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
PCDHA6	0	broad.mit.edu	37	5	140208013	140208013	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:140208013C>A	ENST00000529310.1	+	1	451	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGACAGGCCGCTGCAGGT	0.562000													22	218					1.17739e-12	1.43134e-12	0.693898	1	0
ELP2	55250	broad.mit.edu	37	18	33739979	33739979	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr18:33739979G>T	ENST00000358232.6	+	16	1751		c.e16+1		ELP2_ENST00000442325.2_Splice_Site|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000350494.6_Splice_Site|ELP2_ENST00000423854.2_Splice_Site|ELP2_ENST00000542824.1_Splice_Site|ELP2_ENST00000351393.6_Splice_Site	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2						regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTCAAAAACTGTAAGTTAAAC	0.383000													5	55					0.307466	0.3231	0.307466	1	0
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:21806573A>G	ENST00000318220.6	+	14	2118	c.1070A>G	c.(1069-1071)gAg>gGg	p.E357G	NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 2.					cytoplasm		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463000													3	43					0	0	0.115264	0	0
FREM2	341640	broad.mit.edu	37	13	39265996	39265996	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:39265996C>A	ENST00000280481.7	+	1	4731	c.4515C>A	c.(4513-4515)gaC>gaA	p.D1505E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1505					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAAAATGGACAGTTTTGAGT	0.468000													4	111					0.014758	0.0163392	0.184627	1	0
SLC22A4	6583	broad.mit.edu	37	5	131630515	131630515	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:131630515T>A	ENST00000200652.3	+	1	380	c.206T>A	c.(205-207)cTg>cAg	p.L69Q	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	69					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	AGTGTCCCGCTGCGGCTGCGG	0.726000													8	15					0	0	0.361761	0	0
MAP3K5	4217	broad.mit.edu	37	6	136990479	136990479	+	Silent	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr6:136990479C>A	ENST00000359015.4	-	8	1668	c.1308G>T	c.(1306-1308)gcG>gcT	p.A436A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	436					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGAGGAGGACCGCATAATTAA	0.378000													28	109					2.47511e-08	2.84179e-08	0.729181	1	0
FAF1	11124	broad.mit.edu	37	1	51253785	51253785	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:51253785C>T	ENST00000396153.2	-	4	705	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	FAF1_ENST00000371778.4_Missense_Mutation_p.R85Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	85					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(3)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CATTACAGGTCGAAACGCTGA	0.458000													15	46					0	0	0.539581	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037257	129037257	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:129037257C>A	ENST00000274487.4	+	20	3258	c.3113C>A	c.(3112-3114)aCc>aAc	p.T1038N	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1038					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GACTGCATGACCGTGTGGGAG	0.567000													14	85					2.4624e-09	2.93593e-09	0.575678	1	0
BCL6	604	broad.mit.edu	37	3	187447232	187447232	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr3:187447232C>T	ENST00000406870.2	-	5	1327	c.961G>A	c.(961-963)Gca>Aca	p.A321T	RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	321					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTCAGGGGTGCATTGGGGGGC	0.572000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								8	131					0	0	0.307466	0	0
EIF5	1983	broad.mit.edu	37	14	103807368	103807368	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr14:103807368C>T	ENST00000216554.3	+	12	1951	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	EIF5_ENST00000558506.1_Silent_p.D425D|EIF5_ENST00000392715.2_Silent_p.D425D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	425	Asp-rich (acidic).				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	p.D425fs*>5(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGGATGACGACATCGATATTG	0.398000													6	80					0	0	0.278610	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													3	58					0	0	0.150653	0	0
DPPA3P2	0	broad.mit.edu	37	14	36841171	36841171	+	RNA	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr14:36841171A>G	ENST00000557188.1	+	0	802																											CTATGCTAGTATAGACTATAC	0.323000													5	19					0	0	0.217242	0	0
DHTKD1	55526	broad.mit.edu	37	10	12148384	12148384	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:12148384T>G	ENST00000263035.4	+	11	2098	c.2036T>G	c.(2035-2037)tTc>tGc	p.F679C		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	679					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTGACACATTCATCTCTGGA	0.537000													13	196					0	0	0.520397	0	0
PCDHB4	0	broad.mit.edu	37	5	140501672	140501672	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:140501672G>A	ENST00000194152.1	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		31					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCTATTCGTTATTCTGTG	0.527000													5	73					0	0	0.217242	0	0
CTC1	80169	broad.mit.edu	37	17	8138502	8138502	+	Silent	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:8138502A>C	ENST00000315684.8	-	8	1315	c.1308T>G	c.(1306-1308)cgT>cgG	p.R436R		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	436					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAGGCTTCTGACGAGAGAAGC	0.622000													14	91					0	0	0.539581	0	0
TMEM192	201931	broad.mit.edu	37	4	166009709	166009709	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr4:166009709G>A	ENST00000306480.5	-	4	630	c.485C>T	c.(484-486)cCa>cTa	p.P162L	TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	162						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		GCCAGGCTCTGGGAAGGAGTG	0.453000													4	27					0	0	0.217242	0	0
AMZ2P1	0	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													3	99					0	0	0.115264	0	0
ISLR	3671	broad.mit.edu	37	15	74467874	74467874	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr15:74467874G>A	ENST00000249842.3	+	2	1032	c.675G>A	c.(673-675)ccG>ccA	p.P225P	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P225P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	225	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCGCCTGCCGCCACTGCCAT	0.657000													7	56					0	0	0.307466	0	0
TMEM116	89894	broad.mit.edu	37	12	112369540	112369540	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr12:112369540C>T	ENST00000354825.3	-	13	1278	c.623G>A	c.(622-624)cGt>cAt	p.R208H	TMEM116_ENST00000549537.2_Missense_Mutation_p.R114H|TMEM116_ENST00000552374.2_Missense_Mutation_p.R300H|TMEM116_ENST00000550831.3_Missense_Mutation_p.R208H|TMEM116_ENST00000355445.3_Missense_Mutation_p.R265H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R208H			Q8NCL8	TM116_HUMAN	transmembrane protein 116	208						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						ATCTGCATCACGCCGAGCCTC	0.493000													5	100					0	0	0.248553	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456579	30456579	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr16:30456579T>A	ENST00000478753.2	-	1	923	c.470A>T	c.(469-471)aAc>aTc	p.N157I	SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I|SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	157					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACTCAGCACGTTGGCACAAGC	0.542000													16	92					0	0	0.539581	0	0
TCOF1	6949	broad.mit.edu	37	5	149755039	149755039	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:149755039G>A	ENST00000451292.1	+	11	1734	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	TCOF1_ENST00000439160.2_Silent_p.E542E|TCOF1_ENST00000394269.3_Silent_p.E542E|TCOF1_ENST00000377797.3_Silent_p.E542E|TCOF1_ENST00000445265.2_Silent_p.E465E|TCOF1_ENST00000323668.7_Silent_p.E465E|TCOF1_ENST00000504761.2_Silent_p.E542E|TCOF1_ENST00000513346.1_Silent_p.E542E			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	542					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGTGGGAGGAGGACTCAG	0.662000													9	45					0	0	0.361761	0	0
KCNH5	27133	broad.mit.edu	37	14	63453899	63453899	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr14:63453899G>A	ENST00000322893.7	-	5	708	c.440C>T	c.(439-441)aCg>aTg	p.T147M	KCNH5_ENST00000420622.2_Missense_Mutation_p.T147M|KCNH5_ENST00000394964.2_Missense_Mutation_p.T89M|KCNH5_ENST00000394968.1_Missense_Mutation_p.T89M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGCAAATTTCGTCCAACCTTA	0.383000													12	40					0	0	0.435327	0	0
IGHV1OR15-9	0	broad.mit.edu	37	15	20170018	20170018	+	RNA	SNP	C	C	G	rs140304162	by1000genomes	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr15:20170018C>G	ENST00000338912.5	-	0	253																		p.G85A(1)									GGTGACTCTGCCCTGGAACTT	0.547000													4	181					0	0	0.217242	0	0
TTC37	9652	broad.mit.edu	37	5	94848278	94848278	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:94848278C>T	ENST00000358746.2	-	28	3121	c.2823G>A	c.(2821-2823)ttG>ttA	p.L941L	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	941							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTTATCTTGCAATGTTGTGC	0.358000													12	84					0	0	0.479597	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													4	110					0	0	0.150653	0	0
CTC1	80169	broad.mit.edu	37	17	8138518	8138518	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:8138518A>C	ENST00000315684.8	-	8	1299	c.1292T>G	c.(1291-1293)cTt>cGt	p.L431R		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	431					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GAAGCTTTGAAGCAGAACGGC	0.617000													18	93					0	0	0.592651	0	0
FAM187B	148109	broad.mit.edu	37	19	35718888	35718888	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:35718888G>A	ENST00000324675.3	-	1	744	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	232						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AGGGACAGTCGAGCCACACAA	0.502000													6	21					0	0	0.248553	0	0
SYT1	6857	broad.mit.edu	37	12	79611355	79611355	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr12:79611355C>T	ENST00000261205.4	+	4	713	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SYT1_ENST00000393240.3_Missense_Mutation_p.A19V|SYT1_ENST00000457153.2_Missense_Mutation_p.A19V|SYT1_ENST00000552744.1_Missense_Mutation_p.A19V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	19					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCACTGTCGCGACTGTTCTG	0.527000													11	62					0	0	0.387290	0	0
ABCA13	154664	broad.mit.edu	37	7	48390275	48390275	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:48390275G>A	ENST00000435803.1	+	30	10264	c.10240G>A	c.(10240-10242)Gct>Act	p.A3414T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3414					transport	integral to membrane	ATP binding|ATPase activity	p.A3359T(1)|p.A3414T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCATGCAGGCGCTGGACGCTT	0.522000													19	100					0	0	0.592651	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885314	180885314	+	Silent	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:180885314A>G	ENST00000367588.4	+	2	130	c.75A>G	c.(73-75)acA>acG	p.T25T		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	25										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGTGGAACAGCCAGCCCCG	0.617000													11	52					0	0	0.435327	0	0
RP11-14N7.2	0	broad.mit.edu	37	1	148933289	148933289	+	RNA	SNP	A	A	G	rs9729175	by1000genomes	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.1																						TGCTGCCCGCAGGATATTGTG	0.562000													3	21					0	0	0.115264	0	0
WDR90	197335	broad.mit.edu	37	16	703785	703785	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr16:703785G>A	ENST00000549091.1	+	13	1511	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	WDR90_ENST00000293879.4_Silent_p.K473K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	473										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGTTGGCAAGGACCACCACG	0.642000													3	77					0	0	0.115264	0	0
CELSR2	1952	broad.mit.edu	37	1	109803759	109803759	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:109803759A>G	ENST00000271332.3	+	3	4115	c.4054A>G	c.(4054-4056)Aag>Gag	p.K1352E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1352	EGF-like 3; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGCGGTTTCAAGTGCGATTG	0.627000													34	130					0	0	0.819951	0	0
SNAI1	6615	broad.mit.edu	37	20	48600754	48600754	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr20:48600754G>T	ENST00000244050.2	+	2	537	c.476G>T	c.(475-477)tGc>tTc	p.C159F		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	159					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCAAATACTGCAACAAGGAA	0.602000													3	34					0.115264	0.125375	0.115264	1	0
TXNL1	9352	broad.mit.edu	37	18	54278306	54278306	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr18:54278306C>T	ENST00000217515.6	-	7	962	c.758G>A	c.(757-759)gGt>gAt	p.G253D	TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D|TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	253	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TTCCTCTTCACCTTGATTCGA	0.294000													9	41					0	0	0.361761	0	0
PRKCG	5582	broad.mit.edu	37	19	54395835	54395835	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:54395835C>T	ENST00000263431.3	+	7	1041	c.759C>T	c.(757-759)aaC>aaT	p.N253N	PRKCG_ENST00000536044.1_Silent_p.N253N|PRKCG_ENST00000542049.1_Silent_p.N140N|PRKCG_ENST00000540413.1_Silent_p.N253N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	253	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCTCCCGCAACGACTTCATGG	0.672000													8	37					0	0	0.361761	0	0
CCM2L	140706	broad.mit.edu	37	20	30617620	30617620	+	Missense_Mutation	SNP	C	C	T	rs78544950	byFrequency	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr20:30617620C>T	ENST00000300415.8	+	9	1394	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_3'UTR					cerebral cavernous malformation 2-like																		CTACGGAGACCGGCGCAAGTT	0.647000													26	74					0	0	0.740014	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512860	41512860	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:41512860A>G	ENST00000324071.4	+	4	542	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	179					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGCCAACATCATCTGCTCCAT	0.498000													3	42					0	0	0.115264	0	0
TCF20	6942	broad.mit.edu	37	22	42609619	42609619	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr22:42609619G>T	ENST00000359486.3	-	1	1829	c.1693C>A	c.(1693-1695)Cag>Aag	p.Q565K	TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTTCATTCTGAGCACCTTGT	0.582000													4	66					0.150653	0.161043	0.150653	1	0
FAT3	120114	broad.mit.edu	37	11	92086069	92086069	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr11:92086069C>T	ENST00000298047.6	+	1	808	c.791C>T	c.(790-792)cCa>cTa	p.P264L	FAT3_ENST00000541502.1_Missense_Mutation_p.P264L|FAT3_ENST00000525166.1_Missense_Mutation_p.P114L|FAT3_ENST00000409404.2_Missense_Mutation_p.P264L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	264	Cadherin 2.|Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACATGCCCCAACAATCCAT	0.443000										TCGA Ovarian(4;0.039)			18	109					0	0	0.592651	0	0
CARD10	29775	broad.mit.edu	37	22	37888774	37888774	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr22:37888774G>A	ENST00000403299.1	-	18	2728	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	CARD10_ENST00000406271.3_Missense_Mutation_p.R552W|CARD10_ENST00000251973.5_Missense_Mutation_p.R838W			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	838					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	p.R838W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGTAGCGGCCGCACCAAACTG	0.657000													3	49					0	0	0.115264	0	0
AHDC1	27245	broad.mit.edu	37	1	27874814	27874814	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:27874814C>T	ENST00000374011.2	-	6	4781	c.3813G>A	c.(3811-3813)ccG>ccA	p.P1271P	AHDC1_ENST00000247087.5_Silent_p.P1271P|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1271							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCCACCTCGCGGCTGCCGGG	0.677000													29	105					0	0	0.769981	0	0
TBX20	57057	broad.mit.edu	37	7	35242247	35242247	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:35242247G>A	ENST00000408931.3	-	8	1665	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	380						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GATGGGGTGAGGAATGGGTGT	0.562000													7	66					0	0	0.307466	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361687	105361687	+	Silent	SNP	C	C	A	rs146300680		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:105361687C>A	ENST00000369774.4	-	15	3564	c.3288G>T	c.(3286-3288)gtG>gtT	p.V1096V	SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.V963V			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1096	SH3 5.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCTCCATGGACACCCCCTCCT	0.537000													22	105					1.96895e-08	2.3033e-08	0.639603	1	0
SULF2	55959	broad.mit.edu	37	20	46301041	46301041	+	Missense_Mutation	SNP	C	C	T	rs140635355		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr20:46301041C>T	ENST00000359930.4	-	11	2328	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SULF2_ENST00000467815.1_Missense_Mutation_p.V493M|SULF2_ENST00000361612.4_Missense_Mutation_p.V493M|SULF2_ENST00000484875.1_Missense_Mutation_p.V493M	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	493					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TACTTGGGCACGAGGTTGGAG	0.627000													28	80					0	0	0.769981	0	0
PRSS58	136541	broad.mit.edu	37	7	141952337	141952337	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:141952337A>T	ENST00000552471.1	-	4	850	c.531T>A	c.(529-531)aaT>aaA	p.N177K	PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	177	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CACACAGCATATTTTCCGTGA	0.448000													7	148					0	0	0.307466	0	0
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr3:195515435C>T	ENST00000463781.3	-	2	3475	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1008	Repeat.|Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A1006T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582000													3	8					0	0	0.115264	0	0
PCDH9	5101	broad.mit.edu	37	13	67801779	67801779	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:67801779G>A	ENST00000544246.1	-	2	1485	c.794C>T	c.(793-795)gCt>gTt	p.A265V	PCDH9_ENST00000377861.3_Missense_Mutation_p.A265V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A265V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A265V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A265V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	265	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTACGGGAGCATTCTCTGG	0.483000													13	81					0	0	0.500413	0	0
GAST	2520	broad.mit.edu	37	17	39871695	39871695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:39871695C>T	ENST00000329402.3	+	2	74	c.7C>T	c.(7-9)Cga>Tga	p.R3*	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	3			R -> P (in dbSNP:rs34309618).			extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGAGATGCAGCGACTGTGTGT	0.592000													42	342					0	0	0.870114	0	0
NT5C2	22978	broad.mit.edu	37	10	104849590	104849590	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:104849590G>A	ENST00000343289.5	-	18	1612	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	NT5C2_ENST00000423468.2_Missense_Mutation_p.R480C|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000404739.3_Missense_Mutation_p.R509C	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	509					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACTGATGTGCGGTTCCGGGTG	0.507000													5	73					0	0	0.248553	0	0
MAP2K4	6416	broad.mit.edu	37	17	12032526	12032526	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:12032526T>A	ENST00000415385.3	+	10	1048	c.995T>A	c.(994-996)gTg>gAg	p.V332E	MAP2K4_ENST00000353533.5_Missense_Mutation_p.V321E			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	321	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ACACAAGTCGTGAAAGGAGAT	0.413000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								14	62					0	0	0.457914	0	0
TRIM31	11074	broad.mit.edu	37	6	30071498	30071498	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr6:30071498A>C	ENST00000376734.3	-	9	1218	c.1093T>G	c.(1093-1095)Tcg>Gcg	p.S365A	TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	365						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CCAGCAGACGAGGCCCGAAAC	0.527000													14	139					0	0	0.539581	0	0
CSDE1	7812	broad.mit.edu	37	1	115262240	115262240	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:115262240G>A	ENST00000438362.2	-	18	2692	c.2314C>T	c.(2314-2316)Cgc>Tgc	p.R772C	CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C|CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000358528.4_Missense_Mutation_p.R726C	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	726					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCCAGTGCGCTGATTAAGA	0.453000													7	101					0	0	0.307466	0	0
PCDHA6	0	broad.mit.edu	37	5	140208013	140208013	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr5:140208013C>A	ENST00000529310.1	+	1	451	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGACAGGCCGCTGCAGGT	0.562000													22	218					1.17739e-12	1.42646e-12	0.693898	1	0
ELP2	55250	broad.mit.edu	37	18	33739979	33739979	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr18:33739979G>T	ENST00000358232.6	+	16	1751		c.e16+1		ELP2_ENST00000351393.6_Splice_Site|ELP2_ENST00000542824.1_Splice_Site|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000350494.6_Splice_Site|ELP2_ENST00000423854.2_Splice_Site|ELP2_ENST00000442325.2_Splice_Site	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2						regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTCAAAAACTGTAAGTTAAAC	0.383000													5	55					0.307466	0.322839	0.307466	1	0
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:21806573A>G	ENST00000318220.6	+	14	2118	c.1070A>G	c.(1069-1071)gAg>gGg	p.E357G	NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 2.					cytoplasm		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463000													3	43					0	0	0.115264	0	0
FREM2	341640	broad.mit.edu	37	13	39265996	39265996	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr13:39265996C>A	ENST00000280481.7	+	1	4731	c.4515C>A	c.(4513-4515)gaC>gaA	p.D1505E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1505					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAAAATGGACAGTTTTGAGT	0.468000													4	111					0.014758	0.0163115	0.184627	1	0
SLC22A4	6583	broad.mit.edu	37	5	131630515	131630515	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr5:131630515T>A	ENST00000200652.3	+	1	380	c.206T>A	c.(205-207)cTg>cAg	p.L69Q	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	69					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	AGTGTCCCGCTGCGGCTGCGG	0.726000													8	15					0	0	0.361761	0	0
NT5C2	22978	broad.mit.edu	37	10	104849590	104849590	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr10:104849590G>A	ENST00000343289.5	-	18	1612	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	NT5C2_ENST00000404739.3_Missense_Mutation_p.R509C|NT5C2_ENST00000423468.2_Missense_Mutation_p.R480C|NT5C2_ENST00000369857.4_5'UTR	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	509					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACTGATGTGCGGTTCCGGGTG	0.507000													5	73					0	0	0.248553	0	0
FAF1	11124	broad.mit.edu	37	1	51253785	51253785	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:51253785C>T	ENST00000396153.2	-	4	705	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	FAF1_ENST00000371778.4_Missense_Mutation_p.R85Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	85					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(3)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CATTACAGGTCGAAACGCTGA	0.458000													15	46					0	0	0.539581	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037257	129037257	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr5:129037257C>A	ENST00000274487.4	+	20	3258	c.3113C>A	c.(3112-3114)aCc>aAc	p.T1038N	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1038					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GACTGCATGACCGTGTGGGAG	0.567000													14	85					2.4624e-09	2.927e-09	0.575678	1	0
BCL6	604	broad.mit.edu	37	3	187447232	187447232	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr3:187447232C>T	ENST00000406870.2	-	5	1327	c.961G>A	c.(961-963)Gca>Aca	p.A321T	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	321					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTCAGGGGTGCATTGGGGGGC	0.572000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								8	131					0	0	0.307466	0	0
EIF5	1983	broad.mit.edu	37	14	103807368	103807368	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr14:103807368C>T	ENST00000216554.3	+	12	1951	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	EIF5_ENST00000558506.1_Silent_p.D425D|EIF5_ENST00000392715.2_Silent_p.D425D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	425	Asp-rich (acidic).				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	p.D425fs*>5(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGGATGACGACATCGATATTG	0.398000													6	80					0	0	0.278610	0	0
DHTKD1	55526	broad.mit.edu	37	10	12148384	12148384	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr10:12148384T>G	ENST00000263035.4	+	11	2098	c.2036T>G	c.(2035-2037)tTc>tGc	p.F679C		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	679					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTGACACATTCATCTCTGGA	0.537000													13	196					0	0	0.520397	0	0
FAT3	120114	broad.mit.edu	37	11	92086069	92086069	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr11:92086069C>T	ENST00000298047.6	+	1	808	c.791C>T	c.(790-792)cCa>cTa	p.P264L	FAT3_ENST00000409404.2_Missense_Mutation_p.P264L|FAT3_ENST00000541502.1_Missense_Mutation_p.P264L|FAT3_ENST00000525166.1_Missense_Mutation_p.P114L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	264	Cadherin 2.|Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACATGCCCCAACAATCCAT	0.443000										TCGA Ovarian(4;0.039)			18	109					0	0	0.592651	0	0
MAP3K5	4217	broad.mit.edu	37	6	136990479	136990479	+	Silent	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr6:136990479C>A	ENST00000359015.4	-	8	1668	c.1308G>T	c.(1306-1308)gcG>gcT	p.A436A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	436					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGAGGAGGACCGCATAATTAA	0.378000													28	109					2.47511e-08	2.83512e-08	0.729181	1	0
CTC1	80169	broad.mit.edu	37	17	8138502	8138502	+	Silent	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr17:8138502A>C	ENST00000315684.8	-	8	1315	c.1308T>G	c.(1306-1308)cgT>cgG	p.R436R		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	436					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAGGCTTCTGACGAGAGAAGC	0.622000													14	91					0	0	0.539581	0	0
TMEM192	201931	broad.mit.edu	37	4	166009709	166009709	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr4:166009709G>A	ENST00000306480.5	-	4	630	c.485C>T	c.(484-486)cCa>cTa	p.P162L	TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	162						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		GCCAGGCTCTGGGAAGGAGTG	0.453000													4	27					0	0	0.217242	0	0
AMZ2P1	0	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													3	99					0	0	0.115264	0	0
ISLR	3671	broad.mit.edu	37	15	74467874	74467874	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr15:74467874G>A	ENST00000249842.3	+	2	1032	c.675G>A	c.(673-675)ccG>ccA	p.P225P	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P225P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	225	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCGCCTGCCGCCACTGCCAT	0.657000													7	56					0	0	0.307466	0	0
TMEM116	89894	broad.mit.edu	37	12	112369540	112369540	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr12:112369540C>T	ENST00000354825.3	-	13	1278	c.623G>A	c.(622-624)cGt>cAt	p.R208H	TMEM116_ENST00000552374.2_Missense_Mutation_p.R300H|TMEM116_ENST00000550831.3_Missense_Mutation_p.R208H|TMEM116_ENST00000549537.2_Missense_Mutation_p.R114H|TMEM116_ENST00000355445.3_Missense_Mutation_p.R265H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R208H			Q8NCL8	TM116_HUMAN	transmembrane protein 116	208						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						ATCTGCATCACGCCGAGCCTC	0.493000													5	100					0	0	0.248553	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456579	30456579	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr16:30456579T>A	ENST00000478753.2	-	1	923	c.470A>T	c.(469-471)aAc>aTc	p.N157I	SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I|SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	157					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACTCAGCACGTTGGCACAAGC	0.542000													16	92					0	0	0.539581	0	0
TCOF1	6949	broad.mit.edu	37	5	149755039	149755039	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr5:149755039G>A	ENST00000451292.1	+	11	1734	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	TCOF1_ENST00000445265.2_Silent_p.E465E|TCOF1_ENST00000323668.7_Silent_p.E465E|TCOF1_ENST00000377797.3_Silent_p.E542E|TCOF1_ENST00000513346.1_Silent_p.E542E|TCOF1_ENST00000439160.2_Silent_p.E542E|TCOF1_ENST00000394269.3_Silent_p.E542E|TCOF1_ENST00000504761.2_Silent_p.E542E			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	542					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGTGGGAGGAGGACTCAG	0.662000													9	45					0	0	0.361761	0	0
KCNH5	27133	broad.mit.edu	37	14	63453899	63453899	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr14:63453899G>A	ENST00000322893.7	-	5	708	c.440C>T	c.(439-441)aCg>aTg	p.T147M	KCNH5_ENST00000420622.2_Missense_Mutation_p.T147M|KCNH5_ENST00000394968.1_Missense_Mutation_p.T89M|KCNH5_ENST00000394964.2_Missense_Mutation_p.T89M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGCAAATTTCGTCCAACCTTA	0.383000													12	40					0	0	0.435327	0	0
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572000													3	84					0	0	0.184627	0	0
TTC37	9652	broad.mit.edu	37	5	94848278	94848278	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr5:94848278C>T	ENST00000358746.2	-	28	3121	c.2823G>A	c.(2821-2823)ttG>ttA	p.L941L	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	941							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTTATCTTGCAATGTTGTGC	0.358000													12	84					0	0	0.479597	0	0
CTC1	80169	broad.mit.edu	37	17	8138518	8138518	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr17:8138518A>C	ENST00000315684.8	-	8	1299	c.1292T>G	c.(1291-1293)cTt>cGt	p.L431R		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	431					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GAAGCTTTGAAGCAGAACGGC	0.617000													18	93					0	0	0.592651	0	0
FAM187B	148109	broad.mit.edu	37	19	35718888	35718888	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr19:35718888G>A	ENST00000324675.3	-	1	744	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	232						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AGGGACAGTCGAGCCACACAA	0.502000													6	21					0	0	0.248553	0	0
SYT1	6857	broad.mit.edu	37	12	79611355	79611355	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr12:79611355C>T	ENST00000261205.4	+	4	713	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SYT1_ENST00000552744.1_Missense_Mutation_p.A19V|SYT1_ENST00000393240.3_Missense_Mutation_p.A19V|SYT1_ENST00000457153.2_Missense_Mutation_p.A19V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	19					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCACTGTCGCGACTGTTCTG	0.527000													11	62					0	0	0.387290	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885314	180885314	+	Silent	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:180885314A>G	ENST00000367588.4	+	2	130	c.75A>G	c.(73-75)acA>acG	p.T25T		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	25										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGTGGAACAGCCAGCCCCG	0.617000													11	52					0	0	0.435327	0	0
ABCA13	154664	broad.mit.edu	37	7	48390275	48390275	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr7:48390275G>A	ENST00000435803.1	+	30	10264	c.10240G>A	c.(10240-10242)Gct>Act	p.A3414T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3414					transport	integral to membrane	ATP binding|ATPase activity	p.A3359T(1)|p.A3414T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCATGCAGGCGCTGGACGCTT	0.522000													19	100					0	0	0.592651	0	0
WDR90	197335	broad.mit.edu	37	16	703785	703785	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr16:703785G>A	ENST00000549091.1	+	13	1511	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	WDR90_ENST00000293879.4_Silent_p.K473K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	473										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGTTGGCAAGGACCACCACG	0.642000													3	77					0	0	0.115264	0	0
CELSR2	1952	broad.mit.edu	37	1	109803759	109803759	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:109803759A>G	ENST00000271332.3	+	3	4115	c.4054A>G	c.(4054-4056)Aag>Gag	p.K1352E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1352	EGF-like 3; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGCGGTTTCAAGTGCGATTG	0.627000													34	130					0	0	0.819951	0	0
MT-RNR2	0	broad.mit.edu	37	MT	2054	2054	+	RNA	SNP	T	T	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chrM:2054T>C	ENST00000387347.2	+	0	384					NR_039705.1																						TCAACTTTAAATTTGCCCACA	0.398000													25	28					0	0	0.729181	0	0
SNAI1	6615	broad.mit.edu	37	20	48600754	48600754	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr20:48600754G>T	ENST00000244050.2	+	2	537	c.476G>T	c.(475-477)tGc>tTc	p.C159F		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	159					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCAAATACTGCAACAAGGAA	0.602000													3	34					0.115264	0.125201	0.115264	1	0
TXNL1	9352	broad.mit.edu	37	18	54278306	54278306	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr18:54278306C>T	ENST00000217515.6	-	7	962	c.758G>A	c.(757-759)gGt>gAt	p.G253D	TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D|TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	253	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TTCCTCTTCACCTTGATTCGA	0.294000													9	41					0	0	0.361761	0	0
PRKCG	5582	broad.mit.edu	37	19	54395835	54395835	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr19:54395835C>T	ENST00000263431.3	+	7	1041	c.759C>T	c.(757-759)aaC>aaT	p.N253N	PRKCG_ENST00000542049.1_Silent_p.N140N|PRKCG_ENST00000540413.1_Silent_p.N253N|PRKCG_ENST00000536044.1_Silent_p.N253N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	253	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCTCCCGCAACGACTTCATGG	0.672000													8	37					0	0	0.361761	0	0
CCM2L	140706	broad.mit.edu	37	20	30617620	30617620	+	Missense_Mutation	SNP	C	C	T	rs78544950	byFrequency	TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr20:30617620C>T	ENST00000300415.8	+	9	1394	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	CCM2L_ENST00000262659.8_3'UTR|RP1-310O13.7_ENST00000449519.1_RNA					cerebral cavernous malformation 2-like																		CTACGGAGACCGGCGCAAGTT	0.647000													26	74					0	0	0.740014	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512860	41512860	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr19:41512860A>G	ENST00000324071.4	+	4	542	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	179					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGCCAACATCATCTGCTCCAT	0.498000													3	42					0	0	0.115264	0	0
TCF20	6942	broad.mit.edu	37	22	42609619	42609619	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr22:42609619G>T	ENST00000359486.3	-	1	1829	c.1693C>A	c.(1693-1695)Cag>Aag	p.Q565K	TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTTCATTCTGAGCACCTTGT	0.582000													4	66					0.150653	0.160867	0.150653	1	0
PCDHB4	0	broad.mit.edu	37	5	140501672	140501672	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr5:140501672G>A	ENST00000194152.1	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		31					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCTATTCGTTATTCTGTG	0.527000													5	73					0	0	0.217242	0	0
CARD10	29775	broad.mit.edu	37	22	37888774	37888774	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr22:37888774G>A	ENST00000403299.1	-	18	2728	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	CARD10_ENST00000406271.3_Missense_Mutation_p.R552W|CARD10_ENST00000251973.5_Missense_Mutation_p.R838W			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	838					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	p.R838W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGTAGCGGCCGCACCAAACTG	0.657000													3	49					0	0	0.115264	0	0
AHDC1	27245	broad.mit.edu	37	1	27874814	27874814	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:27874814C>T	ENST00000374011.2	-	6	4781	c.3813G>A	c.(3811-3813)ccG>ccA	p.P1271P	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.P1271P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1271							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCCACCTCGCGGCTGCCGGG	0.677000													29	105					0	0	0.769981	0	0
TBX20	57057	broad.mit.edu	37	7	35242247	35242247	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr7:35242247G>A	ENST00000408931.3	-	8	1665	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	380						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GATGGGGTGAGGAATGGGTGT	0.562000													7	66					0	0	0.307466	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13367	13367	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chrM:13367G>A	ENST00000361567.2	+	1	1031	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	344					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	TATGTGCTCCGGGTCCATCAT	0.443000													29	28					0	0	0.769981	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361687	105361687	+	Silent	SNP	C	C	A	rs146300680		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr10:105361687C>A	ENST00000369774.4	-	15	3564	c.3288G>T	c.(3286-3288)gtG>gtT	p.V1096V	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000540321.1_Silent_p.V963V|SH3PXD2A_ENST00000355946.2_Silent_p.V1068V			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1096	SH3 5.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCTCCATGGACACCCCCTCCT	0.537000													22	105					1.96895e-08	2.29711e-08	0.639603	1	0
SULF2	55959	broad.mit.edu	37	20	46301041	46301041	+	Missense_Mutation	SNP	C	C	T	rs140635355		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr20:46301041C>T	ENST00000359930.4	-	11	2328	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SULF2_ENST00000467815.1_Missense_Mutation_p.V493M|SULF2_ENST00000361612.4_Missense_Mutation_p.V493M|SULF2_ENST00000484875.1_Missense_Mutation_p.V493M	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	493					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TACTTGGGCACGAGGTTGGAG	0.627000													28	80					0	0	0.769981	0	0
MT-RNR2	0	broad.mit.edu	37	MT	2302	2302	+	RNA	SNP	T	T	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chrM:2302T>C	ENST00000387347.2	+	0	632					NR_039705.1																						AAGAACTAATGTTAGTATAAG	0.393000													12	41					0	0	0.457914	0	0
PRSS58	136541	broad.mit.edu	37	7	141952337	141952337	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr7:141952337A>T	ENST00000552471.1	-	4	850	c.531T>A	c.(529-531)aaT>aaA	p.N177K	PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	177	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CACACAGCATATTTTCCGTGA	0.448000													7	148					0	0	0.307466	0	0
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr9:70993145A>G	ENST00000396396.1	+	2	521	c.292A>G	c.(292-294)Atc>Gtc	p.I98V	PGM5_ENST00000396392.1_Missense_Mutation_p.I98V|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.I98V(3)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAGAATGGCATCTTGTCGAC	0.478000													4	64					0	0	0.217242	0	0
PCDH9	5101	broad.mit.edu	37	13	67801779	67801779	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr13:67801779G>A	ENST00000544246.1	-	2	1485	c.794C>T	c.(793-795)gCt>gTt	p.A265V	PCDH9_ENST00000456367.1_Missense_Mutation_p.A265V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A265V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A265V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A265V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	265	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTACGGGAGCATTCTCTGG	0.483000													13	81					0	0	0.500413	0	0
GAST	2520	broad.mit.edu	37	17	39871695	39871695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr17:39871695C>T	ENST00000329402.3	+	2	74	c.7C>T	c.(7-9)Cga>Tga	p.R3*	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	3			R -> P (in dbSNP:rs34309618).			extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGAGATGCAGCGACTGTGTGT	0.592000													42	342					0	0	0.870114	0	0
WASH3P	0	broad.mit.edu	37	15	102516473	102516473	+	RNA	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr15:102516473G>A	ENST00000557932.1	+	0	1421																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ATCCTAGGGGGCTCCATGACA	0.642000													4	63					0	0	0.479597	0	0
MAP2K4	6416	broad.mit.edu	37	17	12032526	12032526	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr17:12032526T>A	ENST00000415385.3	+	10	1048	c.995T>A	c.(994-996)gTg>gAg	p.V332E	MAP2K4_ENST00000353533.5_Missense_Mutation_p.V321E			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	321	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ACACAAGTCGTGAAAGGAGAT	0.413000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								14	62					0	0	0.457914	0	0
TRIM31	11074	broad.mit.edu	37	6	30071498	30071498	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr6:30071498A>C	ENST00000376734.3	-	9	1218	c.1093T>G	c.(1093-1095)Tcg>Gcg	p.S365A	TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	365						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CCAGCAGACGAGGCCCGAAAC	0.527000													14	139					0	0	0.539581	0	0
CSDE1	7812	broad.mit.edu	37	1	115262240	115262240	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:115262240G>A	ENST00000438362.2	-	18	2692	c.2314C>T	c.(2314-2316)Cgc>Tgc	p.R772C	CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C|CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000358528.4_Missense_Mutation_p.R726C	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	726					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCCAGTGCGCTGATTAAGA	0.453000													7	101					0	0	0.307466	0	0
GRIFIN	402635	broad.mit.edu	37	7	2516117	2516118	+	RNA	DEL	GA	GA	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:2516117_2516118delGA	ENST00000417742.1	-	0	170									galectin-related inter-fiber protein														Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;3.23e-14)		agcgccgggggagggctggggg	0.787													2	4	---	---	---	---					
KCNMA1	3778	broad.mit.edu	37	10	78729786	78729786	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:78729786delT	ENST00000286627.5	-	19	3084	c.2132delA	c.(2131-2133)agfs	p.K711fs	KCNMA1_ENST00000286628.8_Frame_Shift_Del_p.K769fs|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404857.1_Frame_Shift_Del_p.K711fs|KCNMA1_ENST00000354353.5_Frame_Shift_Del_p.K772fs|KCNMA1_ENST00000372443.1_Frame_Shift_Del_p.K711fs|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Frame_Shift_Del_p.K773fs|KCNMA1_ENST00000404771.3_Frame_Shift_Del_p.K769fs|KCNMA1_ENST00000372440.1_Frame_Shift_Del_p.K711fs	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	706					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.K711fs*17(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ATTCCGTTGCTTTTTTTTTGG	0.502													7	86	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108121643	108121643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr11:108121643delG	ENST00000278616.4	+	10	1836	c.1451delG	c.(1450-1452)tgfs	p.W484fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.W484fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	484					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTAAAACTCTGGAATAAAATT	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			15	54	---	---	---	---					
ZIC5	85416	broad.mit.edu	37	13	100622668	100622670	+	In_Frame_Del	DEL	GGC	GGC	-	rs71114653		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:100622668_100622670delGGC	ENST00000267294.4	-	1	1493_1495	c.1260_1262delGCC	c.(1258-1263)cca>cc	p.PP422del		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	422	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cgggggcggtggcggcggcggcg	0.724													3	3	---	---	---	---					
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccc>cc	p.PCCAPS45del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	45	30 X 5 AA repeats of C-C-X(3).					keratin filament		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698													7	13	---	---	---	---					
FNDC7	163479	broad.mit.edu	37	1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccfs	p.P708fs	FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	709	Fibronectin type-III 8.					extracellular region		p.I478fs*4(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTCTGTCCAAAAAAAATAT	0.363													7	89	---	---	---	---					
ZFP36L2	678	broad.mit.edu	37	2	43451740	43451742	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr2:43451740_43451742delCTG	ENST00000282388.3	-	2	1494_1496	c.1201_1203delCAG	c.(1201-1203)del	p.Q401del	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	401	Poly-Gln.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				gcgccaggccctgctgctgctgc	0.764													3	6	---	---	---	---					
UBE2E1-AS1	0	broad.mit.edu	37	3	23847374	23847376	+	RNA	DEL	GAG	GAG	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr3:23847374_23847376delGAG	ENST00000426702.1	-	0	87																											gggtgagggcgaggaggaggagg	0.690													4	5	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72667747	72667747	+	RNA	DEL	T	T	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr7:72667747delT	ENST00000425256.1	-	0	633					NR_002164.1																						tttttttttcttttttttttt	0.388													3	4	---	---	---	---					
PABPC1	26986	broad.mit.edu	37	8	101730036	101730037	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr8:101730036_101730037insC	ENST00000318607.5	-	3	1595_1596	c.467_468insG	c.(466-468)gaafs	p.E156fs	PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.E124fs|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.E111fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	156	RRM 2.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTCATTTTTTCAATAGCTCT	0.337													13	87	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108121643	108121643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr11:108121643delG	ENST00000278616.4	+	10	1836	c.1451delG	c.(1450-1452)tgfs	p.W484fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.W484fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	484					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTAAAACTCTGGAATAAAATT	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			15	54	---	---	---	---					
ZIC5	85416	broad.mit.edu	37	13	100622668	100622670	+	In_Frame_Del	DEL	GGC	GGC	-	rs71114653		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr13:100622668_100622670delGGC	ENST00000267294.4	-	1	1493_1495	c.1260_1262delGCC	c.(1258-1263)cca>cc	p.PP422del		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	422	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cgggggcggtggcggcggcggcg	0.724													3	3	---	---	---	---					
CTB-58E17.3	0	broad.mit.edu	37	17	36861675	36861675	+	RNA	DEL	G	G	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr17:36861675delG	ENST00000583409.1	-	0	208																											AGAGCACGGCGGGGGGGGCGG	0.736													2	4	---	---	---	---					
TPTEP1	0	broad.mit.edu	37	22	17119421	17119422	+	RNA	INS	-	-	ATTTATTT			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr22:17119421_17119422insATTTATTT	ENST00000426585.1	+	0	280																											TTTATCTTTGCatttatttatt	0.351													3	4	---	---	---	---