAGGGGGTTTCTTCCTG	0.502000													37	265					4.0492e-12	4.60136e-12	1	1	0
WEE2	494551	broad.mit.edu	37	7	141408819	141408819	+	Missense_Mutation	SNP	C	C	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr7:141408819C>A	ENST00000397541.2	+	1	667	c.261C>A	c.(259-261)caC>caA	p.H87Q	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	87					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CAGTGTCACACCCTCTCAAAT	0.532000													9	310					6.42651e-13	7.36985e-13	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47351350	47351350	+	Nonsense_Mutation	SNP	A	A	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr14:47351350A>T	ENST00000426342.1	-	11	2165	c.1419T>A	c.(1417-1419)taT>taA	p.Y473*	MDGA2_ENST00000357362.3_Nonsense_Mutation_p.Y473*|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000399232.2_Nonsense_Mutation_p.Y771*|MDGA2_ENST00000439988.2_Nonsense_Mutation_p.Y702*	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	702	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTGTCAAGTTATATGTAATTA	0.363000													18	29					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113716624	113716624	+	Silent	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr12:113716624G>A	ENST00000550785.1	+	15	1666	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	TPCN1_ENST00000335509.6_Silent_p.A427A|TPCN1_ENST00000392569.4_Silent_p.A359A|TPCN1_ENST00000541517.1_Silent_p.A499A	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	427						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCAGGACGGCGCTCCTCATCT	0.572000													16	72					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	G	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr5:140181071G>C	ENST00000522353.2	+	1	289	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1												p.G97R(2)|p.G97W(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557000													8	246					0	0	1	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20781943	20781943	+	Silent	SNP	G	G	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr14:20781943G>C	ENST00000398169.3	-	6	931	c.315C>G	c.(313-315)ctC>ctG	p.L105L	CCNB1IP1_ENST00000437553.2_Silent_p.L105L|CCNB1IP1_ENST00000398160.2_Silent_p.L105L|CCNB1IP1_ENST00000353689.4_Silent_p.L105L|CCNB1IP1_ENST00000358932.4_Silent_p.L105L|CCNB1IP1_ENST00000398163.2_Silent_p.L105L			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	105						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		ATTCTTGATAGAGACGTTCCT	0.338000			T	HMGA2	leiomyoma								6	37					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9011470	9011470	+	Silent	SNP	A	A	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr19:9011470A>C	ENST00000397910.4	-	36	38966	c.38763T>G	c.(38761-38763)acT>acG	p.T12921T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12923	SEA 6.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATCCATTCCAGTGGCTGCCC	0.542000													24	153					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795873	21795873	+	Silent	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr14:21795873C>T	ENST00000206660.6	+	17	2802	c.2802C>T	c.(2800-2802)agC>agT	p.S934S	RPGRIP1_ENST00000557771.1_Silent_p.S896S|RPGRIP1_ENST00000400017.2_Silent_p.S934S|RPGRIP1_ENST00000382933.4_Silent_p.S260S|RPGRIP1_ENST00000556336.1_Silent_p.S591S|RPGRIP1_ENST00000307974.4_Silent_p.S293S			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	934					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CCCCTGAGAGCTTCCTGAAAC	0.463000													6	41					0	0	1	0	0
KCTD5	54442	broad.mit.edu	37	16	2732724	2732724	+	Missense_Mutation	SNP	C	C	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr16:2732724C>G	ENST00000301738.4	+	1	249	c.175C>G	c.(175-177)Cgg>Ggg	p.R59G	KCTD5_ENST00000564195.1_Missense_Mutation_p.R59G	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	59	BTB.				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						CCTCACCACTCGGCAGACCCT	0.692000													10	61					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38990455	38990455	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr19:38990455G>A	ENST00000355481.4	+	44	7339	c.7208G>A	c.(7207-7209)cGc>cAc	p.R2403H	RYR1_ENST00000360985.3_Missense_Mutation_p.R2403H|RYR1_ENST00000359596.3_Missense_Mutation_p.R2403H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2403	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GACCGGCGGCGCGAGCAGTGA	0.701000													10	16					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39762931	39762931	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr21:39762931C>T	ENST00000442448.1	-	10	1125	c.854G>A	c.(853-855)cGc>cAc	p.R285H	ERG_ENST00000398910.1_Missense_Mutation_p.R286H|ERG_ENST00000398907.1_Missense_Mutation_p.R279H|ERG_ENST00000398919.2_Missense_Mutation_p.R309H|ERG_ENST00000398911.1_Missense_Mutation_p.R285H|ERG_ENST00000417133.2_Missense_Mutation_p.R309H|ERG_ENST00000398897.1_Missense_Mutation_p.R186H|ERG_ENST00000453032.2_Missense_Mutation_p.R210H|ERG_ENST00000288319.7_Missense_Mutation_p.R302H|ERG_ENST00000398905.1_Missense_Mutation_p.R278H	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	309					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				ATTTGCAAGGCGGCTACTTGT	0.353000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								31	119					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73927302	73927302	+	Splice_Site	SNP	G	G	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr7:73927302G>T	ENST00000476977.1	+	3	1956		c.e3+1		GTF2IRD1_ENST00000265755.3_Splice_Site|GTF2IRD1_ENST00000424337.2_Splice_Site|GTF2IRD1_ENST00000489094.1_Splice_Site|GTF2IRD1_ENST00000455841.2_Splice_Site			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1							nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGTTCTGCCGTGAGTACCCC	0.647000													11	70					1.58986e-06	1.68418e-06	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125109564	125109564	+	Missense_Mutation	SNP	G	G	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr8:125109564G>T	ENST00000522917.1	+	36	4954	c.4748G>T	c.(4747-4749)gGa>gTa	p.G1583V	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G1583V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1583	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTCAACCTGGACCTCCTGTT	0.512000													10	49					2.80697e-09	3.10506e-09	1	1	0
HNF1B	6928	broad.mit.edu	37	17	36064925	36064925	+	Splice_Site	SNP	T	T	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr17:36064925T>C	ENST00000225893.4	-	6	1699	c.1339_splice	c.e6+1	p.Q446_splice	HNF1B_ENST00000560016.1_Splice_Site_p.Q446_splice|HNF1B_ENST00000427275.2_Splice_Site_p.Q420_splice|HNF1B_ENST00000561193.1_Splice_Site_p.Q420_splice	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	446					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AGAACTTACTTTGTGCAATTG	0.448000													26	115					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357373	36357373	+	Missense_Mutation	SNP	G	G	A	rs143366792	byFrequency	TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr19:36357373G>A	ENST00000347900.6	+	15	1897	c.1687G>A	c.(1687-1689)Gcg>Acg	p.A563T	KIRREL2_ENST00000262625.7_Missense_Mutation_p.A613T|KIRREL2_ENST00000592409.1_Silent_p.P667P|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Silent_p.P682P|KIRREL2_ENST00000360202.5_Silent_p.P702P	NM_199179.2	NP_954648.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	0					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTAGCCACCCGCGTCTCCAGA	0.552000													37	151					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228359	140228359	+	Missense_Mutation	SNP	G	G	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr5:140228359G>T	ENST00000378122.3	+	1	1003	c.279G>T	c.(277-279)gaG>gaT	p.E93D	PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E93D|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGACCGCGAGGAGCTGTGCG	0.577000													46	260					2.43277e-16	2.86883e-16	1	1	0
SMURF2	64750	broad.mit.edu	37	17	62552036	62552036	+	Silent	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr17:62552036G>A	ENST00000262435.9	-	14	1699	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	504	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AAGGCAATGTGAAACCACCAT	0.368000													13	76					0	0	1	0	0
FANCC	2176	broad.mit.edu	37	9	97873898	97873898	+	Silent	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr9:97873898C>T	ENST00000289081.3	-	13	1430	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	FANCC_ENST00000375305.1_Silent_p.E392E	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	392					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GGAACCAGCTCTCAAAGGGAC	0.517000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				18	57					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24998206	24998206	+	Missense_Mutation	SNP	G	G	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr11:24998206G>C	ENST00000533227.1	+	8	621	c.334G>C	c.(334-336)Gac>Cac	p.D112H	LUZP2_ENST00000336930.6_Missense_Mutation_p.D198H	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	198						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGCAGCTCTTGACAGGGTAAG	0.318000													6	35					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41055512	41055512	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chrX:41055512G>A	ENST00000324545.7	+	27	4619	c.3986G>A	c.(3985-3987)cGt>cAt	p.R1329H	USP9X_ENST00000378308.2_Missense_Mutation_p.R1329H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1329					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGAACTGTTCGTCAGGTGGCA	0.403000													32	96					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85658404	85658404	+	Silent	SNP	G	G	A	rs139758320	byFrequency	TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr4:85658404G>A	ENST00000322366.6	-	41	7097	c.6690C>T	c.(6688-6690)caC>caT	p.H2230H	WDFY3_ENST00000295888.4_Silent_p.H2230H			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2230						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTATGTCCACGTGGCCCCTTT	0.443000													20	59					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109086437	109086437	+	Missense_Mutation	SNP	C	C	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr2:109086437C>G	ENST00000309863.6	+	6	1366	c.652C>G	c.(652-654)Caa>Gaa	p.Q218E	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	218					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACAGTTACTCAACTCCAAAA	0.348000													23	159					0	0	1	0	0
ZNF581	51545	broad.mit.edu	37	19	56156034	56156034	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr19:56156034C>T	ENST00000587252.1	+	2	370	c.97C>T	c.(97-99)Cct>Tct	p.P33S	ZNF581_ENST00000270451.5_Missense_Mutation_p.P33S|ZNF581_ENST00000588537.1_Missense_Mutation_p.P33S			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTCCCCAGAACCTGGACCTTC	0.617000													4	20					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8791808	8791808	+	Missense_Mutation	SNP	G	G	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr17:8791808G>C	ENST00000447110.1	-	10	1420	c.1296C>G	c.(1294-1296)agC>agG	p.S432R	PIK3R5_ENST00000584803.1_Missense_Mutation_p.S432R|PIK3R5_ENST00000581552.1_Missense_Mutation_p.S432R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	432					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GTACCAGCTGGCTGGTGCTCT	0.667000													5	9					0	0	1	0	0
ENTHD2	146705	broad.mit.edu	37	17	79207264	79207264	+	Missense_Mutation	SNP	C	C	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr17:79207264C>G	ENST00000374769.2	-	7	515	c.38G>C	c.(37-39)gGt>gCt	p.G13A	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.G165A					ENTH domain containing 2																		GTAGCCGAAACCCTGGAGGGT	0.701000													10	27					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4935121	4935121	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr16:4935121G>A	ENST00000345988.2	-	22	3624	c.3535C>T	c.(3535-3537)Cgg>Tgg	p.R1179W	PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1179					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGGTCTGGCCGCACGATCTCC	0.627000													4	155					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717414	73717414	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr2:73717414G>A	ENST00000264448.6	+	10	8436	c.8325G>A	c.(8323-8325)atG>atA	p.M2775I	ALMS1_ENST00000409009.1_Missense_Mutation_p.M2733I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2775					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTTAAAATGCATAGTAATT	0.358000													11	68					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	757466	757466	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr19:757466G>A	ENST00000215582.6	+	2	623	c.520G>A	c.(520-522)Ggc>Agc	p.G174S		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CAGGACCCCCGGCCCACCTCG	0.672000													4	12					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79747433	79747433	+	Missense_Mutation	SNP	C	C	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr5:79747433C>A	ENST00000338008.5	+	10	3692	c.3512C>A	c.(3511-3513)cCt>cAt	p.P1171H	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P1171H|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P1171H	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1171					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CCAAGTAATCCTTTTCTTTGT	0.383000													10	57					0.000978159	0.000986047	1	1	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			94	89					0	0	1	0	0
TLX2	3196	broad.mit.edu	37	2	74742767	74742767	+	Silent	SNP	C	C	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr2:74742767C>G	ENST00000233638.7	+	2	731	c.408C>G	c.(406-408)ctC>ctG	p.L136L	TLX2_ENST00000497238.1_3'UTR	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	136				RLTAAL -> PAV (in Ref. 2; CAA05636).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						TAGCTGCGCTCTCGCCCTTCT	0.672000													25	135					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96429162	96429162	+	Missense_Mutation	SNP	G	G	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr12:96429162G>C	ENST00000228740.2	-	1	277	c.136C>G	c.(136-138)Cag>Gag	p.Q46E	LTA4H_ENST00000552789.1_Intron|LTA4H_ENST00000413268.2_Intron	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	46					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TTGTCCTCCTGAGACTGGACC	0.692000													5	15					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86131094	86131094	+	Splice_Site	SNP	C	C	T	rs138508969		TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr11:86131094C>T	ENST00000278487.3	+	13	2100	c.1022_splice	c.e13+1	p.R341_splice	CCDC81_ENST00000445632.2_Splice_Site_p.R606_splice|CCDC81_ENST00000354755.1_Splice_Site_p.R516_splice|CCDC81_ENST00000528728.1_Splice_Site_p.R341_splice			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	606										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GGCTTTTGAACGGTAATGCCT	0.502000													28	48					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512956	70512956	+	Missense_Mutation	SNP	A	A	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr4:70512956A>G	ENST00000503640.1	-	1	462	c.407T>C	c.(406-408)aTg>aCg	p.M136T	UGT2A1_ENST00000286604.4_Missense_Mutation_p.M136T|UGT2A1_ENST00000512704.1_Missense_Mutation_p.M136T|UGT2A1_ENST00000514019.1_Missense_Mutation_p.M136T	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	136					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAGCTTTGCCATCAGCTGTTG	0.408000													13	102					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46611667	46611667	+	Silent	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr2:46611667C>T	ENST00000263734.3	+	16	2991	c.2481C>T	c.(2479-2481)ctC>ctT	p.L827L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	827					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGGCTGCTCGGGCCCTCAT	0.537000													38	177					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119923746	119923746	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:119923746C>T	ENST00000361035.4	+	3	360	c.77C>T	c.(76-78)gCg>gTg	p.A26V	HAO2_ENST00000325945.3_Missense_Mutation_p.A13V	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	13	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CAGGCCCATGCGCGAGAGCAG	0.473000													4	216					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12867052	12867052	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr19:12867052C>T	ENST00000549706.1	+	9	1370	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V	BEST2_ENST00000553030.1_Missense_Mutation_p.A349V|BEST2_ENST00000042931.1_Missense_Mutation_p.A349V			Q8NFU1	BEST2_HUMAN	bestrophin 2	349					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CCATACACAGCGGCTACTGTC	0.612000													29	216					0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37733641	37733641	+	Missense_Mutation	SNP	G	G	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr19:37733641G>C	ENST00000589413.1	+	8	1086	c.503G>C	c.(502-504)aGa>aCa	p.R168T	ZNF383_ENST00000352998.3_Missense_Mutation_p.R168T|ZNF383_ENST00000590503.1_Missense_Mutation_p.R168T			Q8NA42	ZN383_HUMAN	zinc finger protein 383	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGAAGACAGACCCTATGAA	0.318000													9	65					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816492	29816492	+	Silent	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr16:29816492G>A	ENST00000561482.1	+	13	2380	c.1743G>A	c.(1741-1743)ctG>ctA	p.L581L	KIF22_ENST00000160827.4_Silent_p.L649L|KIF22_ENST00000400751.5_Silent_p.L581L|KIF22_ENST00000569382.2_Silent_p.L595L	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	649					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGTCCTTCCTGAAGGTGAAGT	0.642000													26	135					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210977500	210977500	+	Missense_Mutation	SNP	A	A	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:210977500A>G	ENST00000367007.4	-	8	1559	c.1390T>C	c.(1390-1392)Tat>Cat	p.Y464H	KCNH1_ENST00000271751.4_Missense_Mutation_p.Y491H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	491					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATGGTGGCATAGAGAAGTGCT	0.483000													7	24					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124389	142124389	+	RNA	SNP	T	T	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr7:142124389T>C	ENST00000390376.2	-	0	88																											CTTCAGGATGTGGAATTTTGG	0.522000													6	155					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58519238	58519238	+	Missense_Mutation	SNP	C	C	T	rs145801962		TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr3:58519238C>T	ENST00000302819.5	-	5	808	c.517G>A	c.(517-519)Gca>Aca	p.A173T	ACOX2_ENST00000459701.2_Missense_Mutation_p.A173T	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	173					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TGGGTGGCTGCGTCATAGGTG	0.542000											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	71					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906305	13906305	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr12:13906305C>T	ENST00000279593.3	-	3	1165	c.956G>A	c.(955-957)aGc>aAc	p.S319N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	319					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTAACAACTGCTTTTGGGCTC	0.502000													22	103					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	24					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193195	152193195	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:152193195G>A	ENST00000368801.2	-	3	985	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	304					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGACTGGCGAGATCCAGAC	0.602000													64	205					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50662847	50662847	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr22:50662847G>A	ENST00000439308.2	-	12	2560	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R690W	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	690					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GACATCTGCCGGTCTACATTG	0.587000													25	189					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32664726	32664726	+	Nonsense_Mutation	SNP	C	C	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr2:32664726C>A	ENST00000421745.2	+	16	3916	c.3782C>A	c.(3781-3783)tCa>tAa	p.S1261*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1261					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCACTTGCTTCACTTTTGGCT	0.373000													15	34					4.75885e-15	5.5594e-15	1	1	0
RYR2	6262	broad.mit.edu	37	1	237755088	237755088	+	Missense_Mutation	SNP	A	A	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:237755088A>G	ENST00000366574.2	+	32	4527	c.4210A>G	c.(4210-4212)Aga>Gga	p.R1404G	RYR2_ENST00000360064.6_Missense_Mutation_p.R1402G|RYR2_ENST00000542537.1_Missense_Mutation_p.R1388G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1404	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCATTCTGCAAGACTCACCGA	0.388000													5	30					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84883030	84883030	+	Missense_Mutation	SNP	C	C	G	rs146382941	by1000genomes	TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr16:84883030C>G	ENST00000262424.5	+	4	623	c.399C>G	c.(397-399)gaC>gaG	p.D133E	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.D133E|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.D133E	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	133						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCTGGTATGACGAGGTGAAGG	0.617000													16	67					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27434250	27434250	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:27434250C>T	ENST00000263980.3	-	4	1746	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	SLC9A1_ENST00000374086.3_Missense_Mutation_p.E391K|SLC9A1_ENST00000545949.1_Missense_Mutation_p.E52K	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	391					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	ATGAGGGTCTCGCTGACGCTG	0.587000													6	10					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560646	210560646	+	Missense_Mutation	SNP	G	G	A	rs142649637	by1000genomes	TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr2:210560646G>A	ENST00000360351.4	+	7	4258	c.3752G>A	c.(3751-3753)cGc>cAc	p.R1251H	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R1247H|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1251					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.R1251H(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGCTCTTCCGCTCAGACACC	0.488000													4	97					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			86	86					0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	17997126	17997126	+	Splice_Site	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr17:17997126G>A	ENST00000225729.3	+	2	202		c.e2-1		DRG2_ENST00000583355.1_Splice_Site|DRG2_ENST00000395726.4_Splice_Site	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2						signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CCATCCTTTAGCCACTGAGTA	0.582000													11	39					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938021	12938021	+	Missense_Mutation	SNP	C	C	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chrX:12938021C>A	ENST00000218032.6	+	2	949	c.862C>A	c.(862-864)Caa>Aaa	p.Q288K	TLR8_ENST00000311912.5_Missense_Mutation_p.Q306K	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	288					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.Q306K(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAACTTGACCCAACTTCGATA	0.438000													5	141					0.000602214	0.000612007	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746454	77746454	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr2:77746454G>A	ENST00000409088.3	-	3	955	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	LRRTM4_ENST00000409884.1_Missense_Mutation_p.R181W|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R182W|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R182W|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R181W	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	181						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCAAGATTCCGACAGTCTTGA	0.413000													12	70					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5686301	5686301	+	Missense_Mutation	SNP	C	C	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr11:5686301C>A	ENST00000305836.5	-	8	1522	c.1220G>T	c.(1219-1221)gGa>gTa	p.G407V	TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Missense_Mutation_p.G407V|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396853.4_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	407	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		ACATTTAACTCCTTCCTCTAA	0.408000													33	101					2.42023e-17	2.90893e-17	1	1	0
ANKRD24	170961	broad.mit.edu	37	19	4216862	4216862	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr19:4216862G>A	ENST00000600132.1	+	18	1981	c.1705G>A	c.(1705-1707)Gat>Aat	p.D569N	ANKRD24_ENST00000262970.5_Missense_Mutation_p.D659N|ANKRD24_ENST00000318934.4_Missense_Mutation_p.D569N	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	569										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGCTGCAGGAGATGAAACCAT	0.572000													3	19					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													4	298					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21644597	21644597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr12:21644597G>A	ENST00000444129.2	-	3	538	c.70C>T	c.(70-72)Caa>Taa	p.Q24*	RECQL_ENST00000421138.2_Nonsense_Mutation_p.Q24*	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	24					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCTTGAATTTGAATTTCTACT	0.398000								Other identified genes with known or suspected DNA repair function					6	24					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4907897	4907897	+	Missense_Mutation	SNP	A	A	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr17:4907897A>T	ENST00000320785.5	+	12	1333	c.976A>T	c.(976-978)Agc>Tgc	p.S326C		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	326					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TGCAGCCCTGAGCCCTGCTGA	0.562000													33	52					0	0	1	0	0
KRT19	3880	broad.mit.edu	37	17	39681200	39681200	+	Silent	SNP	G	G	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr17:39681200G>C	ENST00000361566.3	-	3	615	c.555C>G	c.(553-555)ggC>ggG	p.G185G		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CCCTGCGCAGGCCGTTGATGT	0.577000													5	197					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124831160	124831160	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr12:124831160G>A	ENST00000356219.3	-	32	4485	c.4330C>T	c.(4330-4332)Ccc>Tcc	p.P1444S	NCOR2_ENST00000404121.2_Missense_Mutation_p.P998S|NCOR2_ENST00000405201.1_Missense_Mutation_p.P1437S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1428S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1427S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1427S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1445					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCAGCTCGGGCGTGTGCCGC	0.721000													6	14					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657300	46657300	+	Silent	SNP	A	A	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr22:46657300A>G	ENST00000253255.5	-	1	1919	c.1920T>C	c.(1918-1920)gcT>gcC	p.A640A		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	640	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CATATTGACTAGCCAACATAC	0.488000													17	170					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117651234	117651234	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr11:117651234C>T	ENST00000321322.6	-	2	519	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	113	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTTGGGGCTCCGGATCTTGCC	0.602000													30	172					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56918054	56918054	+	Missense_Mutation	SNP	C	C	A	rs121909382		TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr16:56918054C>A	ENST00000438926.2	+	14	1792	c.1763C>A	c.(1762-1764)gCg>gAg	p.A588E	SLC12A3_ENST00000563236.1_Missense_Mutation_p.A588E|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A587E|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A587E	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	588			A -> V (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACCTGGTGGGCGGCCCTCATC	0.607000													7	76					0.27861	0.27861	1	1	0
IBSP	3381	broad.mit.edu	37	4	88732653	88732653	+	Missense_Mutation	SNP	A	A	G			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr4:88732653A>G	ENST00000226284.5	+	7	612	c.545A>G	c.(544-546)aAc>aGc	p.N182S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	182					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACCAGTACCAACAGCACAGAG	0.488000													11	53					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130906998	130906998	+	Splice_Site	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr12:130906998C>T	ENST00000261655.4	-	13	2633	c.2470_splice	c.e13+1	p.D824_splice		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	824						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCCACTAACCGATGGATGGG	0.582000													3	31					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244773602	244773602	+	Missense_Mutation	SNP	C	C	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:244773602C>A	ENST00000366534.4	+	19	2518	c.2464C>A	c.(2464-2466)Cca>Aca	p.P822T	C1orf101_ENST00000366533.4_Missense_Mutation_p.P822T|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.P671T	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	822						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CAAGCACCTCCCACTAGAAGA	0.388000													9	68					4.36969e-10	4.92082e-10	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72494944	72494944	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr10:72494944G>A	ENST00000373208.1	+	9	1381	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.D458N	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	458	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTGCCTCCTCGATGACCCCTT	0.592000													8	65					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106927098	106927098	+	Missense_Mutation	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr10:106927098G>A	ENST00000369701.3	+	13	2119	c.1892G>A	c.(1891-1893)aGg>aAg	p.R631K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	631						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGCCAGTCAGGCATTTGTGG	0.463000													17	37					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269189	1269189	+	Silent	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr11:1269189C>T	ENST00000447027.1	+	31	11146	c.11088C>T	c.(11086-11088)ctC>ctT	p.L3696L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.L3693L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3693	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGATCCTCACAAAGCTGA	0.637000													88	183					0	0	1	0	0
ADRA1B	147	broad.mit.edu	37	5	159344024	159344024	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr5:159344024C>T	ENST00000306675.3	+	1	235	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	38					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CTCCACACTGCCCCAGCTGGA	0.592000													15	72					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811745	7811745	+	Silent	SNP	C	C	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chrX:7811745C>A	ENST00000381059.3	+	3	528	c.309C>A	c.(307-309)ccC>ccA	p.P103P	VCX_ENST00000341408.4_Silent_p.P103P	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	103	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				AGCACGACCCCCTGAGTCAGG	0.682000													9	235					0.000442599	0.000453483	1	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124388	142124388	+	RNA	SNP	G	G	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr7:142124388G>C	ENST00000390376.2	-	0	89																											TCTTCAGGATGTGGAATTTTG	0.522000													6	156					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118917347	118917347	+	Missense_Mutation	SNP	C	C	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr11:118917347C>A	ENST00000404233.3	-	23	2887	c.2763G>T	c.(2761-2763)aaG>aaT	p.K921N	HYOU1_ENST00000525859.1_Missense_Mutation_p.K859N|HYOU1_ENST00000529972.1_Missense_Mutation_p.K859N	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	921						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGGTCCCATTCTTGTCCTTAG	0.577000													50	110					1.38658e-30	1.71606e-30	1	1	0
EZH2	2146	broad.mit.edu	37	7	148543653	148543653	+	Missense_Mutation	SNP	C	C	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr7:148543653C>A	ENST00000320356.2	-	3	276	c.155G>T	c.(154-156)aGa>aTa	p.R52I	EZH2_ENST00000350995.2_Missense_Mutation_p.R52I|EZH2_ENST00000476773.1_Missense_Mutation_p.R52I|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000541220.1_Missense_Mutation_p.R52I|EZH2_ENST00000460911.1_Missense_Mutation_p.R52I|EZH2_ENST00000478654.1_Missense_Mutation_p.R52I|EZH2_ENST00000483967.1_Missense_Mutation_p.R52I	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	52	Interaction with DNMT1, DNMT3A and DNMT3B.|Interaction with EED (By similarity).				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GATTTCCGTTCTTTCCAAAAT	0.383000			Mis		DLBCL								35	44					3.67414e-24	4.45891e-24	1	1	0
CLEC4F	165530	broad.mit.edu	37	2	71043645	71043645	+	Missense_Mutation	SNP	C	C	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr2:71043645C>T	ENST00000272367.2	-	4	944	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	CLEC4F_ENST00000426626.1_Missense_Mutation_p.E290K	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	290					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGCAAATTTTCCTTTAGTCCC	0.418000													56	76					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41988759	41988759	+	Missense_Mutation	SNP	G	G	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr15:41988759G>T	ENST00000219905.7	+	3	1732	c.1551G>T	c.(1549-1551)gaG>gaT	p.E517D	MGA_ENST00000389936.4_Missense_Mutation_p.E517D|MGA_ENST00000566586.1_Missense_Mutation_p.E517D|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000545763.1_Missense_Mutation_p.E517D|MGA_ENST00000570161.1_Missense_Mutation_p.E517D	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	517						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATTCCAATGAGACTGCCTTCT	0.393000													10	35					7.48243e-07	7.99405e-07	1	1	0
ALLC	55821	broad.mit.edu	37	2	3743923	3743923	+	Silent	SNP	G	G	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr2:3743923G>A	ENST00000252505.3	+	9	888	c.726G>A	c.(724-726)cgG>cgA	p.R242R	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	261							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGCTGGACCGGCCACCAATAT	0.343000										HNSCC(21;0.051)			10	38					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160868761	160868761	+	Silent	SNP	A	A	C			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr6:160868761A>C	ENST00000392145.1	+	10	1551	c.1524A>C	c.(1522-1524)gcA>gcC	p.A508A	SLC22A3_ENST00000275300.2_Silent_p.A507A			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	507						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GTATCCTGGCATCCATCTGTG	0.517000													8	57					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17720687	17720687	+	RNA	DEL	G	G	-	rs67226027		TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:17720687delG	ENST00000434762.2	+	0	1233							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCCTCTGAGGGGGGAGGGG	0.587													10	9	---	---	---	---					
PDE4DIP	9659	broad.mit.edu	37	1	144863324	144863324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:144863324delG	ENST00000369359.4	-	40	6525	c.6487delC	c.(6487-6489)tgfs	p.L2163fs	PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.L1921fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.L2112fs|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.L2027fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.L2027fs|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2027					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATACCTTTCAGCCCCTTCTTG	0.488			T	PDGFRB	MPD								8	281	---	---	---	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													3	6	---	---	---	---					
RUVBL1	8607	broad.mit.edu	37	3	127820398	127820411	+	Splice_Site	DEL	TTACCTTCACGGCC	TTACCTTCACGGCC	-	rs141069437		TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr3:127820398_127820411delTTACCTTCACGGCC	ENST00000464873.1	-	5	1164_1174	c.423_splice	c.e5+1	p.G138_splice	RUVBL1_ENST00000322623.5_Splice_Site_p.G198_splice|RUVBL1_ENST00000417360.1_Splice_Site_p.G198_splice			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	198					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.A199A(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		AAGGAAGGCATTACCTTCACGGCCCCACTGTTGG	0.458													60	242	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	TT	rs55992531	by1000genomes	TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr3:195400918_195400919insTT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													5	5	---	---	---	---					
MIRLET7DHG	158257	broad.mit.edu	37	9	96941099	96941100	+	RNA	INS	-	-	A			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr9:96941099_96941100insA	ENST00000416309.2	-	0	164				RP11-2B6.3_ENST00000602703.1_lincRNA	NR_046163.1																						AGACCAGCAAGAAAAAAAAAAT	0.376													4	8	---	---	---	---					
AS3MT	57412	broad.mit.edu	37	10	104629891	104629892	+	Frame_Shift_Ins	INS	-	-	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr10:104629891_104629892insT	ENST00000369880.3	+	3	170_171	c.93_94insT	c.(91-96)gggtgtfs	p.C32fs	C10ORF32_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	32					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AGACCAACGGCTGTGTCACCAC	0.594													7	81	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65270050	65270051	+	RNA	DEL	TC	TC	-			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr11:65270050_65270051delTC	ENST00000534336.1	+	0	4818_4819					NR_002819.2																						AGCTTGAATGTCTCTTAGAGGG	0.322													18	59	---	---	---	---					
SLC4A8	9498	broad.mit.edu	37	12	51868921	51868922	+	Frame_Shift_Ins	INS	-	-	T			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr12:51868921_51868922insT	ENST00000453097.2	+	16	2320_2321	c.2103_2104insT	c.(2101-2106)ctttttfs	p.LF701fs	SLC4A8_ENST00000514353.3_Frame_Shift_Ins_p.LF648fs|SLC4A8_ENST00000394856.1_Frame_Shift_Ins_p.LF648fs|SLC4A8_ENST00000358657.3_Frame_Shift_Ins_p.LF728fs	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	701					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.F702I(4)|p.F649I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCTGTATTCTCTTTTTCACCAC	0.480													52	69	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578537	7578537	+	Frame_Shift_Del	DEL	G	G	-			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr17:7578537delG	ENST00000420246.2	-	5	525	c.393delC	c.(391-393)aafs	p.N131fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.N131fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.N131fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N131fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N131fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.N131fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	131	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N131del(11)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131fs*39(3)|p.N131fs*27(2)|p.N131K(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.N38fs*39(1)|p.Y126fs*11(1)|p.A129_N131delALN(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.N131N(1)|p.L130fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAAACATCTTGTTGAGGGCAG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	12	---	---	---	---					
MAP3K14	9020	broad.mit.edu	37	17	43350961	43350966	+	RNA	DEL	GAGCAC	GAGCAC	-			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr17:43350961_43350966delGAGCAC	ENST00000344686.2	-	0	1666_1671							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CGCTGGACAGGAGCACGTTGTCAGCT	0.631													11	36	---	---	---	---					
SIGLEC12	89858	broad.mit.edu	37	19	52003419	52003419	+	Frame_Shift_Del	DEL	C	C	-			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr19:52003419delC	ENST00000291707.3	-	2	618	c.563delG	c.(562-564)gafs	p.G188fs	SIGLEC12_ENST00000598614.1_Frame_Shift_Del_p.G70fs	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	188	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GAACCAGGATCCATAAACAGG	0.542													16	143	---	---	---	---					
DGCR5	26220	broad.mit.edu	37	22	18973380	18973380	+	RNA	DEL	C	C	-			TCGA-71-8520-01A-11D-2393-08	TCGA-71-8520-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e59ec685-642c-4c77-93ad-aa88141e71a3	0deb7230-cf38-4b53-8503-7238ce7a1209	g.chr22:18973380delC	ENST00000438934.1	+	0	145				DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000399539.3_RNA																							GCCCTCCTGGCCCCGGCCACC	0.682													2	4	---	---	---	---					
