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
DIS3L2	129563	broad.mit.edu	37	2	233164818	233164818	+	Silent	SNP	C	C	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr2:233164818C>G	ENST00000325385.7	+	14	2004	c.1728C>G	c.(1726-1728)cgC>cgG	p.R576R	DIS3L2_ENST00000409307.1_Silent_p.R576R|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	576							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ATGAGTACCGCGAGAGCAACA	0.478000													29	13					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													4	140					0	0	1	0	0
PCSK1N	27344	broad.mit.edu	37	X	48690632	48690632	+	Silent	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:48690632C>T	ENST00000218230.5	-	2	334	c.234G>A	c.(232-234)gcG>gcA	p.A78A	PCSK1N_ENST00000476838.1_Intron	NM_013271.2	NP_037403.1	Q9UHG2	PCSK1_HUMAN	proprotein convertase subtilisin/kexin type 1 inhibitor	78	ProSAAS(1-180) (By similarity).				neuropeptide signaling pathway	extracellular space|soluble fraction	receptor binding										GATGCGCCAGCGCCCGCGCCA	0.761000													8	6					0	0	1	0	0
FAM104B	90736	broad.mit.edu	37	X	55185586	55185586	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:55185586G>C	ENST00000425133.2	-	2	134	c.96C>G	c.(94-96)atC>atG	p.I32M	FAM104B_ENST00000472571.2_Missense_Mutation_p.I32M|FAM104B_ENST00000489298.1_Missense_Mutation_p.I31M|FAM104B_ENST00000358460.4_Missense_Mutation_p.I32M|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000477847.2_Missense_Mutation_p.I29M|FAM104B_ENST00000332132.4_Missense_Mutation_p.I32M	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	32										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						AATCCTGAAAGATAGGGTTTC	0.378000													6	95					0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99812466	99812466	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr4:99812466A>G	ENST00000450253.2	-	3	1667	c.143T>C	c.(142-144)tTt>tCt	p.F48S	EIF4E_ENST00000280892.6_Missense_Mutation_p.F68S|EIF4E_ENST00000504432.1_Missense_Mutation_p.F76S|EIF4E_ENST00000505992.1_Missense_Mutation_p.F48S	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	48					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		ATCATTTTTAAAAAACCAgag	0.348000													3	30					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268911	30268911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:30268911G>T	ENST00000378981.3	+	4	622	c.301G>T	c.(301-303)Gag>Tag	p.E101*	MAGEB1_ENST00000397548.2_Nonsense_Mutation_p.E101*|MAGEB1_ENST00000397550.1_Nonsense_Mutation_p.E101*	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	101										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AACATCCACTGAGAGCTCAGT	0.483000													18	43					3.41278e-10	3.6378e-10	1	1	0
SLC26A7	115111	broad.mit.edu	37	8	92352771	92352771	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr8:92352771G>A	ENST00000276609.3	+	8	1257	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	SLC26A7_ENST00000523719.1_Missense_Mutation_p.D340N|SLC26A7_ENST00000309536.2_Missense_Mutation_p.D340N	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	340						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTCAATTGATGACAACCAGGT	0.453000													32	53					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31976187	31976187	+	RNA	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr6:31976187C>T	ENST00000342991.6	+	0	1930					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										TGGGGCAGGACCGATGCCAGC	0.622000													4	27					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063389	76063389	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr11:76063389C>T	ENST00000260045.3	-	5	910	c.805G>A	c.(805-807)Gac>Aac	p.D269N		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	269					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CCTGCTATGTCCACTACATCG	0.453000													11	53					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45506179	45506179	+	Silent	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr1:45506179G>A	ENST00000359600.5	-	7	1846	c.1641C>T	c.(1639-1641)gaC>gaT	p.D547D		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	547							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AACGCAGGGCGTCAACTCGAG	0.443000													17	48					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123787525	123787525	+	Missense_Mutation	SNP	T	T	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:123787525T>G	ENST00000422452.2	-	7	1340	c.1277A>C	c.(1276-1278)cAt>cCt	p.H426P	TENM1_ENST00000371130.3_Missense_Mutation_p.H426P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATATATTGGATGGTGGATAGT	0.433000													133	180					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131803197	131803197	+	Silent	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:131803197G>A	ENST00000521489.1	-	5	1426	c.1011C>T	c.(1009-1011)aaC>aaT	p.N337N	HS6ST2-AS1_ENST00000455269.1_RNA|HS6ST2_ENST00000406696.3_Intron|HS6ST2_ENST00000370837.1_Intron|HS6ST2_ENST00000370836.2_Intron|HS6ST2_ENST00000370833.2_Silent_p.N191N	NM_001077188.1	NP_001070656.1	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	316						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TGGCGCCTGCGTTAGTGTTTG	0.428000													5	64					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3686075	3686075	+	Missense_Mutation	SNP	C	C	T	rs17852024		TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr12:3686075C>T	ENST00000382622.3	+	7	1141	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	PRMT8_ENST00000452611.2_Missense_Mutation_p.R242W|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	251					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GACCTGCATCCGGGACGTGGC	0.572000													275	139					0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46890676	46890676	+	Silent	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr19:46890676G>A	ENST00000012443.4	+	9	1204	c.1101G>A	c.(1099-1101)cgG>cgA	p.R367R	PPP5C_ENST00000391919.1_Silent_p.R239R	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	367	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		ATGACATCCGGAAAATTGAGC	0.617000													24	26					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27432511	27432511	+	Silent	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr1:27432511G>A	ENST00000263980.3	-	5	1925	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	SLC9A1_ENST00000545949.1_Silent_p.F111F|SLC9A1_ENST00000374086.3_Silent_p.F450F	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	450					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)	AGGCGATGATGAACTGGTCCT	0.602000													19	16					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46099208	46099208	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr1:46099208G>A	ENST00000355105.3	-	10	2357	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000290795.3_Missense_Mutation_p.R333W	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCTCCATTCCGGTCATCCTTC	0.498000													14	67					0	0	1	0	0
MRPL45	84311	broad.mit.edu	37	17	36455403	36455403	+	Silent	SNP	C	C	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr17:36455403C>A	ENST00000312513.5	+	3	492	c.331C>A	c.(331-333)Cga>Aga	p.R111R		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	111					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGAACTGAACGAATGAAGAA	0.393000													42	66					1.82294e-38	2.13042e-38	1	1	0
NFASC	23114	broad.mit.edu	37	1	204948613	204948613	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr1:204948613G>A	ENST00000367172.4	+	19	2430	c.2102G>A	c.(2101-2103)cGt>cAt	p.R701H	NFASC_ENST00000513543.1_Missense_Mutation_p.R697H|NFASC_ENST00000338515.6_Missense_Mutation_p.R701H|NFASC_ENST00000401399.1_Missense_Mutation_p.R701H|NFASC_ENST00000367170.4_Missense_Mutation_p.R701H|NFASC_ENST00000338586.6_Missense_Mutation_p.R701H|NFASC_ENST00000367171.4_Missense_Mutation_p.R686H|NFASC_ENST00000404907.1_Missense_Mutation_p.R697H|NFASC_ENST00000539706.1_Missense_Mutation_p.R697H|NFASC_ENST00000367169.4_Missense_Mutation_p.R701H|NFASC_ENST00000339876.6_Missense_Mutation_p.R701H|NFASC_ENST00000360049.4_Missense_Mutation_p.R697H|NFASC_ENST00000404076.1_Missense_Mutation_p.R680H			O94856	NFASC_HUMAN	neurofascin	701	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TACCAGTTCCGTGTCATTGCC	0.607000													29	168					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67188758	67188758	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr17:67188758C>T	ENST00000269081.4	-	17	2726	c.1817G>A	c.(1816-1818)tGt>tAt	p.C606Y	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	606	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGATCCTGCACATTTCAACTT	0.308000													93	28					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873242	55873242	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr11:55873242G>A	ENST00000313503.1	+	1	724	c.724G>A	c.(724-726)Gtc>Atc	p.V242I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V242I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCTACTTGCGTCTCTCATCT	0.383000										HNSCC(53;0.14)			31	87					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114199020	114199020	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr4:114199020G>T	ENST00000357077.4	+	16	1764	c.1711G>T	c.(1711-1713)Gcc>Tcc	p.A571S	ANK2_ENST00000506722.1_Missense_Mutation_p.A550S|ANK2_ENST00000394537.3_Missense_Mutation_p.A571S|ANK2_ENST00000264366.6_Missense_Mutation_p.A571S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	571					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCATGTAGCAGCCAAGTATGG	0.378000													12	56					7.03913e-09	7.42169e-09	1	1	0
TSPYL2	64061	broad.mit.edu	37	X	53112000	53112000	+	Missense_Mutation	SNP	A	A	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:53112000A>T	ENST00000375442.4	+	1	452	c.320A>T	c.(319-321)gAg>gTg	p.E107V		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	107					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GGGTATGGGGAGGCGCCCCCG	0.622000													5	47					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26112159	26112159	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr13:26112159G>C	ENST00000381655.2	+	7	683	c.541G>C	c.(541-543)Ggg>Cgg	p.G181R	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G141R	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	141					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGTCGTCAATGGGCAGTATCT	0.438000													20	36					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487183	51487183	+	Missense_Mutation	SNP	A	A	C			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:51487183A>C	ENST00000340438.4	+	1	703	c.461A>C	c.(460-462)aAa>aCa	p.K154T		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	154					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GAGCACAGTAAAGAAGTAAGT	0.483000													17	41					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233152744	233152744	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr1:233152744G>A	ENST00000258229.8	-	27	4996	c.4762C>T	c.(4762-4764)Ctc>Ttc	p.L1588F	PCNXL2_ENST00000344698.2_Missense_Mutation_p.L240F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1588						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATCCCCTGGAGACACGGGACG	0.488000													22	40					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100534105	100534105	+	Silent	SNP	C	C	T	rs79023226	byFrequency	TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr4:100534105C>T	ENST00000457717.1	+	16	2281	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.I702I|MTTP_ENST00000265517.5_Silent_p.I675I	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	675					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AAGCCTTAATCGCAGCCACCC	0.483000													18	123					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5788165	5788165	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr19:5788165C>T	ENST00000309061.7	-	5	1061	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	DUS3L_ENST00000320699.8_Missense_Mutation_p.R80Q	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	322					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTTGCAGATCCGTCGGAAGGG	0.612000													10	40					0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102979197	102979197	+	Silent	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:102979197C>T	ENST00000372617.4	-	4	723	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	101						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGTCATTCCACTGTTGCCGCA	0.557000													29	217					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74295409	74295409	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:74295409C>G	ENST00000253577.3	-	6	670	c.646G>C	c.(646-648)Ggc>Cgc	p.G216R	ABCB7_ENST00000339447.4_Missense_Mutation_p.G175R|ABCB7_ENST00000373394.3_Missense_Mutation_p.G215R	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	215	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCTACCTTGCCAAATACTGCA	0.398000													8	97					0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34020713	34020713	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr5:34020713C>G	ENST00000382065.3	-	6	1641	c.935G>C	c.(934-936)gGa>gCa	p.G312A	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.G239A	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	239						collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GAGCAGGAATCCTGCAAAGGT	0.468000													14	257					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12878664	12878664	+	Silent	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr19:12878664G>A	ENST00000264827.5	-	13	1439	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.C423C	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	423	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GCAGCTGGGCGCAGCGCAGCT	0.657000													26	16					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1																						CTGGGATGTACGTCTGCGTTG	0.488000													4	69					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272903	65272903	+	RNA	SNP	A	A	C			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr11:65272903A>C	ENST00000534336.1	+	0	7671					NR_002819.2																						AGCTCTTAATAATAAAGCCCA	0.463000													12	86					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21734264	21734264	+	Silent	SNP	A	A	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr16:21734264A>G	ENST00000388958.3	+	17	1846	c.1845A>G	c.(1843-1845)agA>agG	p.R615R	OTOA_ENST00000388957.3_Silent_p.R291R|OTOA_ENST00000388956.4_Silent_p.R536R|OTOA_ENST00000286149.4_Silent_p.R629R	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	629					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAGTTTCCAGATTGTCTATGC	0.453000													15	40					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153549137	153549137	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:153549137C>T	ENST00000369915.3	+	8	1252	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	TKTL1_ENST00000217905.7_Missense_Mutation_p.R95W|TKTL1_ENST00000369912.2_Missense_Mutation_p.R299W	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	355					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					CTCCCGTGGACGGACCATTGC	0.557000													56	286					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126056121	126056121	+	Silent	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr8:126056121G>A	ENST00000318410.7	-	23	3145	c.2796C>T	c.(2794-2796)tcC>tcT	p.S932S	KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Silent_p.S784S	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	932					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGGCAATGGCGGAAAAATAAA	0.353000													3	47					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723304	49723304	+	Silent	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr3:49723304C>T	ENST00000449682.2	-	10	1600	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	399	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682000													4	123					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371641	109371641	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr2:109371641A>G	ENST00000283195.6	+	17	2518	c.2392A>G	c.(2392-2394)Aaa>Gaa	p.K798E		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	798					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTATTCTCCCAAAACACCACC	0.323000													5	269					0	0	1	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67560622	67560622	+	RNA	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr11:67560622G>A	ENST00000528089.1	-	0	1128																											TCCCACTAGAGTGACTTGATT	0.428000													25	52					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28327033	28327033	+	Translation_Start_Site	SNP	G	G	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr15:28327033G>T	ENST00000354638.3	-	0	143				OCA2_ENST00000353809.5_De_novo_Start_OutOfFrame|OCA2_ENST00000382996.2_De_novo_Start_OutOfFrame	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II						eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TCCACTGCCAGTCTTCTCTCT	0.602000									Oculocutaneous Albinism				15	8					1.52009e-12	1.67556e-12	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9108295	9108295	+	Missense_Mutation	SNP	C	C	T	rs144597943		TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr5:9108295C>T	ENST00000382496.5	-	16	2695	c.2030G>A	c.(2029-2031)cGc>cAc	p.R677H		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	677	TSP type-1 3.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACAGATCCTGCGGCGAGCTTG	0.557000													6	77					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382254	41382254	+	Silent	SNP	C	C	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr5:41382254C>A	ENST00000377801.3	-	2	560	c.486G>T	c.(484-486)ctG>ctT	p.L162L	PLCXD3_ENST00000328457.3_Silent_p.L162L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	162	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGATGTCTTTCAGCATTTGGA	0.418000													23	287					3.5997e-14	4.01346e-14	1	1	0
RYR2	6262	broad.mit.edu	37	1	237754009	237754009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr1:237754009C>T	ENST00000366574.2	+	31	4194	c.3877C>T	c.(3877-3879)Cag>Tag	p.Q1293*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q1277*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q1291*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1293	4 X approximate repeats.				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)			TTTTGGTTCTCAGAACAGCAA	0.512000													29	204					0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77209682	77209682	+	Silent	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr12:77209682C>T	ENST00000426126.2	+	7	1303	c.654C>T	c.(652-654)aaC>aaT	p.N218N	ZDHHC17_ENST00000334822.5_Silent_p.N218N|ZDHHC17_ENST00000359019.4_Silent_p.N168N	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	218					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTTCAGTTAACCTTGGTGACA	0.373000													3	6					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371669	109371669	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr2:109371669A>G	ENST00000283195.6	+	17	2546	c.2420A>G	c.(2419-2421)cAg>cGg	p.Q807R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	807					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCAGAAGATCAGAATTCTTTA	0.333000													6	304					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197004496	197004496	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr2:197004496C>A	ENST00000263955.4	-	7	970	c.684G>T	c.(682-684)ttG>ttT	p.L228F	STK17B_ENST00000409228.1_Missense_Mutation_p.L228F	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	228	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TGTGAGTTAACAACATATATG	0.299000													50	34					6.3008e-33	7.27593e-33	1	1	0
FCRL2	79368	broad.mit.edu	37	1	157737032	157737032	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr1:157737032A>G	ENST00000361516.3	-	6	1199	c.1151T>C	c.(1150-1152)gTc>gCc	p.V384A	FCRL2_ENST00000392274.3_Missense_Mutation_p.V384A|FCRL2_ENST00000469986.1_Missense_Mutation_p.V131A|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	384	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGAGATGGAGACTGGCACTGC	0.557000													19	83					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618228	175618228	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr2:175618228C>T	ENST00000409323.1	-	6	839	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	CHRNA1_ENST00000409542.1_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Intron|CHRNA1_ENST00000348749.5_Intron|CHRNA1_ENST00000409219.1_Intron			P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	0					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CAACCACACCCACCTGAGTCT	0.537000													31	215					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7225208	7225208	+	Silent	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr17:7225208C>T	ENST00000399464.2	-	17	2862	c.2847G>A	c.(2845-2847)gaG>gaA	p.E949E	NEURL4_ENST00000315614.7_Silent_p.E947E|NEURL4_ENST00000570460.1_Silent_p.E925E	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCCCTCAGCTCCTTGGTAC	0.567000													50	22					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6776960	6776960	+	RNA	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr7:6776960C>T	ENST00000486256.1	+	0	1087					NR_002217.1																						CTGACAAAGGCGTCCTGAGAC	0.557000													25	91					0	0	1	0	0
BAK1	578	broad.mit.edu	37	6	33541875	33541875	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr6:33541875C>A	ENST00000374467.3	-	5	715	c.467G>T	c.(466-468)cGc>cTc	p.R156L	BAK1_ENST00000360661.5_Missense_Mutation_p.R156L|BAK1_ENST00000442998.2_3'UTR	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	156					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GACCACGAAGCGGGTCACCTG	0.597000													25	39					9.57634e-11	1.03212e-10	1	1	0
KIT	3815	broad.mit.edu	37	4	55593652	55593652	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr4:55593652C>T	ENST00000288135.5	+	11	1815	c.1718C>T	c.(1717-1719)cCa>cTa	p.P573L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	573					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.Y570_L576del(9)|p.P573L(4)|p.V560_L576del(4)|p.Y553_T574>S(3)|p.V555_P573del(3)|p.I563_L576del(2)|p.Q556_L576del(2)|p.N564_Y578del(2)|p.W557_Q575del(2)|p.N564_L576del(2)|p.I571_L576del(2)|p.Y568_T574del(2)|p.Y568_L576>CV(1)|p.N564_T574del(1)|p.K558_Q575del(1)|p.M552_T574>TESA(1)|p.N567_L576>E(1)|p.E561_P577del(1)|p.I571_N587del(1)|p.V569_L576>G(1)|p.V569_L576del(1)|p.K558_L576>NV(1)|p.V569_Q575del(1)|p.N564_P577del(1)|p.V559_L576del(1)|p.Q556_T574del(1)|p.E562_P573del(1)|p.Q556_P573del(1)|p.N567_P573del(1)|p.Y570_L576delYIDPTQL(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACATAGACCCAACACAACTT	0.413000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				12	41					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65722703	65722703	+	Silent	SNP	A	A	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr17:65722703A>G	ENST00000253247.4	+	7	907	c.792A>G	c.(790-792)gcA>gcG	p.A264A	NOL11_ENST00000535137.1_Silent_p.A82A	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	264						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGGAGTTGCACTCACTGCCC	0.458000													38	17					0	0	1	0	0
SCARA5	286133	broad.mit.edu	37	8	27779614	27779614	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr8:27779614G>T	ENST00000354914.3	-	4	875	c.390C>A	c.(388-390)gaC>gaA	p.D130E	SCARA5_ENST00000518030.1_Missense_Mutation_p.D87E|SCARA5_ENST00000524352.1_Missense_Mutation_p.D130E|SCARA5_ENST00000301906.4_Missense_Mutation_p.D87E|SCARA5_ENST00000380385.2_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	130					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TCTGCAGCGCGTCCTGCACCT	0.687000													8	5					0.00307968	0.00321214	1	1	0
ABCC9	10060	broad.mit.edu	37	12	22025639	22025639	+	Silent	SNP	T	T	C			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr12:22025639T>C	ENST00000261200.4	-	16	2117	c.2118A>G	c.(2116-2118)caA>caG	p.Q706Q	ABCC9_ENST00000261201.4_Silent_p.Q706Q|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.Q670Q	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	706	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CACATCCTACTTGGCCCACAA	0.403000													141	61					0	0	1	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67210803	67210803	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr16:67210803C>G	ENST00000290881.7	-	8	2253	c.1327G>C	c.(1327-1329)Gac>Cac	p.D443H	KIAA0895L_ENST00000561679.1_Missense_Mutation_p.D288H|KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.D443H|KIAA0895L_ENST00000563831.2_5'UTR			Q68EN5	K895L_HUMAN	KIAA0895-like	443										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CGTGCCAAGTCCTGCATGAAG	0.637000													64	93					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109086202	109086202	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr2:109086202G>A	ENST00000309863.6	+	6	1131	c.417G>A	c.(415-417)atG>atA	p.M139I	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	139					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	p.M139I(1)		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						ATGAGTTGATGGCAGTACGTT	0.333000													78	25					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455257	29455257	+	Silent	SNP	G	G	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr6:29455257G>T	ENST00000377127.3	-	1	481	c.423C>A	c.(421-423)gtC>gtA	p.V141V		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	141						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TAAAAAACACGACTCCATGAT	0.507000													24	75					4.54149e-19	5.12237e-19	1	1	0
SUMF2	25870	broad.mit.edu	37	7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr7:56142409C>T	ENST00000434526.2	+	5	603	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	127					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	25					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560		TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAATGGAGGAATTTGTACAGA	0.393000													5	240					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105970359	105970359	+	Silent	SNP	C	C	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:105970359C>A	ENST00000255499.2	+	1	466	c.216C>A	c.(214-216)ggC>ggA	p.G72G	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	72						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GCGTGTACGGCCAGGACTCGC	0.672000													4	59					0.014758	0.0149117	1	1	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	101						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617000													6	239					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760437	54760437	+	Silent	SNP	A	A	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr19:54760437A>G	ENST00000450632.1	-	3	347	c.270T>C	c.(268-270)taT>taC	p.Y90Y	LILRB5_ENST00000316219.5_Silent_p.Y90Y|LILRB5_ENST00000345866.6_Silent_p.Y90Y|LILRB5_ENST00000449561.2_Silent_p.Y90Y			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	90	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCACTGTCATACACCGTGG	0.602000													138	99					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144175	11144175	+	Silent	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr19:11144175G>A	ENST00000358026.2	+	26	4040	c.3756G>A	c.(3754-3756)gaG>gaA	p.E1252E	SMARCA4_ENST00000590574.1_Silent_p.E1252E|SMARCA4_ENST00000541122.2_Silent_p.E1252E|SMARCA4_ENST00000589677.1_Silent_p.E1252E|SMARCA4_ENST00000344626.4_Silent_p.E1252E|SMARCA4_ENST00000450717.3_Silent_p.E1252E|SMARCA4_ENST00000444061.3_Silent_p.E1252E|SMARCA4_ENST00000429416.3_Silent_p.E1252E|SMARCA4_ENST00000413806.3_Silent_p.E1252E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1252					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCATCCTGGAGCACGAGGAGC	0.597000			"""F, N, Mis"""		NSCLC								36	60					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812205	140812205	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr5:140812205C>T	ENST00000252085.3	+	1	2021	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGGTGCGCACGGCGCG	0.687000													4	101					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144833	25144833	+	RNA	SNP	A	A	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr13:25144833A>G	ENST00000453498.1	+	0	374																											GGAGCCGCAAATATGGGAACT	0.443000													4	59					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3679971	3679971	+	Silent	SNP	C	C	T	rs148606883	byFrequency	TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr1:3679971C>T	ENST00000294600.2	+	7	1338	c.1254C>T	c.(1252-1254)taC>taT	p.Y418Y		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	418	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGGAGGAGTACGAGCAGGTCA	0.637000													15	70					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													4	183					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13883105	13883105	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr5:13883105C>G	ENST00000265104.4	-	20	3186	c.3082G>C	c.(3082-3084)Gaa>Caa	p.E1028Q	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1028	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTACATCTTCCAGGGCAGGG	0.532000									Kartagener syndrome				31	259					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148564646	148564646	+	Silent	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chrX:148564646G>A	ENST00000340855.6	-	9	1493	c.1284C>T	c.(1282-1284)caC>caT	p.H428H	AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Silent_p.H217H|IDS_ENST00000537071.1_Silent_p.H31H	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	428						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACAGCTCAACGTGAAATGAAG	0.527000													91	126					0	0	1	0	0
YIPF4	84272	broad.mit.edu	37	2	32530695	32530695	+	Nonstop_Mutation	SNP	A	A	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr2:32530695A>T	ENST00000238831.3	+	6	981	c.735A>T	c.(733-735)tgA>tgT	p.*245C		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	0						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTGGTGTGTGATCCAAGTTAT	0.328000													18	11					0	0	1	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32834330	32834330	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr18:32834330G>T	ENST00000420878.3	-	5	1024	c.569C>A	c.(568-570)gCt>gAt	p.A190D	ZNF397_ENST00000589420.1_3'UTR|ZNF397_ENST00000355632.4_Missense_Mutation_p.A231S|ZNF397_ENST00000261333.6_Missense_Mutation_p.A261S|ZNF397_ENST00000592264.1_Intron|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.A190D	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	190					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						CACTTTGCCAGCCACCATCCT	0.418000													5	83					0.014758	0.0149117	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140166115	140166115	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr5:140166115G>T	ENST00000504120.2	+	1	240	c.240G>T	c.(238-240)caG>caT	p.Q80H	PCDHA1_ENST00000394633.3_Missense_Mutation_p.Q80H|PCDHA1_ENST00000378133.3_Missense_Mutation_p.Q80H	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAATCTGCAGAATGGCATTT	0.602000													19	142					1.56452e-12	1.70516e-12	1	1	0
LOC150776	150776	broad.mit.edu	37	2	132259054	132259054	+	RNA	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr2:132259054G>A	ENST00000438378.2	+	0	1004					NR_026922.1																						TCCAGCCCAGGGGGGACCAGC	0.617000													28	12					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578401	7578401	+	Missense_Mutation	SNP	G	G	T	rs147002414		TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr17:7578401G>T	ENST00000420246.2	-	5	661	c.529C>A	c.(529-531)Ccc>Acc	p.P177T	TP53_ENST00000269305.4_Missense_Mutation_p.P177T|TP53_ENST00000359597.4_Missense_Mutation_p.P177T|TP53_ENST00000413465.2_Missense_Mutation_p.P177T|TP53_ENST00000445888.2_Missense_Mutation_p.P177T|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.P177T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; 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.P177_C182delPHHERC(8)|p.0?(8)|p.P177S(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.H178fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.P177T(1)|p.E171fs*61(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)		TCATGGTGGGGGCAGCGCCTC	0.652000		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)			65	22					1.7104e-27	1.95187e-27	1	1	0
CDH4	1002	broad.mit.edu	37	20	60318831	60318831	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr20:60318831C>T	ENST00000360469.5	+	3	470	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	RP11-429E11.2_ENST00000447909.1_RNA|RP11-429E11.2_ENST00000442888.1_RNA|CDH4_ENST00000543233.1_Missense_Mutation_p.H54Y	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	128					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTCGTCCCCGCACTCTGGACA	0.642000													4	20					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397415	125397415	+	Silent	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr12:125397415G>A	ENST00000536769.1	-	1	2479	c.903C>T	c.(901-903)ctC>ctT	p.L301L	UBC_ENST00000546120.1_Silent_p.L225L|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.L301L			P0CG48	UBC_HUMAN	ubiquitin C	301	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.532000													5	207					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052013	9052013	+	Silent	SNP	C	C	T	rs145965659	byFrequency	TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr5:9052013C>T	ENST00000382496.5	-	20	3482	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	939	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAAACACACACGGCCGGCTCT	0.517000													49	31					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385660	58385660	+	Silent	SNP	G	G	A	rs145939189	by1000genomes	TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr19:58385660G>A	ENST00000435989.2	-	3	1332	c.1098C>T	c.(1096-1098)agC>agT	p.S366S	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	366					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GATTACTGAAGCTAACATATT	0.358000													4	6					0	0	1	0	0
BCKDK	10295	broad.mit.edu	37	16	31122024	31122024	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr16:31122024A>G	ENST00000394951.1	+	9	1281	c.658A>G	c.(658-660)Atc>Gtc	p.I220V	BCKDK_ENST00000394950.3_Missense_Mutation_p.I220V|BCKDK_ENST00000287507.3_Missense_Mutation_p.I220V|BCKDK_ENST00000219794.6_Missense_Mutation_p.I220V			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	220	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CTTTGTCGGCATCATCTGTAC	0.577000													28	109					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27777780	27777780	+	Silent	SNP	G	G	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr16:27777780G>A	ENST00000261588.4	+	20	3979	c.3960G>A	c.(3958-3960)gaG>gaA	p.E1320E		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1320										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AATCTCCCGAGGACACCTATC	0.617000													9	44					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80328223	80328223	+	Silent	SNP	C	C	T	rs138628835		TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr14:80328223C>T	ENST00000281127.7	+	6	2094	c.1215C>T	c.(1213-1215)aaC>aaT	p.N405N	NRXN3_ENST00000335750.5_Silent_p.N1034N|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Silent_p.N610N|NRXN3_ENST00000428277.2_Silent_p.N432N|NRXN3_ENST00000554719.1_Silent_p.N1034N	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	610					angiogenesis|cell adhesion	integral to membrane		p.N432N(1)|p.N1034N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCAGAGCAACGGCACGCTCA	0.527000													4	44					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227935682	227935682	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr1:227935682C>G	ENST00000366759.4	+	2	794	c.380C>G	c.(379-381)tCc>tGc	p.S127C	SNAP47_ENST00000315781.5_Missense_Mutation_p.S127C|SNAP47_ENST00000366760.1_Intron	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	127						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTTCAGCTCCCTGCGGCCA	0.552000													8	78					0	0	1	0	0
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													7	65	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr2:97808574_97808575insA	ENST00000420699.2	+	8	1145		c.e8+2		ANKRD36_ENST00000461153.2_Splice_Site	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													6	6	---	---	---	---					
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													2	4	---	---	---	---					
RP11-242J7.1	0	broad.mit.edu	37	4	185536410	185536413	+	RNA	DEL	TTTG	TTTG	-	rs146473442		TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr4:185536410_185536413delTTTG	ENST00000522554.1	-	0	292																											CAAAGCCGATtttgtttgtttgtt	0.451													3	3	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438		TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaa>aa	p.KELREA745del	EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del|EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	745	Protein kinase.				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.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(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)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			17	50	---	---	---	---					
KCP	375616	broad.mit.edu	37	7	128544320	128544321	+	RNA	DEL	AC	AC	-			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr7:128544320_128544321delAC	ENST00000476647.2	-	0	615							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region				central_nervous_system(1)|endometrium(3)	4						gcagggcaggacagggcaggAG	0.649											OREG0018302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs145490621	by1000genomes	TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)cat>cTCTat	p.143_143H>LY		NM_001199938.1	NP_001186867.1			endogenous Bornavirus-like nucleoprotein 1																		CAATGCCTATCAGATCACAGCA	0.455													5	2	---	---	---	---					
ZC3H12C	85463	broad.mit.edu	37	11	109964147	109964148	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr11:109964147_109964148delGG	ENST00000278590.3	+	1	61_62	c.10_11delGG	c.(10-12)cfs	p.G5fs		NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	5							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TATGCCGGGTGGCGGCTCCCAG	0.807													2	4	---	---	---	---					
BAZ1A	11177	broad.mit.edu	37	14	35331423	35331423	+	Frame_Shift_Del	DEL	T	T	-			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr14:35331423delT	ENST00000360310.1	-	3	786	c.219delA	c.(217-219)aafs	p.K73fs	BAZ1A_ENST00000358716.4_Frame_Shift_Del_p.K73fs|BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000382422.2_Frame_Shift_Del_p.K73fs	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	73	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TCTGTCTTGCTTTTTTTTCTG	0.428													10	1915	---	---	---	---					
PSMA6	5687	broad.mit.edu	37	14	35782216	35782216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr14:35782216delA	ENST00000261479.4	+	5	659	c.539delA	c.(538-540)gafs	p.E180fs	PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AGCTTCCTTGAAAAAAAAGTG	0.403													11	1815	---	---	---	---					
DPPA3P2	400206	broad.mit.edu	37	14	36841115	36841115	+	RNA	DEL	T	T	-			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr14:36841115delT	ENST00000557188.1	+	0	746																											TTCTTGCACCTTTTTTTCTTG	0.358													9	1279	---	---	---	---					
TMEM97	27346	broad.mit.edu	37	17	26653807	26653807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr17:26653807delA	ENST00000226230.6	+	3	664	c.519delA	c.(517-519)agfs	p.R173fs	TMEM97_ENST00000336687.6_Frame_Shift_Del_p.R66fs|TMEM97_ENST00000583381.1_Frame_Shift_Del_p.R66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AAGAGAAAAGAAAAAAAAAAT	0.438													7	92	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-62-8402-01A-11D-2323-08	TCGA-62-8402-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82c0c81-42ac-491d-89c5-b1ee87855852	8cb938c8-f7ee-4310-b094-6384c28ffa29	g.chr22:38119882_38119884delCCT	ENST00000406386.3	+	7	1574_1576	c.1319_1321delCCT	c.(1318-1323)gcc>g	p.AS440del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	440					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													10	212	---	---	---	---