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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CHRDL1	91851	broad.mit.edu	37	X	110002887	110002887	+	Splice_Site	SNP	A	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chrX:110002887A>T	uc004eou.4	-	4	650	c.301_splice	c.e4+1	p.E101_splice	CHRDL1_uc004eov.3_Splice_Site_p.E95_splice|CHRDL1_uc004eow.3_Splice_Site_p.D101_splice|CHRDL1_uc010nps.3_Splice_Site_p.D101_splice|CHRDL1_uc011mss.2_Splice_Site_p.G101_splice	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	94					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAATTGCTTTACCTGGGCAGC	0.473000														18			83		0	0	0.048971	0	0
PRPF39	55015	broad.mit.edu	37	14	45583422	45583422	+	Silent	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:45583422G>A	uc001wvz.4	+	11	1964	c.1794G>A	c.(1792-1794)ctG>ctA	p.L598L	PRPF39_uc001wvy.4_Silent_p.L477L|PRPF39_uc010and.3_Silent_p.L388L|PRPF39_uc001wwa.1_Silent_p.L202L	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.	598					RNA splicing|mRNA processing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						AAACACTCCTGAAAGAACAGG	0.318000														34			21		0	0	0.069288	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652378	234652378	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:234652378C>T	uc002vuz.3	-	0	284	c.185G>A	c.(184-186)cGc>cAc	p.R62H	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	62	J.				protein folding		heat shock protein binding|unfolded protein binding										ATAGATATCGCGTTTCTTGGC	0.622000														196			112		0	0	0.048971	0	0
KCNA4	3739	broad.mit.edu	37	11	30033223	30033223	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:30033223C>T	uc021qfi.1	-	0	1003	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	KCNA4_uc001msk.3_Missense_Mutation_p.D335N	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	335						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.D335N(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGATCCCTGTCGTCCCTAAAC	0.517000														50			40		0	0	0.092188	0	0
RP1	6101	broad.mit.edu	37	8	55538303	55538303	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:55538303G>A	uc003xsd.1	+	3	2009	c.1861G>A	c.(1861-1863)Gga>Aga	p.G621R	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	621					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.S620Y(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAATAACTCTGGAACTGACAA	0.373000														33			24		0	0	0.083992	0	0
LRFN5	145581	broad.mit.edu	37	14	42356700	42356700	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:42356700G>A	uc001wvm.3	+	2	2070	c.872G>A	c.(871-873)cGt>cAt	p.R291H	LRFN5_uc010ana.3_Missense_Mutation_p.R291H	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	291	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATTACTCGTCATACACAT	0.488000										HNSCC(30;0.082)				64			49		0	0	0.045515	0	0
EP400	57634	broad.mit.edu	37	12	132466657	132466657	+	Silent	SNP	G	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr12:132466657G>T	uc001ujn.3	+	4	1715	c.1563G>T	c.(1561-1563)ccG>ccT	p.P521P	EP400_uc021rgq.1_Silent_p.P520P|EP400_uc001ujm.3_Silent_p.P521P|EP400_uc001ujj.2_Silent_p.P484P|EP400_uc001ujk.3_Silent_p.P557P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	557					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCCCACGCCGCAGGCCGCGC	0.592000														176			100		6.09681e-45	7.00377e-45	0.048971	1	0
IL4I1	259307	broad.mit.edu	37	19	50393077	50393077	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:50393077C>T	uc002pqv.2	-	10	2410	c.1581G>A	c.(1579-1581)gaG>gaA	p.E527E	IL4I1_uc002pqt.1_Silent_p.E518E|IL4I1_uc021uxy.1_Silent_p.E540E|IL4I1_uc002pqu.2_Silent_p.E540E|IL4I1_uc010eno.2_Silent_p.E526E	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	518						lysosome	L-amino-acid oxidase activity	p.E540E(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		ATGCGTGCCCCTCGGGGCTGG	0.687000														49			19		0	0	0.055883	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382758	80382758	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:80382758C>T	uc003kha.2	+	8	1426	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.T287M	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	459					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCAGCCAAACGTTCATCCGC	0.532000														62			37		0	0	0.064281	0	0
COLEC12	81035	broad.mit.edu	37	18	346546	346546	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:346546G>A	uc002kkm.3	-	4	1291	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	359					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTGGTCAGCGTCCGCAGGTG	0.473000														42			35		0	0	0.054565	0	0
OR4X1	390113	broad.mit.edu	37	11	48286042	48286042	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:48286042C>T	uc010rht.2	+	0	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCAGTTTCTTCGTGCTGATGG	0.562000														39			30		0	0	0.045705	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449685	61449685	+	Missense_Mutation	SNP	A	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:61449685A>T	uc002ljl.3	+	1	175	c.79A>T	c.(79-81)Aat>Tat	p.N27Y	SERPINB7_uc002ljm.3_Missense_Mutation_p.N27Y|SERPINB7_uc010xet.2_Missense_Mutation_p.N27Y|SERPINB7_uc010dqg.3_Missense_Mutation_p.N27Y	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	27					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGGAAATGGAAATGTGTTCTT	0.507000														76			34		0	0	0.064281	0	0
PSKH2	85481	broad.mit.edu	37	8	87081703	87081703	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:87081703C>T	uc011lfy.2	-	0	149	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	50							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GGCTCGGAAGCGAGCCACCTG	0.672000														19			11		0	0	0.093190	0	0
FSCB	84075	broad.mit.edu	37	14	44975176	44975176	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:44975176C>T	uc001wvn.3	-	0	1324	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	339	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAGACTCTTCAGCTGATGGA	0.517000														77			41		0	0	0.092188	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														55			4		0	0	0.009096	0	0
KEL	3792	broad.mit.edu	37	7	142655048	142655048	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:142655048G>A	uc003wcb.3	-	5	748	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	180			R -> P (in KEL24 antigen).		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAGAGATGCGCCAGCCTCCA	0.517000														44			17		0	0	0.033300	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269789	150269789	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:150269789C>T	uc003whl.3	+	2	713	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	GIMAP4_uc011kuu.2_Missense_Mutation_p.R72C|GIMAP4_uc011kuv.2_Missense_Mutation_p.R225C	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	211							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGATCCAGCGCGTGGTGAG	0.542000														113			53		0	0	0.048971	0	0
RGNEF	64283	broad.mit.edu	37	5	73048961	73048961	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:73048961G>A	uc010izf.3	+	3	585	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	RGNEF_uc011csq.2_Missense_Mutation_p.V137M|RGNEF_uc003kcy.1_Missense_Mutation_p.V137M|RGNEF_uc021yam.1_Missense_Mutation_p.V137M	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	137					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TGAGGAGCTCGTGCTGGCTCT	0.567000														17			13		0	0	0.105934	0	0
SAP130	79595	broad.mit.edu	37	2	128747195	128747195	+	Missense_Mutation	SNP	C	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:128747195C>A	uc010fmd.2	-	12	1933	c.1801G>T	c.(1801-1803)Ggg>Tgg	p.G601W	SAP130_uc002tpn.2_Missense_Mutation_p.G362W|SAP130_uc002tpp.2_Missense_Mutation_p.G601W|SAP130_uc002tpq.1_Missense_Mutation_p.G574W	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	601					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGCTGAAGCCCTTGTGTGTTG	0.512000														133			4		0.000602214	0.000664348	0.014758	1	0
LMTK3	114783	broad.mit.edu	37	19	49000820	49000820	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:49000820C>T	uc002pjk.3	-	11	3593	c.3593G>A	c.(3592-3594)aGg>aAg	p.R1198K		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CACCTCCGGCCTGGCTCTCGG	0.761000														19			5		0	0	0.021553	0	0
DPY19L1	23333	broad.mit.edu	37	7	34978935	34978935	+	Silent	SNP	T	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:34978935T>A	uc003tem.4	-	19	1843	c.1698A>T	c.(1696-1698)gcA>gcT	p.A566A	DPY19L1_uc003tel.1_5'Flank	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA.	566						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TGGGCCGAAGTGCAGAGAGCT	0.502000														90			36		0	0	0.086207	0	0
TTN	7273	broad.mit.edu	37	2	179498031	179498031	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:179498031C>T	uc021vsy.1	-	181	35490	c.35265G>A	c.(35263-35265)aaG>aaA	p.K11755K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5450K|TTN_uc021vta.1_Silent_p.K5383K|TTN_uc021vtb.1_Silent_p.K5258K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12682	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTACAGAGGCTTTTCCACTT	0.403000														100			68		0	0	0.048971	0	0
SDC1	6382	broad.mit.edu	37	2	20403920	20403920	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:20403920G>A	uc002rdo.1	-	2	580	c.281C>T	c.(280-282)cCg>cTg	p.P94L	SDC1_uc002rdp.1_Missense_Mutation_p.P94L|SDC1_uc010exv.3_Missense_Mutation_p.P94L|SDC1_uc010exw.1_Non-coding_Transcript	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	94					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTCTCCAGCCGGCAGGGTGGA	0.687000														95			45		0	0	0.039052	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171691	68171691	+	Missense_Mutation	SNP	A	G	G	rs150326473		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:68171691A>G	uc010dfg.3	+	1	912	c.511A>G	c.(511-513)Atc>Gtc	p.I171V	KCNJ2_uc002jir.3_Missense_Mutation_p.I171V|KCNJ2_uc021ucj.1_Missense_Mutation_p.I171V	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	171					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGGCTGCATCATCGATGCTTT	0.483000														102			71		0	0	0.048971	0	0
WNT11	7481	broad.mit.edu	37	11	75898143	75898143	+	Missense_Mutation	SNP	C	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:75898143C>A	uc001oxe.3	-	4	1154	c.1031G>T	c.(1030-1032)tGt>tTt	p.C344F		NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	344					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding	p.C344Y(4)|p.R343R(1)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GGTACGCTCACACCTGCGGCA	0.642000														38			33		1.62565e-12	1.83711e-12	0.050027	1	0
RNF112	7732	broad.mit.edu	37	17	19316707	19316707	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:19316707G>A	uc010vyw.2	+	4	934	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	RNF112_uc010vyu.2_3'UTR|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.G118R	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	235							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTTCTTGCTGGGGAAAGAAGG	0.627000														27			21		0	0	0.062417	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188296	32188296	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:32188296C>T	uc003obb.3	-	5	1184	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.G349S	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	349	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGCTTGTGCCGCCCCAGCCA	0.617000														87			44		0	0	0.042209	0	0
ZNF331	55422	broad.mit.edu	37	19	54074900	54074900	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:54074900G>A	uc002qbx.1	+	5	1486	c.52G>A	c.(52-54)Gag>Aag	p.E18K	ZNF331_uc002qby.1_Missense_Mutation_p.E18K|ZNF331_uc002qbz.1_Missense_Mutation_p.E18K|ZNF331_uc010eqr.1_Missense_Mutation_p.E18K|ZNF331_uc002qca.1_Missense_Mutation_p.E18K|ZNF331_uc021uzg.1_Missense_Mutation_p.E18K|ZNF331_uc021uzh.1_Missense_Mutation_p.E18K|ZNF331_uc002qcb.1_Missense_Mutation_p.E18K|ZNF331_uc002qcc.1_Missense_Mutation_p.E18K|ZNF331_uc002qcd.1_Missense_Mutation_p.E18K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CTTTTCTCAGGAGGAGTGGGC	0.517000			T	?	follicular thyroid adenoma									472			183		0	0	0.048971	0	0
VEPH1	79674	broad.mit.edu	37	3	156978935	156978935	+	Silent	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:156978935G>A	uc003fbj.2	-	13	2909	c.2490C>T	c.(2488-2490)acC>acT	p.T830T	VEPH1_uc003fbk.2_Silent_p.T830T|VEPH1_uc010hvu.2_Silent_p.T785T	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	830						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACAGATATGTGGTTACTTCTC	0.408000														72			44		0	0	0.048971	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														10			3		0	0	0.021553	0	0
GREM2	64388	broad.mit.edu	37	1	240656344	240656344	+	Silent	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:240656344G>A	uc021plf.1	-	0	432	c.432C>T	c.(430-432)ttC>ttT	p.F144F	GREM2_uc001hys.3_Silent_p.F144F	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	144	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCTTGAGTCGGAAGGGTGGGT	0.647000														58			38		0	0	0.042209	0	0
LOC650368	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	G	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:3427885A>G	uc010qxs.1	+	8		c.878A>G			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		AGCTTCACAGATCCACCGCTG	0.587000														26			3		0	0	0.004672	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40869	40869	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chrGL000218.1:40869G>A	uc011mfn.2	-	2	150	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	LOC100233156_uc003jah.2_Missense_Mutation_p.R21C					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GAGGCGCTGCGGGGCTGGGGA	0.682000														11			3		0	0	0.014758	0	0
GPR27	2850	broad.mit.edu	37	3	71803791	71803791	+	Silent	SNP	G	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:71803791G>T	uc011bge.2	+	0	591	c.591G>T	c.(589-591)acG>acT	p.T197T	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_Intron	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	197						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGGGCGCCACGCACCTCGTCT	0.746000														3			4		2.56e-06	2.84672e-06	0.009096	1	0
VRK1	7443	broad.mit.edu	37	14	97326941	97326941	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:97326941G>A	uc001yft.3	+	10	1043	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_003384	NP_003375	Q99986	VRK1_HUMAN	Homo sapiens vaccinia related kinase 1 (VRK1), mRNA.	313	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AGACTACACTGAAAAACCTCT	0.323000														20			14		0	0	0.020292	0	0
GRM3	2913	broad.mit.edu	37	7	86468867	86468867	+	Silent	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:86468867G>A	uc003uid.3	+	3	3136	c.2037G>A	c.(2035-2037)agG>agA	p.R679R	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.R551R|GRM3_uc010leh.3_Silent_p.R271R	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	679					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCGCTCAGAGGCCAAAATTCA	0.547000														127			4		0	0	0.009096	0	0
E4F1	1877	broad.mit.edu	37	16	2282496	2282496	+	Missense_Mutation	SNP	C	T	T	rs144383218		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:2282496C>T	uc002cpm.3	+	4	697	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	E4F1_uc010bsi.3_Missense_Mutation_p.R217C|E4F1_uc010bsj.3_Missense_Mutation_p.R217C	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	217	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TCACAGCAGCCGCAAGGACCA	0.697000														19			14		0	0	0.028581	0	0
OR4X2	119764	broad.mit.edu	37	11	48266712	48266712	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:48266712C>T	uc001ngs.1	+	0	57	c.57C>T	c.(55-57)tgC>tgT	p.C19C		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAGGGTTTGCTTTGTGATAT	0.448000														87			58		0	0	0.048971	0	0
MYH8	4626	broad.mit.edu	37	17	10297737	10297737	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:10297737C>T	uc002gmm.2	-	34	5090	c.4995G>A	c.(4993-4995)cgG>cgA	p.R1665R	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1665					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1665R(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCCTGGCCCCGGAGAGCAT	0.532000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					39			30		0	0	0.034045	0	0
DUSP5	1847	broad.mit.edu	37	10	112262482	112262482	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:112262482G>A	uc001kzd.3	+	1	638	c.383G>A	c.(382-384)gGa>gAa	p.G128E		NM_004419	NP_004410	Q16690	DUS5_HUMAN	Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.	128	Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TTTGTAGGGGGATATGAGACT	0.408000														19			42		0	0	0.111260	0	0
CRYGB	1419	broad.mit.edu	37	2	209007511	209007511	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:209007511C>T	uc002vcp.4	-	2	412	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	127	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCCTCCAGCACATTGAGGGAG	0.542000														108			73		0	0	0.048971	0	0
JPH3	57338	broad.mit.edu	37	16	87678021	87678021	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:87678021C>T	uc002fkd.3	+	1	794	c.540C>T	c.(538-540)gaC>gaT	p.D180D	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	180					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGCATCCCGACGCCTCTCCGG	0.697000														51			40		0	0	0.092188	0	0
GMDS	2762	broad.mit.edu	37	6	1961060	1961060	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:1961060C>T	uc003mtq.3	-	4	698	c.486G>A	c.(484-486)gtG>gtA	p.V162V	GMDS_uc021ykn.1_Silent_p.V132V	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	162					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GTATTTCCTGCACTTTCCCAT	0.498000														99			65		0	0	0.048971	0	0
SMAD1	4086	broad.mit.edu	37	4	146435947	146435947	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr4:146435947C>T	uc003ikc.3	+	1	598	c.182C>T	c.(181-183)cCg>cTg	p.P61L	SMAD1_uc003ikd.3_Missense_Mutation_p.P61L|SMAD1_uc010iov.3_Missense_Mutation_p.P61L|SMAD1_uc011cic.2_Missense_Mutation_p.P61L	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	61	MH1.				BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCAGGGCAACCGAGTAACTGT	0.532000														38			27		0	0	0.091800	0	0
SHANK1	50944	broad.mit.edu	37	19	51175329	51175329	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:51175329G>A	uc002psx.1	-	20	2639	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	SHANK1_uc002psw.1_Missense_Mutation_p.R258C	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	874					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.R874C(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AAAGAAGGACGCTCGTAACTT	0.577000														36			15		0	0	0.038395	0	0
LTBP2	4053	broad.mit.edu	37	14	74969480	74969480	+	Silent	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:74969480G>A	uc001xqa.3	-	33	5433	c.5046C>T	c.(5044-5046)ccC>ccT	p.P1682P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1682					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P1682H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGGTGTCCTCGGGGCCCAGGT	0.632000														89			59		0	0	0.048971	0	0
BLVRA	644	broad.mit.edu	37	7	43827558	43827558	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:43827558G>A	uc010kxv.3	+	3	245	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	BLVRA_uc003tir.3_Missense_Mutation_p.R23Q	NM_001253823	NP_001240752	P53004	BIEA_HUMAN	Homo sapiens biliverdin reductase A (BLVRA), transcript variant 2, mRNA.	23					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	p.R23W(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GGCTCCGTGCGGATGAGGGAC	0.547000														215			4		0	0	0.009096	0	0
ACER1	125981	broad.mit.edu	37	19	6312225	6312225	+	Silent	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:6312225G>A	uc002mel.2	-	2	363	c.285C>T	c.(283-285)ctC>ctT	p.L95L		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	95						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CACTGCCCAGGAGCCACAGGA	0.627000														102			40		0	0	0.092188	0	0
LRP2	4036	broad.mit.edu	37	2	170034411	170034411	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:170034411T>C	uc002ues.3	-	52	10508	c.10295A>G	c.(10294-10296)aAg>aGg	p.K3432R		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3432					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTGTTTCCCTTTTCCACTGT	0.433000														268			3		0	0	0.004672	0	0
LOC440040	440040	broad.mit.edu	37	11	49598093	49598093	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:49598093G>A	uc010rhy.2	+	1	684	c.206G>A	c.(205-207)tGc>tAc	p.C69Y	LOC440040_uc009ymb.3_Missense_Mutation_p.C69Y					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		AGGGATTCCTGCTGGCATTCG	0.522000														18			8		0	0	0.038147	0	0
DOCK4	9732	broad.mit.edu	37	7	111634282	111634282	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:111634282A>G	uc003vfy.3	-	4	492	c.223T>C	c.(223-225)Ttt>Ctt	p.F75L	DOCK4_uc003vfx.3_Missense_Mutation_p.F75L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.F75L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	75					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCATTTCAAATTGTCTGTGA	0.308000														82			34		0	0	0.054565	0	0
BZRAP1	9256	broad.mit.edu	37	17	56402928	56402928	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:56402928C>T	uc002ivx.4	-	3	1588	c.717G>A	c.(715-717)agG>agA	p.R239R	BZRAP1_uc010dcs.3_Intron|BZRAP1_uc010wnt.2_Silent_p.R239R|LOC100506779_uc021uan.1_Non-coding_Transcript	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	239						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGCAGCTCCCTGCACTCCC	0.657000														26			25		0	0	0.099896	0	0
KIAA0664	23277	broad.mit.edu	37	17	2600045	2600045	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:2600045A>G	uc002fuy.1	-	10	2125	c.2039T>C	c.(2038-2040)cTg>cCg	p.L680P	KIAA0664_uc002fux.1_Missense_Mutation_p.L612P|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	680							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GGTCTCTGCCAGCTCCTTCAC	0.672000														28			16		0	0	0.043863	0	0
A2M	2	broad.mit.edu	37	12	9246146	9246146	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr12:9246146G>A	uc001qvk.1	-	17	2268	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	A2M_uc009zgk.1_Missense_Mutation_p.R569C	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	719	Bait region.|Inhibitory.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGCACCAGGCGTGCATGGCCT	0.443000														22			23		0	0	0.069288	0	0
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	T	T	rs149840192		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				50			908		0	0	0.048971	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746149	77746149	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:77746149C>T	uc002snr.3	-	2	1261	c.846G>A	c.(844-846)ttG>ttA	p.L282L	LRRTM4_uc002snq.3_Silent_p.L282L|LRRTM4_uc002sns.2_Silent_p.L282L|LRRTM4_uc002snt.2_Silent_p.L283L	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	282						integral to membrane		p.L282F(3)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AATCCAAATTCAATTTTTGTA	0.398000														12			15		0	0	0.020292	0	0
LETM1	3954	broad.mit.edu	37	4	1824793	1824793	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr4:1824793C>T	uc003gdv.3	-	8	1695	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L		NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	466					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GCGTGGCCTCCAGCTTGGCCT	0.632000														57			44		0	0	0.039052	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41058282	41058282	+	Silent	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:41058282G>A	uc003jmj.4	-	6	1129	c.639C>T	c.(637-639)caC>caT	p.H213H	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Silent_p.H213H	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	213							binding	p.H213H(4)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCGTGGGCCCGTGGGCCTTAA	0.502000														22			13		0	0	0.105934	0	0
DNAH7	56171	broad.mit.edu	37	2	196720560	196720560	+	Missense_Mutation	SNP	T	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:196720560T>A	uc002utj.4	-	44	8671	c.8570A>T	c.(8569-8571)cAa>cTa	p.Q2857L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2857	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCCTTCTTTTGTTTATTTAA	0.403000														216			140		0	0	0.048971	0	0
DDX56	54606	broad.mit.edu	37	7	44608558	44608558	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:44608558G>A	uc003tlg.3	-	10	1970	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.R403W|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	443					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding	p.R443R(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTTGCCTCCCGAATGGCCTGC	0.537000														191			66		0	0	0.048971	0	0
COL14A1	7373	broad.mit.edu	37	8	121238908	121238908	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:121238908C>T	uc003yox.3	+	15	2172	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_uc003yoy.3_Missense_Mutation_p.T314M	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	636	Fibronectin type-III 5.		T -> A (in dbSNP:rs56815167).		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483000														39			23		0	0	0.069288	0	0
KCNK10	54207	broad.mit.edu	37	14	88652407	88652407	+	Silent	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:88652407G>A	uc001xwm.3	-	6	1226	c.1104C>T	c.(1102-1104)caC>caT	p.H368H	KCNK10_uc001xwn.3_Silent_p.H368H|KCNK10_uc001xwo.3_Silent_p.H363H	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	363					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R368W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCAGCTTATCGTGGATCTCCA	0.662000														19			21		0	0	0.055883	0	0
CANT1	124583	broad.mit.edu	37	17	76991223	76991223	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:76991223C>T	uc002jwj.3	-	2	1207	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	CANT1_uc002jwn.3_Missense_Mutation_p.G238S|CANT1_uc002jwk.3_Missense_Mutation_p.G238S|CANT1_uc002jwl.2_Intron	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	238					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACCACATCACCCGTAGTGGTC	0.627000			T	ETV4	prostate									24			18		0	0	0.033300	0	0
WASH3P	374666	broad.mit.edu	37	15	102516350	102516350	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr15:102516350G>A	uc002cdi.3	+	10	2096	c.676G>A	c.(676-678)Gga>Aga	p.G226R	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G425R(2)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTCTGGGAAAGGACCTGGGGC	0.622000														34			4		0	0	0.029380	0	0
BTN2A1	11120	broad.mit.edu	37	6	26463544	26463544	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:26463544G>A	uc003nib.2	+	3	751	c.503G>A	c.(502-504)aGa>aAa	p.R168K	BTN2A1_uc021yni.1_Missense_Mutation_p.R168K|BTN2A1_uc003nic.2_Missense_Mutation_p.R168K|BTN2A1_uc011dko.2_Missense_Mutation_p.R107K	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	168					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGCATATCTAGAGGGTGGTAC	0.587000														72			49		0	0	0.048971	0	0
ZNF431	170959	broad.mit.edu	37	19	21366713	21366713	+	Missense_Mutation	SNP	G	C	C			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:21366713G>C	uc010ecr.2	+	4	1757	c.1610G>C	c.(1609-1611)aGa>aCa	p.R537T	ZNF431_uc002npp.2_Missense_Mutation_p.R536T|ZNF431_uc010ecq.2_Missense_Mutation_p.R445T	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	Homo sapiens zinc finger protein 431 (ZNF431), mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R536G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						ATTCATACTAGACAGAAACCC	0.323000														78			32		0	0	0.050027	0	0
OR1M1	125963	broad.mit.edu	37	19	9204448	9204448	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:9204448C>T	uc010xkj.2	+	0	528	c.528C>T	c.(526-528)caC>caT	p.H176H		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGTGCCTCACTACTTCTGCG	0.572000														173			62		0	0	0.048971	0	0
WDR7	23335	broad.mit.edu	37	18	54424326	54424326	+	Silent	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:54424326G>A	uc002lgk.1	+	14	2713	c.2502G>A	c.(2500-2502)tcG>tcA	p.S834S	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Silent_p.S834S	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	834								p.V833V(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCACCGTATCGTTTGGCCTCT	0.493000														127			82		0	0	0.048971	0	0
RPTN	126638	broad.mit.edu	37	1	152128610	152128610	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:152128610G>A	uc001ezs.1	-	2	1030	c.965C>T	c.(964-966)aCg>aTg	p.T322M		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	322	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGTCTGTCCGTCTGACTGTA	0.498000														513			383		0	0	0.048971	0	0
DHRS2	10202	broad.mit.edu	37	14	24109024	24109024	+	Missense_Mutation	SNP	G	A	A	rs146408773		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:24109024G>A	uc001wkt.4	+	3	787	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	DHRS2_uc010aku.1_Missense_Mutation_p.V114I|DHRS2_uc001wku.4_Missense_Mutation_p.V114I|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	92					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGTGGGGGCGTCGACTTCCT	0.642000														40			33		0	0	0.064281	0	0
COL6A3	1293	broad.mit.edu	37	2	238303658	238303658	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:238303658T>C	uc002vwl.2	-	2	566	c.281A>G	c.(280-282)aAt>aGt	p.N94S	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.N94S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	94	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGATACGTATTTAACAGGAA	0.368000														49			36		0	0	0.069456	0	0
COL22A1	169044	broad.mit.edu	37	8	139895346	139895346	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:139895346C>T	uc003yvd.3	-	1	517	c.70G>A	c.(70-72)Ggc>Agc	p.G24S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	24					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCTGGCAGCCGCCGCCCCCA	0.672000										HNSCC(7;0.00092)				7			3		0	0	0.014758	0	0
MECOM	2122	broad.mit.edu	37	3	168838969	168838969	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:168838969C>T	uc011bpj.1	-	6	1410	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	MECOM_uc010hwk.1_Missense_Mutation_p.R171Q|MECOM_uc003ffj.3_Missense_Mutation_p.R213Q|MECOM_uc003ffi.3_Missense_Mutation_p.R148Q|MECOM_uc011bpi.1_Missense_Mutation_p.R149Q|MECOM_uc003ffn.3_Missense_Mutation_p.R148Q|MECOM_uc003ffk.2_Missense_Mutation_p.R148Q|MECOM_uc003ffl.2_Missense_Mutation_p.R308Q|MECOM_uc011bpk.1_Missense_Mutation_p.R148Q|MECOM_uc010hwn.2_Missense_Mutation_p.R336Q	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCGAATGTGCCGCTGAAGGTT	0.517000														36			25		0	0	0.091800	0	0
UBE2D4	51619	broad.mit.edu	37	7	43990260	43990260	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:43990260A>G	uc003tja.2	+	5	464	c.367A>G	c.(367-369)Ata>Gta	p.I123V	POLR2J4_uc003tjc.2_Intron|UBE2D4_uc003tjb.2_Missense_Mutation_p.I85V	NM_015983	NP_057067	Q9Y2X8	UB2D4_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 4 (putative) (UBE2D4), mRNA.	123					protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						GGTGCCAGAGATAGCACACAC	0.572000														72			21		0	0	0.062417	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904069	21904069	+	RNA	SNP	C	G	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:21904069C>G	uc002gza.2	+	0		c.8C>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		tccgaggctccggcctgacct	0.662000														20			3		0	0	0.009096	0	0
MPO	4353	broad.mit.edu	37	17	56355470	56355470	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:56355470C>T	uc002ivu.1	-	6	1099	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	308					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGGATGCAGTCGGCTTGGTTC	0.622000														66			34		0	0	0.074837	0	0
NAGLU	4669	broad.mit.edu	37	17	40695945	40695945	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:40695945A>G	uc002hzv.3	+	5	2261	c.1921A>G	c.(1921-1923)Aac>Gac	p.N641D		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	641						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTACGAGCAGAACAGCCGCTA	0.627000														9			9		0	0	0.047766	0	0
DGKD	8527	broad.mit.edu	37	2	234360660	234360660	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:234360660C>T	uc002vui.1	+	17	2230	c.2218C>T	c.(2218-2220)Cgc>Tgc	p.R740C	DGKD_uc002vuj.1_Missense_Mutation_p.R696C|DGKD_uc010fyh.1_Missense_Mutation_p.R607C|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	740					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGTCATCAGTCGCCTGTTAAT	0.493000														63			41		0	0	0.039052	0	0
VCAM1	7412	broad.mit.edu	37	1	101198155	101198155	+	Silent	SNP	A	G	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:101198155A>G	uc001dti.3	+	6	1928	c.1707A>G	c.(1705-1707)acA>acG	p.T569T	VCAM1_uc010ouj.2_Silent_p.T507T|VCAM1_uc001dtj.3_Silent_p.T477T	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	569	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TAATTTCTACAAAAATGGAAG	0.458000														50			37		0	0	0.069456	0	0
BLK	640	broad.mit.edu	37	8	11414294	11414294	+	Silent	SNP	C	T	T	rs139994406	by1000genomes	TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:11414294C>T	uc003wty.3	+	8	1481	c.900C>T	c.(898-900)taC>taT	p.Y300Y		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	300	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Y300Y(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCCGACTCTACGCAGTGGTCA	0.617000														40			28		0	0	0.037714	0	0
RNASEL	6041	broad.mit.edu	37	1	182544690	182544690	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:182544690G>A	uc009wxz.2	-	6	2320	c.2063C>T	c.(2062-2064)cCt>cTt	p.P688L		NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	688	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity	p.D687N(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ATACAGGGAAGGGTCTCCAAT	0.398000														40			25		0	0	0.034045	0	0
SIVA1	10572	broad.mit.edu	37	14	105222095	105222095	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:105222095C>T	uc001yph.3	+	1	316	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	SIVA1_uc010tyj.1_Missense_Mutation_p.R83C|SIVA1_uc001ypg.1_Missense_Mutation_p.R83C|SIVA1_uc001ypi.3_Intron|SIVA1_uc021sel.1_5'Flank	NM_006427	NP_006418	O15304	SIVA_HUMAN	Homo sapiens SIVA1, apoptosis-inducing factor (SIVA1), transcript variant 1, mRNA.	83					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis	cytoplasm|mitochondrion|nucleoplasm|nucleus	CD27 receptor binding|caspase activator activity|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		GAGGGCTGCACGTGGGCAGAT	0.667000														25			16		0	0	0.028581	0	0
GJA3	2700	broad.mit.edu	37	13	20716908	20716908	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr13:20716908C>T	uc001umx.1	-	1	692	c.520G>A	c.(520-522)Gag>Aag	p.E174K	GJA3_uc021rgz.1_Missense_Mutation_p.E174K	NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA.	174					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GGCTTCAGCTCGAAGCCGTAC	0.597000														45			20		0	0	0.069288	0	0
L32131	0	broad.mit.edu	37	17	58511145	58511145	+	RNA	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:58511145C>T	uc002iyr.1	-	0		c.2213G>A								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		ATGAGGGTGGCGGCCATCAAC	0.463000														24			15		0	0	0.028581	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														15			5		0	0	0.014758	0	0
FLG2	388698	broad.mit.edu	37	1	152328212	152328212	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:152328212G>A	uc001ezw.4	-	2	2123	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	684	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTCATGTTGTCCAAAA	0.473000														326			206		0	0	0.048971	0	0
RNF213	57674	broad.mit.edu	37	17	78354716	78354716	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:78354716C>T	uc002jyh.2	+	56	14016	c.13873C>T	c.(13873-13875)Cca>Tca	p.P4625S	RNF213_uc021uen.1_Missense_Mutation_p.P4576S|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGGCTGCCCCCAGTGGTCTT	0.597000														237			139		0	0	0.048971	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755693	140755693	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:140755693C>T	uc003ljy.2	+	0	2043	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.S681S	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	684					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGCCCTCCGCCAAACCCA	0.682000														80			46		0	0	0.048971	0	0
SYK	6850	broad.mit.edu	37	9	93606246	93606246	+	Silent	SNP	G	A	A	rs139401525	by1000genomes	TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr9:93606246G>A	uc004aqz.3	+	1	271	c.66G>A	c.(64-66)cgG>cgA	p.R22R	SYK_uc004ara.3_Silent_p.R22R|SYK_uc004arb.3_Silent_p.R22R|SYK_uc004arc.3_Silent_p.R22R|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	22	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						ACATCACCCGGGAGGAGGCAG	0.632000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									16			10		0	0	0.058154	0	0
ELTD1	64123	broad.mit.edu	37	1	79392754	79392754	+	Silent	SNP	T	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:79392754T>A	uc001diq.4	-	7	1056	c.900A>T	c.(898-900)gtA>gtT	p.V300V		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	300			V -> L (in dbSNP:rs12754818).		neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCTTATAATATACAAATGCAA	0.274000														44			24		0	0	0.083992	0	0
ITGAD	3681	broad.mit.edu	37	16	31405625	31405625	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:31405625G>A	uc010cap.1	+	1	149	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	ITGAD_uc010vfl.1_Missense_Mutation_p.G34S|ITGAD_uc002ebv.1_Missense_Mutation_p.G34S	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	34					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G34C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATGCAGGCGGCTTTGGGCA	0.582000														42			18		0	0	0.043863	0	0
NDN	4692	broad.mit.edu	37	15	23932258	23932258	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr15:23932258G>A	uc001ywk.3	-	0	193	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	36					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGCCAGGGTCGCGGACGGAGG	0.701000									Prader-Willi syndrome					15			11		0	0	0.069234	0	0
AL117485	0	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	A	A	rs9306211		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr22:18846098G>A	uc002zoe.3	+	4		c.2460G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		ATGCCTCGGCGCTCGATCTCC	0.622000														64			4		0	0	0.029380	0	0
MYOF	26509	broad.mit.edu	37	10	95070355	95070355	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:95070355C>T	uc001kin.3	-	51	6058	c.5935G>A	c.(5935-5937)Gac>Aac	p.D1979N	MYOF_uc001kio.3_Missense_Mutation_p.D1966N|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1979					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGCCTCTCGTCGGCCTCCTTC	0.493000														15			39		0	0	0.048971	0	0
ZNF441	126068	broad.mit.edu	37	19	11890886	11890886	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:11890886G>T	uc010dyj.3	+	3	441	c.247G>T	c.(247-249)Gga>Tga	p.G83*	ZNF441_uc002msn.4_Nonsense_Mutation_p.G39*	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAATGTGGAGGACCCTTTAC	0.383000														71			21		3.51602e-12	3.94134e-12	0.049695	1	0
ABCA4	24	broad.mit.edu	37	1	94486937	94486937	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:94486937G>A	uc001dqh.3	-	34	4981	c.4877C>T	c.(4876-4878)gCc>gTc	p.A1626V	ABCA4_uc009wdp.1_5'Flank	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1626					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTGACCAGGGCATGCCAGCC	0.517000														167			4		0	0	0.009096	0	0
ZNF536	9745	broad.mit.edu	37	19	31040141	31040141	+	Silent	SNP	C	T	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:31040141C>T	uc002nsu.1	+	3	3753	c.3615C>T	c.(3613-3615)ggC>ggT	p.G1205G	ZNF536_uc010edd.1_Silent_p.G1205G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAGCGATGGCGGGGACAGCC	0.597000														70			32		0	0	0.050027	0	0
NPLOC4	55666	broad.mit.edu	37	17	79526328	79526328	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:79526328G>A	uc002kat.4	-	16	1966	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	NPLOC4_uc002kar.3_Non-coding_Transcript|NPLOC4_uc010dic.3_Non-coding_Transcript|NPLOC4_uc002kas.3_3'UTR	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	595					ER-associated protein catabolic process|Golgi organization|cellular membrane fusion	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCCTGTGCCTGGCTGGTTCAT	0.672000														10			10		0	0	0.080935	0	0
PTEN	5728	broad.mit.edu	37	10	89624305	89624305	+	Splice_Site	SNP	T	G	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:89624305T>G	uc001kfb.3	+	1	1111	c.79_splice	c.e1+1	p.Y27_splice	PTEN_uc021pvw.1_Splice_Site|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	27	Phosphatase tensin-type.		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.Y27D(2)|p.Y27N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACTTGACCTGTATCCATTT	0.463000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				25			42		0	0	0.104719	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002808	41002808	+	Silent	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:41002808G>A	uc003opi.3	-	1	105	c.6C>T	c.(4-6)tgC>tgT	p.C2C	UNC5CL_uc010jxe.1_Silent_p.C2C	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	2					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTCCTGGGGGCACATTCGCC	0.602000														67			4		0	0	0.009096	0	0
FAM64A	54478	broad.mit.edu	37	17	6348675	6348675	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:6348675T>C	uc002gcw.2	+	1	354	c.245T>C	c.(244-246)cTc>cCc	p.L82P	FAM64A_uc002gcu.2_Missense_Mutation_p.L82P	NM_001195228	NP_001182157	Q9BSJ6	FA64A_HUMAN	Homo sapiens family with sequence similarity 64, member A (FAM64A), transcript variant 2, mRNA.	82						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CAGCAGGGCCTCCAGGCTGCA	0.577000														43			40		0	0	0.048971	0	0
DEAF1	10522	broad.mit.edu	37	11	686996	686996	+	Splice_Site	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:686996G>A	uc001lqq.1	-	5	1358	c.665_splice	c.e5-1	p.G222_splice	DEAF1_uc009ycf.1_Splice_Site|DEAF1_uc021qbn.1_Intron	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	222	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GTCCCCGGCCGCCTGCAAGGA	0.607000														49			7		0	0	0.069234	0	0
IRX1	79192	broad.mit.edu	37	5	3599597	3599597	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:3599597G>A	uc003jde.3	+	1	587	c.535G>A	c.(535-537)Gcc>Acc	p.A179T		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CACCTGGTTCGCCAACGCGCG	0.622000														67			41		0	0	0.039052	0	0
IL31RA	133396	broad.mit.edu	37	5	55178899	55178899	+	Missense_Mutation	SNP	G	A	A	rs142659639		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:55178899G>A	uc003jql.3	+	4	674	c.482G>A	c.(481-483)cGt>cAt	p.R161H	IL31RA_uc003jqk.3_Missense_Mutation_p.R161H|IL31RA_uc011cqj.2_Missense_Mutation_p.R19H|IL31RA_uc003jqm.3_Missense_Mutation_p.R142H|IL31RA_uc003jqn.3_Missense_Mutation_p.R161H|IL31RA_uc010iwa.1_Missense_Mutation_p.R129H|IL31RA_uc021xyq.1_Missense_Mutation_p.R142H|IL31RA_uc003jqo.3_Missense_Mutation_p.R19H	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	129	Fibronectin type-III 2.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AAGATTTTCCGTGTGAAACCA	0.353000														63			35		0	0	0.064281	0	0
MST1P2	11209	broad.mit.edu	37	1	16974141	16974141	+	RNA	DEL	G	-	-			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:16974141delG	uc009vow.2	+	4		c.951delG			CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGGCTTGGCCGGGGAGGTCAG	0.667													---	4	---	---	2	---					
EGFR	1956	broad.mit.edu	37	7	55225358	55225358	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:55225358delT	uc003tqk.3	+	10	1456	c.1210delT	c.(1210-1212)tttfs	p.F404fs	EGFR_uc003tqi.3_Frame_Shift_Del_p.F404fs|EGFR_uc003tqj.3_Frame_Shift_Del_p.F404fs|EGFR_uc022adm.1_Frame_Shift_Del_p.F404fs|EGFR_uc010kzg.2_Frame_Shift_Del_p.F359fs|EGFR_uc022adn.1_Frame_Shift_Del_p.F359fs|EGFR_uc011kco.2_Frame_Shift_Del_p.F351fs|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	404					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCTTACAGGGTTTTTGCTGAT	0.448		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			---	2555	---	---	9	---					
KAT6B	23522	broad.mit.edu	37	10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	-	-			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:76784946_76784949delACAA	uc001jwn.1	+	16	4096_4099	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.R1201fs	KAT6B_uc001jwo.1_Frame_Shift_Del_p.R909fs|KAT6B_uc001jwp.1_Frame_Shift_Del_p.R1018fs	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1201					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GGAAGAAAAGACAAACAGAGGAAG	0.451													---	10	---	---	16	---					
LPIN2	9663	broad.mit.edu	37	18	2940600	2940601	+	Splice_Site	INS	-	A	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:2940600_2940601insA	uc002klo.3	-	5	937	c.698_splice	c.e5+1	p.T233_splice		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	233					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CAAAGATACTTACGTCTCTAAA	0.366													---	47	---	---	20	---					
