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
PCDHAC2	56134	broad.mit.edu	37	5	140215379	140215379	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:140215379G>A	uc003lhq.2	+	0	1411	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.G471S	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	485	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCCGCCGGGCTGCCACAT	0.677000														81			24		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109265029	109265029	+	Missense_Mutation	SNP	G	T	T	rs4423040	by1000genomes	TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:109265029G>T	uc001dvx.3	+	4	671	c.671G>T	c.(670-672)cGg>cTg	p.R224L	FNDC7_uc010ova.2_5'UTR	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	225	Fibronectin type-III 3.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TCCTGGGCACGGGCAGAAGGA	0.473000														61			4		0.014758	0.0148416	1	1	0
ZNF329	79673	broad.mit.edu	37	19	58639819	58639819	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:58639819G>A	uc002qrn.3	-	3	1289	c.1052C>T	c.(1051-1053)gCt>gTt	p.A351V	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.A351V	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GTCCCGGAAAGCCTTTCCACA	0.512000														82			11		0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522204	97522204	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr9:97522204C>T	uc004ava.3	+	0	274	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	C9orf3_uc011lui.2_Non-coding_Transcript|C9orf3_uc004aux.2_Missense_Mutation_p.L47F|C9orf3_uc004auy.3_Missense_Mutation_p.L47F|C9orf3_uc004auz.1_Missense_Mutation_p.L47F	NM_001193329	NP_001180258	Q8N6M6	AMPO_HUMAN	Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA.	47					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGTGCTTTTCCTCGAGGATGG	0.443000														67			13		0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15568070	15568070	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:15568070C>T	uc004cww.3	+	17	2091	c.1903C>T	c.(1903-1905)Cac>Tac	p.H635Y	BMX_uc004cwx.4_Missense_Mutation_p.H635Y|BMX_uc004cwy.4_Missense_Mutation_p.H635Y	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	635	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TTACCGGCCCCACCTGGCATC	0.592000														188			19		0	0	1	0	0
BC139719	0	broad.mit.edu	37	16	90161578	90161578	+	Silent	SNP	G	A	A	rs13337896	by1000genomes	TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr16:90161578G>A	uc002fqq.3	+	3	504	c.504G>A	c.(502-504)acG>acA	p.T168T	BC139719_uc002fqp.3_Silent_p.T151T					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000														22			4		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53044203	53044203	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:53044203C>T	uc001sat.3	-	1	753	c.720G>A	c.(718-720)ctG>ctA	p.L240L		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	240	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGAGCCCATCCAGATATCTCT	0.478000														136			13		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38904526	38904526	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:38904526G>A	uc003jln.2	+	8	1608	c.1206G>A	c.(1204-1206)gcG>gcA	p.A402A		NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	402	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.A402V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AGTACATGGCGCGAGTACGGT	0.468000														67			10		0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127225175	127225175	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:127225175A>C	uc003vma.3	-	0	480	c.62T>G	c.(61-63)aTa>aGa	p.I21R		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	21						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGGGTCTCTATAGTCTCCAG	0.552000											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		124			69		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435770	179435770	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:179435770G>A	uc021vsy.1	-	274	67610	c.67385C>T	c.(67384-67386)cCc>cTc	p.P22462L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P16157L|TTN_uc021vta.1_Missense_Mutation_p.P16090L|TTN_uc021vtb.1_Missense_Mutation_p.P15965L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23389	Ig-like 116.						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)			GTCATAGGTGGGTTTCTTCCA	0.443000														138			23		0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105238943	105238944	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:105238943_105238944GG>AA	uc003dvx.3	+	1	802_803	c.106_107GG>AA	c.(106-108)gga>AAa	p.G36K	ALCAM_uc003dvv.3_Missense_Mutation_p.G36K|ALCAM_uc003dvw.2_Missense_Mutation_p.G36K|ALCAM_uc003dvy.3_Missense_Mutation_p.G36K|ALCAM_uc011bhh.1_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	36	Ig-like V-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTCAGCATATGGAGATACCATT	0.381000														67			7		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79374919	79374919	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:79374919G>A	uc021yaw.1	+	18	2540	c.2349G>A	c.(2347-2349)ggG>ggA	p.G783G	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	783	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACTTCGAAGGGACCTTCCATG	0.448000														89			14		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6958648	6958648	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr18:6958648G>A	uc002knm.3	-	54	7886	c.7792C>T	c.(7792-7794)Caa>Taa	p.Q2598*	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Nonsense_Mutation_p.Q51*|LAMA1_uc010wzj.2_Nonsense_Mutation_p.Q2074*	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2598	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCCAATTGGACAGTGATA	0.363000														42			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751522	140751522	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:140751522G>A	uc003ljw.2	+	0	1561	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.D521N|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	523	Cadherin 5.				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)			GCGAGCCTTCGACCACGAGCA	0.682000														71			4		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84498390	84498390	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr10:84498390C>T	uc021pvc.1	+	2	1038	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	NRG3_uc010qlz.1_Silent_p.S337S|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Silent_p.S337S|NRG3_uc001kcp.2_Silent_p.S116S|NRG3_uc001kcq.2_5'UTR|NRG3_uc021pvd.1_Silent_p.S116S|NRG3_uc021pve.1_Silent_p.S141S|NRG3_uc021pvf.1_5'UTR|NRG3_uc021pvg.1_Silent_p.S141S|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Silent_p.S167S|NRG3_uc021pvk.1_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	337					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAACTGATTCCATCTTATCGG	0.413000														60			4		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133670154	133670154	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:133670154C>T	uc003eqa.4	-	5	1033	c.759G>A	c.(757-759)tgG>tgA	p.W253*	SLCO2A1_uc011blv.2_Intron|SLCO2A1_uc010htw.1_Nonsense_Mutation_p.W85*	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	253					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	p.W253*(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AGGCTCCAATCCATCGGGGGT	0.478000														83			15		0	0	1	0	0
STK38L	23012	broad.mit.edu	37	12	27470855	27470855	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:27470855C>A	uc001rhr.3	+	10	1181	c.982C>A	c.(982-984)Cct>Act	p.P328T	STK38L_uc010sjm.2_Missense_Mutation_p.P235T|STK38L_uc010sjn.2_Missense_Mutation_p.P66T|STK38L_uc010sjo.2_5'UTR	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	328	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	ATP binding|actin binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CTCTGAAACACCTCAAGAAAC	0.388000														56			10		6.40141e-05	6.56792e-05	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78804140	78804140	+	Splice_Site	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr9:78804140G>A	uc004akc.2	+	19	3048	c.2510_splice	c.e19+1	p.K837_splice	PCSK5_uc004ajz.3_Splice_Site_p.K837_splice|PCSK5_uc004aka.3_Splice_Site|PCSK5_uc004akb.3_Splice_Site_p.K111_splice	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	837	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCTGCAAAAAGTAAGTGGATC	0.403000														73			19		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370466	17370466	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:17370466G>A	uc002nfs.1	-	5	957	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.P218S|USHBP1_uc010eam.1_Missense_Mutation_p.P210S	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	282							PDZ domain binding	p.P282R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGCTGGTTGGGAAGAGACCCA	0.572000														179			10		0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37688966	37688966	+	Missense_Mutation	SNP	G	A	A	rs111714720	byFrequency	TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr8:37688966G>A	uc003xkj.3	+	7	1344	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	GPR124_uc010lvy.3_Missense_Mutation_p.V320M	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	320	Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCACATCGGCGTGTGGGCCTC	0.652000														38			3		0	0	1	0	0
SPIN2B	474343	broad.mit.edu	37	X	57146322	57146322	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:57146322G>A	uc004duy.3	-	1	1000	c.741C>T	c.(739-741)ttC>ttT	p.F247F	SPIN2B_uc004duz.3_Silent_p.F247F|SPIN2B_uc004dva.3_Silent_p.F247F|SPIN2B_uc022bxw.1_Silent_p.F247F|SPIN2B_uc011mor.1_Non-coding_Transcript	NM_001006682	NP_001006684	Q9BPZ2	SPI2B_HUMAN	Homo sapiens spindlin family, member 2B (SPIN2B), transcript variant 2, mRNA.	247					apoptosis|cell cycle|gamete generation	nucleus				endometrium(3)|large_intestine(1)|skin(1)	5						CATAGATATGGAAATCATCAT	0.368000														65			6		0	0	1	0	0
USF2	7392	broad.mit.edu	37	19	35769606	35769606	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:35769606C>G	uc010xss.1	+	7	842	c.733C>G	c.(733-735)Cgg>Ggg	p.R245G	USF2_uc002nyq.1_Missense_Mutation_p.R245G|USF2_uc002nyr.1_Missense_Mutation_p.R178G|USF2_uc002nyt.1_Missense_Mutation_p.R114G|USF2_uc002nyv.1_Missense_Mutation_p.R47G			Q15853	USF2_HUMAN	Homo sapiens upstream transcription factor 2, c-fos interacting (USF2), transcript variant 1, mRNA.	245	Poly-Arg.				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGCAGTGGAGCGGAGGCGGAG	0.597000														192			33		0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53818087	53818087	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:53818087G>A	uc001scx.2	+	1	145	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	AMHR2_uc009zmy.2_Missense_Mutation_p.R22Q|AMHR2_uc021qyg.1_Missense_Mutation_p.R22Q	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	22					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCAAACAGGCGAACCTGTGTG	0.542000														61			5		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368880	22368880	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr15:22368880T>A	uc010tzu.2	+	0	403	c.305T>A	c.(304-306)tTc>tAc	p.F102Y	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCACAGCTCTTCTTCTTACAC	0.458000														306			35		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034682	16034682	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:16034682G>A	uc002nbu.2	-	6	894	c.858C>T	c.(856-858)ttC>ttT	p.F286F	CYP4F11_uc010eab.1_Silent_p.F286F|CYP4F11_uc002nbt.2_Silent_p.F286F	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	286					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.F286S(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTTCTTGAGGAAATCATCAA	0.532000														85			21		0	0	1	0	0
CLDN1	9076	broad.mit.edu	37	3	190026141	190026141	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:190026141G>A	uc003fsh.3	-	3	801	c.561C>T	c.(559-561)ccC>ccT	p.P187P		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	187					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TTGTTTTTCGGGGACAGGAAC	0.502000														89			17		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60435649	60435649	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr13:60435649C>T	uc001vht.3	-	21	2848	c.2629G>A	c.(2629-2631)Gat>Aat	p.D877N	DIAPH3_uc001vhu.3_Missense_Mutation_p.D614N|DIAPH3_uc001vhv.3_Missense_Mutation_p.D455N	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	877	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTTTTCTGATCTGCTGATTTT	0.338000														60			30		0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20780200	20780200	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr22:20780200G>A	uc002zsj.2	-	10	2183	c.2078C>T	c.(2077-2079)tCc>tTc	p.S693F	SCARF2_uc002zsk.2_Missense_Mutation_p.S688F	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	688	Pro-rich.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGCGGCCTCGGAGCCTGGCGG	0.721000														14			5		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71592656	71592657	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:71592656_71592657AC>TT	uc002shx.3	+	5	2138_2139	c.1815_1816AC>TT	c.(1813-1818)tcacca>tcTTca	p.P606S	ZNF638_uc010fec.2_Missense_Mutation_p.P712S|ZNF638_uc010yqw.1_Missense_Mutation_p.P185S|ZNF638_uc002shw.3_Missense_Mutation_p.P606S|ZNF638_uc002shz.3_Missense_Mutation_p.P606S|ZNF638_uc002shy.3_Missense_Mutation_p.P606S|ZNF638_uc002sia.3_Missense_Mutation_p.P606S|ZNF638_uc002sib.1_Missense_Mutation_p.P606S	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	606					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGGGACATTCACCAGCACAAAA	0.386000														61			8		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152426873	152426873	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:152426873C>T	uc021vrb.1	-	79	12078	c.12049G>A	c.(12049-12051)Gga>Aga	p.G4017R	NEB_uc002txr.3_Missense_Mutation_p.G483R|NEB_uc002txu.3_Missense_Mutation_p.G5718R|NEB_uc021vrc.1_Missense_Mutation_p.G5718R|NEB_uc010fnx.3_Missense_Mutation_p.G4005R|NEB_uc021vrd.1_Missense_Mutation_p.G4017R	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4017					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACGTAGTGTCCCTTCTGCTTC	0.517000														20			3		0	0	1	0	0
TRIM14	9830	broad.mit.edu	37	9	100857210	100857210	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr9:100857210C>T	uc004ayd.2	-	3	657	c.639G>A	c.(637-639)aaG>aaA	p.K213K	TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Silent_p.K213K|TRIM14_uc004ayh.1_Silent_p.K213K	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	213						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				CCACGAGGCCCTTAAAGAAGC	0.562000														78			13		0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296916	154296916	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:154296916A>C	uc001feu.3	+	5	906	c.866A>C	c.(865-867)gAa>gCa	p.E289A	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	289					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAGAGTTGGAAACTCCTGCC	0.577000											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			15		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657506	143657506	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:143657506C>T	uc003wds.1	+	0	487	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GCCATCACATCCTGGGTCAGT	0.532000														75			67		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347863	140347863	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:140347863G>A	uc003lii.3	+	0	2117	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.V504V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	504	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCAGAGGTGACCTACTCCC	0.498000														129			27		0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46925686	46925686	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:46925686T>C	uc010wlr.2	+	4	437	c.358T>C	c.(358-360)Tac>Cac	p.Y120H	CALCOCO2_uc010wlq.2_Missense_Mutation_p.Y24H|CALCOCO2_uc010wls.2_Missense_Mutation_p.Y96H|CALCOCO2_uc002iof.3_Missense_Mutation_p.Y96H|CALCOCO2_uc010wlp.2_Missense_Mutation_p.Y117H	NM_005831	NP_005822	Q13137	CACO2_HUMAN	Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.	96					response to interferon-gamma|viral reproduction	Golgi apparatus|cytoskeleton|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GTTTTCAGCTTACTACCTGCC	0.398000														55			4		0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108926080	108926080	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:108926080G>A	uc004eoi.2	-	4	902	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	ACSL4_uc004eoj.2_Missense_Mutation_p.R92C|ACSL4_uc004eok.2_Missense_Mutation_p.R92C|ACSL4_uc010npp.1_Missense_Mutation_p.R133C	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	133			R -> C (in a colorectal cancer sample; somatic mutation).		fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.R133C(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TTCACTCTGCGATTCACTTCA	0.363000														87			14		0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35661126	35661126	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr20:35661126T>C	uc002xgi.3	-	15	2403	c.2324A>G	c.(2323-2325)cAt>cGt	p.H775R	RBL1_uc002xgj.1_Missense_Mutation_p.H775R	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	775	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCCAGTTGAATGTACCTCTTG	0.368000														177			63		0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27148193	27148193	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:27148193G>A	uc010sjl.2	-	4	905	c.667C>T	c.(667-669)Cag>Tag	p.Q223*		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	223						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GCCTTCACCTGGGGCACACTG	0.498000														112			15		0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227843163	227843163	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:227843163C>T	uc021pjy.1	+	3	1553	c.1377C>T	c.(1375-1377)ccC>ccT	p.P459P	ZNF678_uc001hqw.2_Silent_p.P404P|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	459					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GAGTGAAACCCTACAAATGTG	0.378000														35			4		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805466	54805466	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:54805466C>T	uc003pck.3	+	4	1813	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	566										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCCTCAAATTCAACTATCATT	0.433000														63			10		0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139487974	139487974	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:139487974G>A	uc003qin.3	+	1	1110	c.825G>A	c.(823-825)acG>acA	p.T275T		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	275					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CCCCACCCACGGGCTACTCCA	0.652000														23			6		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2110709	2110709	+	Silent	SNP	C	T	T	rs137854269		TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr16:2110709C>T	uc002con.3	+	10	1120	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.I338I|TSC2_uc002coo.3_Silent_p.I338I|TSC2_uc010uvv.2_Silent_p.I301I|TSC2_uc010uvw.2_Silent_p.I289I|TSC2_uc002cop.3_Silent_p.I138I	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	338	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTATGAGATCGTCCTGTCCA	0.587000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					110			43		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371061	55371061	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:55371061G>A	uc010rii.2	-	0	814	c.789C>T	c.(787-789)ttC>ttT	p.F263F		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGTCCATGGGGAAAGTGGTCG	0.433000														34			28		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4163889	4163889	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr16:4163889G>A	uc002cvx.3	-	1	2094	c.1555C>T	c.(1555-1557)Ctc>Ttc	p.L519F		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	519	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGCTCCATGAGATTGGCCAGG	0.522000														146			34		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131189231	131189231	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:131189231C>T	uc003vqw.4	-	8	1774	c.1516G>A	c.(1516-1518)Ggt>Agt	p.G506S	PODXL_uc003vqx.4_Missense_Mutation_p.G474S	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	506					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TCATGGTAACCATTCTCCACT	0.557000														110			70		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78083818	78083818	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:78083818C>T	uc002jxp.3	+	8	1768	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	GAA_uc002jxo.3_Silent_p.F467F|GAA_uc002jxq.3_Silent_p.F467F	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	467					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGGGGGTTTTCATCACCAACG	0.657000														72			11		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653813	46653813	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr22:46653813C>T	uc003bhh.3	-	0	5407	c.5407G>A	c.(5407-5409)Gaa>Aaa	p.E1803K		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1803					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CACATTTTTTCACTAGATTTT	0.403000														163			57		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397259	397259	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:397259G>A	uc021qbk.1	+	3	832	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	PKP3_uc001lpc.3_Missense_Mutation_p.R253Q	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	253					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCCTGCAGCGATTCCAGAGC	0.736000														10			3		0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1495002	1495002	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:1495002G>A	uc003jcm.3	-	2	423	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	102					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TGGTGCGCATGATGGCCTTCA	0.687000														18			12		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35284637	35284637	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:35284637C>T	uc011kas.2	-	3	1058	c.578G>A	c.(577-579)gGt>gAt	p.G193D		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	193						nucleus	DNA binding	p.G193S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TAGTTGCTCACCGGTAAAAGG	0.388000														39			6		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90136501	90136501	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:90136501G>A	uc003kju.3	+	77	16814	c.16718G>A	c.(16717-16719)aGa>aAa	p.R5573K	GPR98_uc003kjt.3_Missense_Mutation_p.R3279K|GPR98_uc003kjw.3_Missense_Mutation_p.R1234K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5573					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTGGCCAGAGAAGCACTGTA	0.433000														175			32		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124190055	124190055	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:124190055G>A	uc010sah.2	-	0	39	c.39C>T	c.(37-39)atC>atT	p.I13I		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGCCTGCCAGGATAAACTCAG	0.423000														120			20		0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29856347	29856347	+	Silent	SNP	C	T	T	rs3128875	by1000genomes	TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:29856347C>T	uc010jro.3	+	2	599	c.453C>T	c.(451-453)gcC>gcT	p.A151A	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Silent_p.A149A|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	149	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						ATTACATCGCCCTGAACGAGG	0.662000														31			3		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38633303	38633303	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:38633303C>T	uc002ohk.3	+	11	3995	c.3486C>T	c.(3484-3486)tcC>tcT	p.S1162S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1162					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGAGCTTCTCCACCCCCGGTT	0.557000											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		233			49		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49005811	49005811	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:49005811G>A	uc002pjk.3	-	7	760	c.760C>T	c.(760-762)Cag>Tag	p.Q254*		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)		GGGGGCCGCTGGGCTCGGAGG	0.697000														23			7		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124415047	124415047	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:124415047C>A	uc003ehg.3	+	53	7771	c.7644C>A	c.(7642-7644)tgC>tgA	p.C2548*	KALRN_uc003ehk.3_Nonsense_Mutation_p.C851*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2547	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTTATACCTGCATAGCAACAA	0.423000														96			11		1.58986e-06	1.64549e-06	1	1	0
RASSF7	8045	broad.mit.edu	37	11	562264	562264	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:562264G>A	uc001lqc.3	+	2	345	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	C11orf35_uc001lpx.3_5'Flank|RASSF7_uc001lqb.3_Missense_Mutation_p.E104K|RASSF7_uc001lqd.3_Missense_Mutation_p.E104K	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 (RASSF7), transcript variant 1, mRNA.	104					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCACCCCCGGAACGCTGCCT	0.667000														29			7		0	0	1	0	0
C6orf170	221322	broad.mit.edu	37	6	121629166	121629166	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:121629166C>T	uc003pyo.1	-	4	714	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	216					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	p.E216*(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		GTCAGTTTTTCGCAGAGAGTA	0.353000														20			7		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8181640	8181640	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:8181640G>A	uc002mjf.3	-	27	3647	c.3630C>T	c.(3628-3630)ggC>ggT	p.G1210G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1210	EGF-like 17.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGTGCAGTGGCCTTGGTCAC	0.602000														66			4		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34047374	34047374	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr15:34047374C>T	uc001zhi.3	+	57	8578	c.8508C>T	c.(8506-8508)gcC>gcT	p.A2836A	RYR3_uc010bar.3_Silent_p.A2836A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2836					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AATTTATTGCCCATTTAGGTA	0.343000														19			6		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699738	136699738	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:136699738C>T	uc003vtf.1	+	3	749	c.126C>T	c.(124-126)atC>atT	p.I42I	CHRM2_uc003vtg.1_Silent_p.I42I|CHRM2_uc003vti.1_Silent_p.I42I|CHRM2_uc003vtm.1_Silent_p.I42I|CHRM2_uc003vtj.1_Silent_p.I42I|CHRM2_uc003vtk.1_Silent_p.I42I|CHRM2_uc003vtl.1_Silent_p.I42I|CHRM2_uc003vtn.1_Silent_p.I42I|CHRM2_uc003vto.1_Silent_p.I42I|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.I42I	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	42					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCGGGAACATCCTAGTCATGG	0.438000														84			42		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361423	107361423	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr9:107361423G>A	uc011lvp.2	-	0	272	c.272C>T	c.(271-273)aCc>aTc	p.T91I		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AAGGGAAATGGTCTTTCTTTC	0.517000														65			25		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763619	77763619	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr8:77763619G>A	uc003yau.2	+	9	4849	c.4462G>A	c.(4462-4464)Gag>Aag	p.E1488K	ZFHX4_uc003yaw.1_Missense_Mutation_p.E1443K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1443						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGGAAATGGAGAGAGAGTA	0.502000										HNSCC(33;0.089)				42			4		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813552	88813552	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:88813552G>A	uc010iko.1	+	1	496	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		CCATCTTAAAGAAGATCAGAC	0.468000														107			25		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180905209	180905209	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:180905209C>T	uc001gok.2	+	4	2231	c.2164C>T	c.(2164-2166)Cag>Tag	p.Q722*	KIAA1614_uc001gol.1_Nonsense_Mutation_p.Q343*|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	722										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCTGGGACCCCAGTGGCAGCC	0.607000														52			14		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15649691	15649691	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr10:15649691G>A	uc001ioc.1	-	16	1749	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	ITGA8_uc010qcb.1_Silent_p.F568F	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	583					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGTAAACGATGAAATCCTGGC	0.428000														205			41		0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91855955	91855955	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:91855955C>T	uc003ulr.1	-	10	1923	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E	KRIT1_uc010lev.1_Missense_Mutation_p.G137E|KRIT1_uc003ulq.1_Missense_Mutation_p.G344E|KRIT1_uc003uls.1_Missense_Mutation_p.G344E|KRIT1_uc003ult.1_Missense_Mutation_p.G296E|KRIT1_uc003ulu.1_Missense_Mutation_p.G344E|KRIT1_uc003ulv.1_Missense_Mutation_p.G344E	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	344					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTGCACTTTCCTTTCTCTAA	0.353000														37			11		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8501020	8501020	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr9:8501020G>A	uc003zkk.3	-	23	2605	c.1862C>T	c.(1861-1863)cCa>cTa	p.P621L	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	621	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTGGAACTTGGGCTGGTGCA	0.433000										TSP Lung(15;0.13)				47			5		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764346	120764346	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:120764346C>T	uc003eec.4	+	4	574	c.434C>T	c.(433-435)cCa>cTa	p.P145L	STXBP5L_uc011bji.2_Missense_Mutation_p.P145L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	145					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAAAAAAGGCCAGCCATACTC	0.348000														118			9		0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120528376	120528376	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:120528376C>T	uc003idh.3	-	1	384	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	PDE5A_uc003idf.3_Missense_Mutation_p.E35K|PDE5A_uc003idg.3_Missense_Mutation_p.E25K	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	77					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.E77K(2)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GAGCAAGATTCGGTGTGGCCT	0.517000														48			10		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754968	76754968	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr18:76754968G>A	uc002lmt.3	+	1	2977	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	SALL3_uc010dra.3_Intron	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	993					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GAGCGCGTTGGAAATCCACTA	0.572000														38			13		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573286	140573286	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:140573286G>A	uc003lix.3	+	0	1335	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	387	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATTCAAGAGAATCTGCCAT	0.428000														66			14		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87235210	87235210	+	Missense_Mutation	SNP	G	A	A	rs138931035	byFrequency	TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr8:87235210G>A	uc003ydq.1	-	1	906	c.808C>T	c.(808-810)Ctc>Ttc	p.L270F	SLC7A13_uc003ydr.1_Missense_Mutation_p.L261F	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	270						integral to membrane	amino acid transmembrane transporter activity	p.L270L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CCTGAAGAGAGAATTTCCCTG	0.383000														75			7		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45499915	45499915	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr21:45499915C>T	uc002zea.3	+	12	1799	c.1630C>T	c.(1630-1632)Ctc>Ttc	p.L544F	TRAPPC10_uc010gpo.3_Missense_Mutation_p.L255F|TRAPPC10_uc011afa.2_5'Flank	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	544					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.L544L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GACCAGCAGCCTCTTAGCCAG	0.582000														47			4		0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100731068	100731068	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:100731068G>A	uc003uxq.3	+	2	706	c.475G>A	c.(475-477)Gag>Aag	p.E159K	TRIM56_uc003uxr.3_Missense_Mutation_p.E159K|TRIM56_uc022aiw.1_Missense_Mutation_p.E159K	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	159					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGGTATGATGAGGAGGCCCG	0.697000														19			3		0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103499518	103499518	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:103499518G>A	uc004ely.3	-	0	82	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	5					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R5H(1)|p.L4H(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GTGTACCCGCGAAGAGACTCC	0.587000														193			21		0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39046769	39046769	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:39046769C>T	uc003ooj.4	+	8	981	c.921C>T	c.(919-921)ctC>ctT	p.L307L	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	307					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	ACTACTGGCTCATTATCCGGC	0.587000														173			32		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52402787	52402787	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:52402787G>A	uc011bef.2	+	36	6057	c.5796G>A	c.(5794-5796)cgG>cgA	p.R1932R		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1932	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGTTCATCCGGGCGGGGGCCA	0.597000														149			24		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					60			52		0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226693	43226693	+	Silent	SNP	A	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:43226693A>C	uc002iig.3	+	0	2010	c.136A>C	c.(136-138)Agg>Cgg	p.R46R		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	46					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGAGGACAGTAGGTGGCAATC	0.667000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			9		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21658840	21658840	+	Splice_Site	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:21658840G>A	uc003svc.3	+	24	4423	c.4392_splice	c.e24+1	p.K1464_splice		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1464	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGACTGAGAAGGTAGTGTCCT	0.483000									Kartagener syndrome					26			5		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247592886	247592886	+	Splice_Site	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:247592886G>A	uc001icr.3	+	6	2295	c.2157_splice	c.e6-1	p.G719_splice	NLRP3_uc001ics.3_Splice_Site_p.G719_splice|NLRP3_uc001icu.3_Splice_Site_p.G719_splice|NLRP3_uc001icw.3_Intron|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Splice_Site_p.G717_splice	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	719					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTAATTCCTAGATTGGTGAAC	0.493000														111			7		0	0	1	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28975100	28975100	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr16:28975100C>T	uc002dru.3	+	7	1191	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	NPIPL1_uc010vct.2_Intron|NFATC2IP_uc002drt.3_Silent_p.F113F|NFATC2IP_uc002drv.3_Silent_p.F111F|NFATC2IP_uc010vdh.2_Silent_p.F100F	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein (NFATC2IP), mRNA.	392	Ubiquitin-like.					cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						TCTCCTTCTTCTTTGATGGGA	0.552000														73			12		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494363	55494363	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:55494363C>T	uc021vbq.1	+	5	1408	c.1297C>T	c.(1297-1299)Ctc>Ttc	p.L433F	NLRP2_uc010yfp.2_Missense_Mutation_p.L410F|NLRP2_uc002qij.3_Missense_Mutation_p.L433F|NLRP2_uc010esp.3_Missense_Mutation_p.L411F|NLRP2_uc010esn.3_Missense_Mutation_p.L409F|NLRP2_uc010eso.3_Missense_Mutation_p.L430F	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	433	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCTGCGTTTCCTCTGCAGCCG	0.701000														23			6		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132437903	132437903	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:132437903G>A	uc003epe.2	-	2	709	c.605C>T	c.(604-606)gCt>gTt	p.A202V	NPHP3_uc003epf.2_5'UTR	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	202					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATACCCTGAGCCTGTAGCCT	0.393000														70			16		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044280	133044280	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr8:133044280G>A	uc003ytg.2	-	10	879	c.879C>T	c.(877-879)ttC>ttT	p.F293F	OC90_uc011lix.1_Silent_p.F293F	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	309					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.R292Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCAGGTGCAGGAAGGTGAATC	0.547000														86			14		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227942739	227942739	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:227942739G>A	uc021vxr.1	-	23	1959	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	COL4A4_uc021vxs.1_Missense_Mutation_p.P620S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	620	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G619D(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTGCCTGGGGGGCCCAGAGGT	0.587000														24			7		0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88234997	88234997	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:88234997A>G	uc003hqo.2	-	4	736	c.673T>C	c.(673-675)Ttc>Ctc	p.F225L	HSD17B13_uc010ikk.2_Missense_Mutation_p.F189L	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	225						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTTTGGTGAACCCAGTATTC	0.403000														48			10		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27326100	27326100	+	Silent	SNP	T	G	G			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:27326100T>G	uc003cdt.2	-	22	2281	c.2007A>C	c.(2005-2007)gtA>gtC	p.V669V	NEK10_uc003cds.1_Silent_p.V66V	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	669	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TACTAACGGTTACTTTGTCCT	0.378000														75			6		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597142	136597142	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:136597142G>A	uc003qgx.1	-	4	1774	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D	BCLAF1_uc003qgy.1_Silent_p.D505D|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.D505D|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	507					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AATCAAAGAGGTCTTTGAGCT	0.398000														225			18		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52507758	52507758	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:52507758C>T	uc003ded.4	+	6	812	c.678C>T	c.(676-678)caC>caT	p.H226H	NISCH_uc003dec.1_Silent_p.H226H	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	226	Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		AGATAAGTCACTGTGATGCTA	0.512000														25			5		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215890426	215890426	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:215890426G>A	uc002vew.3	-	10	1478	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S	ABCA12_uc002vev.3_Missense_Mutation_p.P102S|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	420					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGAACTGGAGGAAAGTAATCT	0.299000														52			9		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224888	248224888	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:248224888G>A	uc001idx.1	+	0	905	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCCCTGACACGAGTGAGTCAG	0.473000														69			14		0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79571669	79571670	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:79571669_79571670GG>CA	uc002kau.3	-	7	920_921	c.738_739CC>TG	c.(736-741)aaccag>aaTGag	p.Q247E	NPLOC4_uc002kat.4_Missense_Mutation_p.Q247E|NPLOC4_uc010wur.1_Missense_Mutation_p.Q86E	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	247					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)			CCAAAATGCTGGTTCCCTGTCT	0.475000														33			6		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692834	49692834	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:49692834C>T	uc003cxe.4	+	4	5959	c.5845C>T	c.(5845-5847)Cct>Tct	p.P1949S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1949					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGACCCTGAGCCTCCTGAGCC	0.677000														51			6		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110662161	110662161	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:110662161C>T	uc011cft.2	-	13	1872	c.1664G>A	c.(1663-1665)gGg>gAg	p.G555E	CFI_uc003hzq.3_Missense_Mutation_p.G344E|CFI_uc003hzr.4_Missense_Mutation_p.G547E	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	547	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		ACAGTTTTCCCCCCAACTCAC	0.463000														258			50		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172265	207172265	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:207172265G>T	uc002vbp.2	+	4	3263	c.3013G>T	c.(3013-3015)Ggt>Tgt	p.G1005C		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1005							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTAGATTCTGGTGTCCCTCA	0.343000														54			11		0.0692343	0.0692343	1	1	0
ERO1LB	56605	broad.mit.edu	37	1	236389792	236389792	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:236389792C>T	uc001hxt.3	-	11	1085	c.829G>A	c.(829-831)Gga>Aga	p.G277R		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	277					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			ATATTAGGTCCCCAACTGGGC	0.358000														68			6		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104570719	104570719	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr14:104570719G>A	uc001yop.2	+	7	917	c.832G>A	c.(832-834)Gac>Aac	p.D278N	ASPG_uc001yoo.2_Missense_Mutation_p.D306N|ASPG_uc001yoq.2_Missense_Mutation_p.D278N|ASPG_uc001yor.2_Missense_Mutation_p.D278N	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	278	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.P277P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CACCAAGCCCGACCTGCTGCA	0.672000														32			8		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327921	16327921	+	Missense_Mutation	SNP	C	A	A	rs142039862	by1000genomes	TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:16327921C>A	uc003nbt.3	-	7	1592	c.621G>T	c.(619-621)caG>caT	p.Q207H	ATXN1_uc010jpi.3_Missense_Mutation_p.Q207H|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	207	Poly-Gln.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association	p.Q207H(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgctgctgctgct	0.662000														18			3		0.004672	0.00473874	1	1	0
DSPP	1834	broad.mit.edu	37	4	88533573	88533573	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:88533573G>A	uc003hqu.3	+	3	355	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	79					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TCACAAGGGAGAAGGGAATGG	0.468000														31			7		0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73021984	73021984	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:73021984C>T	uc003tyn.1	-	2	467	c.419G>A	c.(418-420)aGc>aAc	p.S140N	MLXIPL_uc003tyk.1_Missense_Mutation_p.S140N|MLXIPL_uc003tym.1_Missense_Mutation_p.S140N|MLXIPL_uc003tyl.1_Missense_Mutation_p.S140N|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.S140N|MLXIPL_uc003tyq.1_5'Flank	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	140					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACACACGGGGCTCTTCCTCCG	0.672000											OREG0018107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			4		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113327860	113327860	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:113327860G>A	uc010syl.2	+	17	1957	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	RPH3A_uc001ttz.3_Missense_Mutation_p.R532Q|RPH3A_uc001tty.3_Missense_Mutation_p.R528Q|RPH3A_uc009zwe.1_Missense_Mutation_p.R528Q|RPH3A_uc010sym.2_Missense_Mutation_p.R483Q|RPH3A_uc001tua.3_Missense_Mutation_p.R292Q	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	532					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGGTCAGCCCGAGGCATGGCC	0.498000														213			16		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998597	120998597	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:120998597C>T	uc010rzo.2	+	7	1911	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	637	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCAGGGCTTCGTCCTCAGCA	0.657000														83			8		0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179086514	179086514	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:179086514G>A	uc001gmj.4	-	7	1648	c.1361C>T	c.(1360-1362)cCa>cTa	p.P454L	ABL2_uc010pnf.2_Missense_Mutation_p.P454L|ABL2_uc010png.2_Missense_Mutation_p.P433L|ABL2_uc010pnh.2_Missense_Mutation_p.P433L|ABL2_uc009wxe.3_Missense_Mutation_p.P433L|ABL2_uc001gmg.4_Missense_Mutation_p.P439L|ABL2_uc001gmi.4_Missense_Mutation_p.P439L|ABL2_uc010pne.2_Missense_Mutation_p.P418L|ABL2_uc001gmk.3_Missense_Mutation_p.P418L|ABL2_uc009wxf.2_Missense_Mutation_p.P439L	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	454	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AAGACTCTCTGGTGCTGTCCA	0.378000			T	ETV6	AML									89			16		0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951822	30951822	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr22:30951822C>T	uc003aig.1	-	3	530	c.390G>A	c.(388-390)cgG>cgA	p.R130R	GAL3ST1_uc003aih.1_Silent_p.R130R|GAL3ST1_uc003aii.1_Silent_p.R130R|GAL3ST1_uc010gvz.1_Silent_p.R130R	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	130					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGGCCCCGGGCCGATAGTCCT	0.627000														80			23		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649925	47649925	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:47649925C>T	uc010jzj.1	+	5	1631	c.1630C>T	c.(1630-1632)Ctc>Ttc	p.L544F	GPR111_uc003oyy.3_Missense_Mutation_p.L476F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	544					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACTCCTTATCCTCTATGGAAT	0.453000														45			7		0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3170085	3170085	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr16:3170085C>T	uc002cub.3	+	6	1559	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	ZNF205_uc002cua.3_Missense_Mutation_p.P475L	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGCGAGAAGCCCTACCACTGC	0.667000														118			9		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154090036	154090036	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:154090036G>A	uc004fmt.3	-	23	6851	c.6680C>T	c.(6679-6681)gCt>gTt	p.A2227V	F8_uc004fms.3_Missense_Mutation_p.A92V	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2227	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.A2227D(3)|p.A2227P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTGAAGTCGAGCTTTTGAAGG	0.448000														255			21		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51799086	51799086	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:51799086G>A	uc003pah.1	-	36	6219	c.5943C>T	c.(5941-5943)atC>atT	p.I1981I	PKHD1_uc010jzn.1_Silent_p.I6I|PKHD1_uc003pai.3_Silent_p.I1981I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1981	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCTGAGCTCGATGGGTCCTG	0.522000											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			13		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887590	97887590	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:97887590G>A	uc011bgu.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTTCTCACAGGATTTTTATAT	0.393000														163			19		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284021	130284021	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:130284021C>T	uc010htl.3	+	2	876	c.845C>T	c.(844-846)tCa>tTa	p.S282L		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	282	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen		p.S282*(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGATAAATTCACTGAGCATG	0.438000														143			17		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133805541	133805541	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:133805541G>A	uc001qgx.4	-	6	1169	c.938C>T	c.(937-939)cCc>cTc	p.P313L	IGSF9B_uc001qgy.1_Missense_Mutation_p.P155L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	313	Ig-like 3.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGAGGCGGAGGGGGAGCGCCC	0.637000														16			3		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116224472	116224472	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr9:116224472C>T	uc004bhq.3	+	3	615	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	RGS3_uc004bhr.3_5'Flank|RGS3_uc004bhs.3_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	136					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGCCAAAGTCCAGGGTGCAGG	0.537000														52			9		0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65061712	65061712	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:65061712C>T	uc001odj.3	+	13	1665	c.1333C>T	c.(1333-1335)Ctg>Ttg	p.L445L	POLA2_uc010rod.1_Silent_p.L237L|POLA2_uc001odk.3_Silent_p.L142L	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	445					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTACTCCGATCTGTCTCGAGA	0.577000														255			76		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411267	43411267	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:43411267G>A	uc002ovj.1	-	4	1146	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Silent_p.L189L|PSG4_uc002ovg.1_Silent_p.L349L	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	350	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGACAAGTCGAGGTTTTCTC	0.463000														305			20		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32165331	32165331	+	Silent	SNP	T	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:32165331T>C	uc003obb.3	-	26	4936	c.4797A>G	c.(4795-4797)gaA>gaG	p.E1599E	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Silent_p.E8E|NOTCH4_uc003oba.3_Silent_p.E259E|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Silent_p.E8E	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1599					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	p.E1599*(1)		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						CGGACTGTACTTCCCCACAGC	0.577000														42			4		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70254743	70254743	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:70254743C>T	uc003tvw.4	+	18	3276	c.2541C>T	c.(2539-2541)gtC>gtT	p.V847V	AUTS2_uc003tvx.4_Silent_p.V823V|AUTS2_uc011keg.2_Silent_p.V299V	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	847										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGAAAGCGTCGAGAAGAGAC	0.612000														65			12		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677497	19677497	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr20:19677497C>T	uc002wrl.3	+	13	1745	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	516						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.T515N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGATCACCTTCCTGGCTGCTG	0.587000														75			5		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459975	107459976	+	Missense_Mutation	DNP	GG	AA	AA	rs142520495		TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:107459975_107459976GG>AA	uc002tdq.3	-	1	577_578	c.458_459CC>TT	c.(457-459)ccc>cTT	p.P153L	ST6GAL2_uc002tdr.3_Missense_Mutation_p.P153L|ST6GAL2_uc002tds.3_Missense_Mutation_p.P153L	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	153					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P153P(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTGGCTCCCCGGGGGAAGGGAA	0.619000														147			31		0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203148912	203148912	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:203148912C>T	uc001gzi.2	-	8	1159	c.988G>A	c.(988-990)Gac>Aac	p.D330N	CHI3L1_uc001gzk.1_Missense_Mutation_p.D66N|CHI3L1_uc001gzj.2_Missense_Mutation_p.D269N|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	330					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTTTCCTGGTCGTCGTATCCT	0.582000														94			13		0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157920993	157920994	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:157920993_157920994GG>AA	uc003fbt.3	+	3	564_565	c.453_454GG>AA	c.(451-456)aaggat>aaAAat	p.D152N	RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.D152N|RSRC1_uc003fbv.3_Intron	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	152					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			aaaaggagaaggataaagggaa	0.446000														20			4		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158142526	158142526	+	Splice_Site	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:158142526G>A	uc002tzg.3	+	3	1877	c.1622_splice	c.e3-1	p.D541_splice	GALNT5_uc010zci.2_Splice_Site	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	541	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTCTGATGTAGACTATCTAAA	0.383000														29			3		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418674	55418674	+	Silent	SNP	C	T	T	rs139890984		TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:55418674C>T	uc001nhs.1	+	0	295	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CATGTTGCAACTGTTTGGAGT	0.413000														110			48		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19067983	19067983	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr16:19067983C>T	uc002dfp.2	+	13	2121	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	TMC7_uc002dfq.3_Missense_Mutation_p.S664F|TMC7_uc010vap.2_Missense_Mutation_p.S554F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	664						integral to membrane		p.S664S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GGTGTCACATCCGAAGCCTTT	0.567000														111			21		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554434	150554434	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:150554434C>T	uc003why.1	+	2	5094	c.876C>T	c.(874-876)ccC>ccT	p.P292P	ABP1_uc003whz.1_Silent_p.P292P|ABP1_uc003wia.1_Silent_p.P292P	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	292					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GGGACTTCCCCAGCCCCATCC	0.697000														24			18		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382094	152382094	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:152382094G>A	uc001ezx.2	-	2	1538	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	488					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTCAAGTAGGAATACAGCT	0.537000														52			17		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262400	45262400	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:45262400C>T	uc003jok.3	-	7	2321	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	766						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGTGCACTTCATTTTTCGGC	0.657000														44			16		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7571154	7571154	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:7571154G>A	uc003src.1	-	2	623	c.506C>T	c.(505-507)cCa>cTa	p.P169L	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	169	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGAACATCTGGATTCTTTGG	0.413000														65			11		0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22509297	22509297	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr14:22509297G>A	uc021rpo.1	+	1	301	c.235G>A	c.(235-237)Gag>Aag	p.E79K	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc010tmm.2_Intron|TRAV20_uc021rpp.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 20, partial cds, clone: un 136.																		GGAAGAAAAGGAGAAAGAAAG	0.468000														17			7		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241373	3241373	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:3241373C>T	uc004crg.4	-	4	2510	c.2353G>A	c.(2353-2355)Gat>Aat	p.D785N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	785						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTAAAATATCAGCCCAGCGC	0.448000														111			15		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24655568	24655568	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr14:24655568G>A	uc001wmv.1	-	9	1951	c.930C>T	c.(928-930)ccC>ccT	p.P310P	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.P174P|IPO4_uc001wmy.1_Silent_p.P174P|IPO4_uc001wmz.2_Silent_p.P310P	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	310					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCTGGTCCTCGGGATCCAACT	0.562000														182			45		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45194949	45194949	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr20:45194949G>A	uc002xsf.2	-	10	1453	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	SLC13A3_uc010ghn.2_Silent_p.I440I|SLC13A3_uc010zxx.2_Silent_p.I373I|SLC13A3_uc010zxw.2_Silent_p.I421I|SLC13A3_uc002xsg.2_Silent_p.I424I|SLC13A3_uc010gho.2_Silent_p.I389I|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Silent_p.I58I|SLC13A3_uc010zxv.2_Silent_p.I56I	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	471						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGACCACAGTGATGAGCAGCA	0.607000														151			20		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67681825	67681825	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr16:67681825G>A	uc002etn.3	+	12	1155	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	RLTPR_uc010cel.1_Silent_p.G345G|RLTPR_uc010vjr.2_Silent_p.G345G	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	345										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACCTTTCTGGGAATCCTGGGG	0.662000														22			8		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538673	4538673	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:4538673G>A	uc002mau.3	-	1	334	c.323C>T	c.(322-324)tCg>tTg	p.S108L	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	108						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAATTCGGGCGAGAGGCTTTC	0.637000														36			10		0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59789753	59789753	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr14:59789753G>A	uc001xdz.1	+	5	709	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	DAAM1_uc001xea.1_Missense_Mutation_p.R195Q|DAAM1_uc001xeb.1_Missense_Mutation_p.R195Q	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	195	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCTCAAGGCCGGGCTCACGTC	0.458000														35			5		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130922939	130922939	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:130922939C>A	uc001uil.2	-	8	1792	c.1576G>T	c.(1576-1578)Ggc>Tgc	p.G526C	RIMBP2_uc001uim.3_Missense_Mutation_p.G434C	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	526	Fibronectin type-III 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACGCCGTAGCCGGTAACGTTT	0.637000														39			5		3.59834e-05	3.70264e-05	1	1	0
CCDC60	160777	broad.mit.edu	37	12	119916930	119916930	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:119916930G>A	uc001txe.3	+	3	838	c.373G>A	c.(373-375)Gga>Aga	p.G125R	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	125								p.G125E(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAAGACACTGGGAGCTAGAGT	0.488000														40			10		0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76134659	76134659	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:76134659C>T	uc002jup.2	+	13	2051	c.1669C>T	c.(1669-1671)Cac>Tac	p.H557Y	TMC8_uc002juq.2_Missense_Mutation_p.H334Y|TMC8_uc002jur.1_Silent_p.S6S	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	557						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CGCCAGCATCCACTCCTCCTG	0.667000														133			19		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86305050	86305050	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:86305050C>T	uc002sqs.3	-	10	1691	c.1312G>A	c.(1312-1314)Gac>Aac	p.D438N		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	438					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCAGCGTAGTCCACTCGCTTT	0.448000														136			9		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857436	9857436	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr16:9857436C>T	uc010uym.2	-	13	4275	c.3965G>A	c.(3964-3966)gGa>gAa	p.G1322E	GRIN2A_uc002czo.4_Missense_Mutation_p.G1322E|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1322					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTAAAAATTTCCCTCCAGAAG	0.527000														104			19		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333083	42333083	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:42333083C>T	uc002igf.4	-	13	1907	c.1758G>A	c.(1756-1758)atG>atA	p.M586I	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	586	Involved in anion transport.|Membrane (anion exchange).		M -> L (in dbSNP:rs5019).		bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGCGCAGCATCATGGCAAAGA	0.567000														78			10		0	0	1	0	0
SNX2	6643	broad.mit.edu	37	5	122135408	122135408	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:122135408T>C	uc003kte.3	+	2	297	c.248T>C	c.(247-249)tTg>tCg	p.L83S	SNX2_uc011cwn.2_5'UTR	NM_003100	NP_003091	O60749	SNX2_HUMAN	Homo sapiens sorting nexin 2 (SNX2), mRNA.	83					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GAAGTTTCTTTGGACAGCCCT	0.418000														117			19		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66264842	66264842	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:66264842C>T	uc001oig.1	+	15	1834	c.1772C>T	c.(1771-1773)cCc>cTc	p.P591L	DPP3_uc001oif.1_Missense_Mutation_p.P591L|DPP3_uc010rpe.1_Missense_Mutation_p.P580L|BBS1_uc001oih.1_5'UTR	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	591					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ACCATCACTCCCACCACAGGC	0.637000														64			19		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104081987	104081987	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:104081987G>A	uc001tjw.3	+	27	3225	c.3039G>A	c.(3037-3039)tgG>tgA	p.W1013*		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1013	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTAACCGATGGATAAATGTGA	0.378000														99			12		0	0	1	0	0
NTF4	4909	broad.mit.edu	37	19	49564986	49564986	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:49564986C>T	uc002pmf.4	-	1	405	c.269G>A	c.(268-270)cGt>cAt	p.R90H	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.R90H	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	90			R -> C.|R -> H (in a patient with primary open- angle glaucoma; uncertain pathological significance).		adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CTCACCCCGACGACTCGCTGG	0.687000														24			3		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28672084	28672084	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr18:28672084A>T	uc002kwl.4	-	2	788	c.334T>A	c.(334-336)Ttt>Att	p.F112I	DSC2_uc002kwk.4_Missense_Mutation_p.F112I|DSC2_uc010xbo.1_Missense_Mutation_p.F112I	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	112					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGCTCCAAAAAGACAAATATT	0.323000														80			6		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976233	4976233	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:4976233C>T	uc010qyt.2	-	0	711	c.711G>A	c.(709-711)aaG>aaA	p.K237K		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATTGAGAGCCTTAAGCTCCT	0.488000														59			17		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896782	175896782	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:175896782C>T	uc003iuc.3	+	4	776	c.106C>T	c.(106-108)Cct>Tct	p.P36S	ADAM29_uc003iud.3_Missense_Mutation_p.P36S|ADAM29_uc010irr.3_Missense_Mutation_p.P36S|ADAM29_uc011cki.2_Missense_Mutation_p.P36S|ADAM29_uc021xuo.1_Missense_Mutation_p.P36S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	36					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTGGTGATTCCTGTGAGGAT	0.527000														57			13		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128494173	128494173	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:128494173C>T	uc003vnz.4	+	39	6839	c.6630C>T	c.(6628-6630)tcC>tcT	p.S2210S	FLNC_uc003voa.4_Silent_p.S2177S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2210	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGGAGGAGTCCACCCAGGTCG	0.692000														39			10		0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573417	136573417	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:136573417G>A	uc003erf.4	+	1	329	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	SLC35G2_uc003erg.4_Missense_Mutation_p.E39K|SLC35G2_uc010hub.3_Missense_Mutation_p.E39K|SLC35G2_uc021xem.1_Missense_Mutation_p.E39K	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	39						Golgi apparatus|integral to membrane											TGATGGATATGAAGAAATCAA	0.378000														189			42		0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60184160	60184160	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:60184160G>A	uc001npj.3	+	4	2284	c.1719G>A	c.(1717-1719)ggG>ggA	p.G573G	MS4A14_uc001npi.3_Silent_p.G461G|MS4A14_uc001npn.3_Silent_p.G311G|MS4A14_uc001npk.3_Silent_p.G556G|MS4A14_uc001npl.3_Silent_p.G311G|MS4A14_uc001npm.3_Silent_p.G311G	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	573	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAGCCAAAGGGGAACAATACC	0.448000														58			16		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66433544	66433544	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:66433544C>A	uc003dmx.3	-	14	2367	c.2353G>T	c.(2353-2355)Ggc>Tgc	p.G785C	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.G405C|LRIG1_uc003dmw.3_Missense_Mutation_p.G451C|LRIG1_uc010hnz.3_Missense_Mutation_p.G501C|LRIG1_uc010hoa.3_Missense_Mutation_p.G762C	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	785						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTCCTGCAGCCTGCTGCGGGC	0.607000														116			10		0.000673444	0.00068897	1	1	0
SLC38A4	55089	broad.mit.edu	37	12	47172354	47172354	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:47172354T>G	uc001rpi.2	-	10	1322	c.923A>C	c.(922-924)gAc>gCc	p.D308A	SLC38A4_uc001rpj.2_Missense_Mutation_p.D308A	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	308					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TACTCCACTGTCATGAAGAGA	0.483000														63			21		0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70180091	70180091	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr16:70180091C>T	uc002eyf.1	+	15	2879	c.1922C>T	c.(1921-1923)gCc>gTc	p.A641V	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.A541V|PDPR_uc002eyg.1_Missense_Mutation_p.A369V|PDPR_uc002eyh.2_5'UTR|PDPR_uc010vls.1_5'UTR	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	641					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TTGTCCTATGCCCCTATGACT	0.473000														93			14		0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68805531	68805531	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:68805531G>A	uc003jwu.3	+	2	1050	c.614G>A	c.(613-615)gGa>gAa	p.G205E	OCLN_uc003jwv.4_Missense_Mutation_p.G205E|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	205	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CAGTCTTCTGGATCTCTATAT	0.403000														194			43		0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72246076	72246076	+	Splice_Site	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:72246076C>T	uc002jkc.3	+	9	962	c.931_splice	c.e9-1	p.T311_splice	TTYH2_uc010wqw.2_Splice_Site_p.T290_splice|TTYH2_uc002jkd.3_Splice_Site	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	311						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTGGCTCAGACCCTGACCACC	0.652000														114			14		0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061571	11061571	+	Silent	SNP	G	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:11061571G>T	uc001qzg.1	-	0	591	c.327C>A	c.(325-327)ctC>ctA	p.L109L	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	Homo sapiens taste receptor, type 2, member 13 (TAS2R13), mRNA.	109					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TCGCTATTTTGAGCAAATAAA	0.358000														43			10		0.00621372	0.00628453	1	1	0
ST14	6768	broad.mit.edu	37	11	130078485	130078485	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:130078485C>T	uc001qfw.3	+	16	2368	c.2175C>T	c.(2173-2175)tcC>tcT	p.S725S		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	725	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGTACAGCTCCATGGTGCGGC	0.612000														39			6		0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83839879	83839879	+	Silent	SNP	T	G	G			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:83839879T>G	uc011dyy.2	+	16	2612	c.2352T>G	c.(2350-2352)acT>acG	p.T784T	DOPEY1_uc003pjs.1_Silent_p.T793T|DOPEY1_uc010kbl.1_Silent_p.T784T	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	793					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGCTCCAGACTCTGATGAATG	0.453000														41			15		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871768	8871768	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:8871768G>A	uc002qzc.2	-	29	4580	c.4398C>T	c.(4396-4398)tcC>tcT	p.S1466S	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.S1367S|KIDINS220_uc002qzb.2_Silent_p.S320S	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1466					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATCGTTGGTGGAAACCCCTG	0.458000														91			12		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149878224	149878224	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:149878224C>T	uc001etg.3	-	10	2354	c.1863G>A	c.(1861-1863)aaG>aaA	p.K621K	SV2A_uc009wlk.3_Silent_p.K73K|SV2A_uc001eth.2_Silent_p.K621K	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	621					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCCTGCCGATCTTGTCCATGA	0.577000														52			6		0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61910505	61910505	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:61910505G>A	uc010deb.1	-	11	1783	c.1466C>T	c.(1465-1467)cCt>cTt	p.P489L	SMARCD2_uc010wpt.1_Missense_Mutation_p.P441L|SMARCD2_uc010dea.1_Missense_Mutation_p.P414L	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	489					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTCCTCCTCAGGATTTCCAAT	0.557000														16			6		0	0	1	0	0
PRPS1	5631	broad.mit.edu	37	X	106888463	106888463	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:106888463G>A	uc004ene.4	+	4	792	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	PRPS1_uc011msj.2_5'UTR|PRPS1_uc010npg.3_Missense_Mutation_p.R163Q	NM_002764	NP_002755	P60891	PRPS1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 1, mRNA.	196					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						CACAAAGAACGGAAGAAGGCC	0.498000														245			24		0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93610975	93610975	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr10:93610975C>T	uc001khp.3	+	20	2994	c.2697C>T	c.(2695-2697)atC>atT	p.I899I		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	899	SAM.				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTTGTAAGATCACTTTGGATG	0.368000														52			11		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430268	29430268	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:29430268C>T	uc003nmi.3	+	2	1165	c.722C>T	c.(721-723)tCc>tTc	p.S241F	OR2H1_uc003nmj.1_Missense_Mutation_p.S241F|OR2H1_uc010jri.2_Missense_Mutation_p.S163F|OR2H1_uc021ytr.1_Missense_Mutation_p.S241F	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						ACCTGCTCCTCCCATCTCACT	0.552000														144			14		0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135076304	135076304	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:135076304C>T	uc002ttw.4	+	3	712	c.567C>T	c.(565-567)ctC>ctT	p.L189L		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	189					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	p.L189L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTATTTACCTCAGTGAGGTGA	0.458000														104			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106780751	106780751	+	RNA	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr14:106780751G>A	uc021ser.1	-	655		c.17943C>T								Parts of antibodies, mostly variable regions.																		GCAGGTGAGGGACAGGGTGTC	0.622000														69			16		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737583	13737583	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:13737583G>A	uc003jfd.2	-	65	11275	c.11233C>T	c.(11233-11235)Cat>Tat	p.H3745Y	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3745	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCATCAGATGAGTTCTTTCT	0.373000									Kartagener syndrome					64			6		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7760719	7760719	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr16:7760719G>A	uc002cys.2	+	15	2154	c.1166G>A	c.(1165-1167)gGg>gAg	p.G389E	RBFOX1_uc002cyt.2_Missense_Mutation_p.G362E|RBFOX1_uc010uyb.1_Missense_Mutation_p.G389E|RBFOX1_uc002cyw.2_3'UTR|RBFOX1_uc002cyy.2_Missense_Mutation_p.G410E|RBFOX1_uc002cyx.2_Missense_Mutation_p.G384E|RBFOX1_uc010uyc.1_Missense_Mutation_p.G383E	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	389					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ATATACCGAGGGGGATACAAC	0.438000														92			43		0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569895	241569895	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:241569895C>T	uc010fzi.2	+	5	1491	c.619C>T	c.(619-621)Ccg>Tcg	p.P207S	GPR35_uc010fzh.2_Missense_Mutation_p.P207S|GPR35_uc021vze.1_Missense_Mutation_p.P176S|GPR35_uc002vzs.2_Missense_Mutation_p.P176S	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	176						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CATGGCGTTCCCGCTGCTGGG	0.662000														60			8		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848606	166848606	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:166848606C>T	uc002udo.4	-	27	5406	c.5179G>A	c.(5179-5181)Gat>Aat	p.D1727N	SCN1A_uc010fpk.3_Missense_Mutation_p.D1699N|SCN1A_uc021vsb.1_Missense_Mutation_p.D1716N	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1727						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGCAATCCATCCCAGCCAGCA	0.473000														211			25		0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155534523	155534523	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:155534523C>T	uc010lqk.1	+	12	2428	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	RBM33_uc011kvv.1_Missense_Mutation_p.S496F	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	687							RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AATACAACTTCTCAGAATGTA	0.398000														108			19		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1254494	1254494	+	Nonsense_Mutation	SNP	G	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:1254494G>C	uc003jcb.1	-	14	3342	c.3284C>G	c.(3283-3285)tCa>tGa	p.S1095*	TERT_uc003jbz.1_Nonsense_Mutation_p.S291*|TERT_uc003jcc.1_Nonsense_Mutation_p.S1032*|TERT_uc003jca.1_Nonsense_Mutation_p.S1083*|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	1095	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.K1094K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGTCCTGAGTGACCCCAGGAG	0.667000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					89			6		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190195433	190195433	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:190195433A>C	uc001gse.1	-	5	972	c.740T>G	c.(739-741)cTc>cGc	p.L247R	FAM5C_uc010pot.1_Missense_Mutation_p.L145R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	247						extracellular region		p.L247F(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATAGTCTGGGAGAAGTACTTG	0.328000														32			12		0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49425443	49425443	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:49425443G>A	uc003ozg.4	-	2	979	c.714C>T	c.(712-714)tcC>tcT	p.S238S		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	238					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAATTTTCATGGATGGTTCTG	0.313000														46			12		0	0	1	0	0
C15orf23	90417	broad.mit.edu	37	15	40675068	40675068	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr15:40675068G>A	uc001zll.3	+	0	147	c.32G>A	c.(31-33)aGa>aAa	p.R11K	C15orf23_uc001zlo.3_Missense_Mutation_p.R11K|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.R11K	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	11						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CCCCTGGACAGAGTTTTCCGT	0.592000														29			4		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127325638	127325638	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:127325638C>T	uc003ejp.3	+	5	1136	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	MCM2_uc011bkm.2_Missense_Mutation_p.P230L|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.P244L	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	360					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCGGCCGGCCCCTTTGAGGTC	0.582000														71			7		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152419208	152419208	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:152419208G>A	uc021vrb.1	-	90	13734	c.13705C>T	c.(13705-13707)Cga>Tga	p.R4569*	NEB_uc002txr.3_Nonsense_Mutation_p.R1035*|NEB_uc002txu.3_Nonsense_Mutation_p.R6270*|NEB_uc021vrc.1_Nonsense_Mutation_p.R6270*|NEB_uc010fnx.3_Nonsense_Mutation_p.R4557*|NEB_uc021vrd.1_Nonsense_Mutation_p.R4569*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4569					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAATAGTGTCGATACTCCAGG	0.463000														21			4		0	0	1	0	0
DOLPP1	57171	broad.mit.edu	37	9	131847367	131847367	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr9:131847367G>A	uc004bxc.3	+	2	271	c.243G>A	c.(241-243)caG>caA	p.Q81Q	DOLPP1_uc004bxd.3_Silent_p.Q81Q|DOLPP1_uc004bxe.3_Intron	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA.	81					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						ACGTCATCCAGGAGCCACGGC	0.642000														45			9		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128842438	128842438	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:128842438G>A	uc009zcp.3	-	20	3921	c.3921C>T	c.(3919-3921)ccC>ccT	p.P1307P	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Silent_p.P266P|ARHGAP32_uc001qez.3_Silent_p.P958P	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1307	Poly-Pro.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AAGGCGGAGGGGGAAGGGGAC	0.542000														108			25		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065889	23065889	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr20:23065889C>T	uc002wsv.3	-	0	1089	c.941G>A	c.(940-942)gGg>gAg	p.G314E		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	314	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACGTGGCCCCCCCACGACA	0.642000														70			25		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21329737	21329737	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:21329737C>T	uc001req.4	+	4	491	c.387C>T	c.(385-387)atC>atT	p.I129I		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	129					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AAACTAATATCAATTCATCAG	0.299000														74			5		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919931	4919931	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:4919931G>A	uc001qng.3	+	0	1590	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	KCNA6_uc021qtr.1_Missense_Mutation_p.E242K	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	242						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CACCCCTGGGGAAATGGGGAC	0.557000										HNSCC(72;0.22)				126			27		0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233785062	233785062	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:233785062C>T	uc002vts.2	-	4	1008	c.760G>A	c.(760-762)Gat>Aat	p.D254N	NGEF_uc010fyg.1_Missense_Mutation_p.D162N|NGEF_uc002vtt.2_Missense_Mutation_p.D162N	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	254	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TCGGGAAGATCCTGCCAGAGG	0.637000														62			13		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32136849	32136849	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:32136849A>G	uc001rks.3	+	3	3374	c.2960A>G	c.(2959-2961)gAa>gGa	p.E987G		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	987										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AACAATCTTGAAACAAACAGA	0.378000														59			22		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12460320	12460320	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:12460320C>T	uc001atv.3	+	60	11858	c.11717C>T	c.(11716-11718)aCc>aTc	p.T3906I	VPS13D_uc001atw.3_Missense_Mutation_p.T3881I|VPS13D_uc001atx.3_Missense_Mutation_p.T3093I|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3905					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTCATCGAGACCGGCCCAGCT	0.552000														49			12		0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428827	120428827	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:120428827C>A	uc003vjk.3	-	7	1111	c.737G>T	c.(736-738)tGg>tTg	p.W246L	TSPAN12_uc010lkj.3_Missense_Mutation_p.W119L	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	246					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					ATACAGAGCCCAGAGCAGAGT	0.478000														118			7		0.0293803	0.0294633	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55144048	55144048	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:55144048C>T	uc002qgj.3	+	6	1135	c.795C>T	c.(793-795)ttC>ttT	p.F265F	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.F265F|LILRB1_uc002qgk.3_Silent_p.F265F|LILRB1_uc002qgm.3_Silent_p.F265F|LILRB1_uc010erq.3_Silent_p.F265F|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	265	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AACGTGACTTCCTTCAGCTCG	0.612000										HNSCC(37;0.09)				101			12		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92268634	92268634	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr14:92268634G>A	uc001xzu.4	-	3	624	c.433C>T	c.(433-435)Cct>Tct	p.P145S	TC2N_uc001xzt.4_Missense_Mutation_p.P145S|TC2N_uc010auc.3_Missense_Mutation_p.P145S|TC2N_uc001xzv.4_Missense_Mutation_p.P145S	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	145						nucleus		p.P145L(1)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GAACGGGGAGGAAAGCGTCGA	0.408000														65			21		0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77053728	77053728	+	Silent	SNP	T	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:77053728T>C	uc003hjs.3	-	5	983	c.855A>G	c.(853-855)agA>agG	p.R285R	NUP54_uc010ije.3_Silent_p.R3R|NUP54_uc011cbs.2_Silent_p.R105R|NUP54_uc011cbt.2_Silent_p.R237R|NUP54_uc003hjt.3_Silent_p.R105R	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	285	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AAAGTTCTGTTCTAGTCATAG	0.373000														191			8		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971153	21971153	+	Nonsense_Mutation	SNP	C	A	A	rs121913383		TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr9:21971153C>A	uc003zpk.3	-	1	511	c.205G>T	c.(205-207)Gag>Tag	p.E69*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.E69*|CDKN2A_uc003zpl.3_Missense_Mutation_p.G83V	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	69			E -> G (found in some patients with melanoma; partial loss of CDK4 binding).|E -> K (in a bladder tumor).|E -> V (in a lung tumor).|Missing (in melanoma; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E69*(32)|p.A68T(5)|p.A68V(3)|p.E69V(3)|p.A68A(2)|p.E69K(2)|p.E69Q(2)|p.L64_E69>Q(2)|p.A68fs*3(2)|p.E69fs*51(2)|p.E69fs*77(2)|p.E61fs*49(2)|p.E61_L94del(2)|p.A68E(1)|p.(G67_A68)fs(1)|p.V59fs*45(1)|p.E61fs*50(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.0(1)|p.A68fs*51(1)|p.L63fs*75(1)|p.A68fs*78(1)|p.R122fs*49(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGTTGGGCTCCGCGCCGTGG	0.711000	E69*(A375_SKIN)|E69*(CAL27_UPPER_AERODIGESTIVE_TRACT)|E69*(NCIH1975_LUNG)|E69*(SUIT2_PANCREAS)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				16			3		0.00909568	0.0091732	1	1	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143493	61143493	+	RNA	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr20:61143493G>A	uc021wfy.1	-	0		c.390C>T			C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		CGAATCCACGGCTGTGGCGGG	0.652000														44			15		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100264207	100264207	+	RNA	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:100264207G>A	uc021xqi.1	-	5		c.658C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TAGACCCTGGGGTGACCTATG	0.428000														182			29		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16701577	16701577	+	RNA	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:16701577C>T	uc010cpj.1	+	17		c.4108C>T			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		TAAGTGATTTCAGTTTGTAAA	0.348000														71			6		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31920444	31920444	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:31920444C>T	uc003tcm.2	-	2	619	c.158G>A	c.(157-159)aGa>aAa	p.R53K	PDE1C_uc003tcn.1_Missense_Mutation_p.R53K|PDE1C_uc003tco.2_Missense_Mutation_p.R113K|PDE1C_uc003tcr.3_Missense_Mutation_p.R53K|PDE1C_uc003tcs.3_Missense_Mutation_p.R53K	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	53					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTTCCCCTCTCTCTAATTG	0.328000														111			25		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660781	90660781	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:90660781C>T	uc011eab.2	-	6	1918	c.1044G>A	c.(1042-1044)acG>acA	p.T348T	BACH2_uc003pnw.3_Silent_p.T348T|BACH2_uc010kch.3_Silent_p.T348T	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	348						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCACACTTTTCGTTATGCTGA	0.617000														52			15		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56603051	56603051	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:56603051C>T	uc002rzn.3	+	4	2055	c.1553C>T	c.(1552-1554)cCt>cTt	p.P518L	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	518										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGCCTGAACCTGTGGTACAT	0.493000														32			3		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004506	41004506	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:41004506C>T	uc003jmj.4	-	36	4626	c.4136G>A	c.(4135-4137)cGa>cAa	p.R1379Q	HEATR7B2_uc003jmi.4_Missense_Mutation_p.R934Q	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1379							binding			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						GCTCACGTCTCGGTCTGTCAG	0.463000														112			23		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746354	37746354	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr9:37746354T>C	uc004aag.1	+	15	4369	c.4325T>C	c.(4324-4326)gTt>gCt	p.V1442A	FRMPD1_uc004aah.1_Missense_Mutation_p.V1442A	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1442						cytoskeleton|cytosol|plasma membrane		p.G1441E(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCCTGGGGGGTTGGAAACAAA	0.567000														18			10		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26636642	26636642	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:26636642G>A	uc001rhg.3	-	41	6418	c.6001C>T	c.(6001-6003)Cat>Tat	p.H2001Y	ITPR2_uc009zjg.1_Missense_Mutation_p.H152Y	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2001					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGATTTTCATGGCAAGGGCCC	0.463000														85			13		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3833720	3833720	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:3833720G>A	uc002fwy.2	-	17	2792	c.2619C>T	c.(2617-2619)ttC>ttT	p.F873F	ATP2A3_uc010ckn.2_5'UTR|ATP2A3_uc002fwz.2_Silent_p.F873F|ATP2A3_uc002fxa.2_Silent_p.F873F|ATP2A3_uc002fxb.2_Silent_p.F873F|ATP2A3_uc002fxc.2_Silent_p.F873F|ATP2A3_uc002fxd.2_Silent_p.F873F|ATP2A3_uc002fwx.2_Silent_p.F873F	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	873					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGCACTTCAGGAAGTTCCTCT	0.642000														22			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166954	140166954	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:140166954G>A	uc003lhb.2	+	0	1079	c.1079G>A	c.(1078-1080)aGa>aAa	p.R360K	PCDHAC2_uc003lha.2_Missense_Mutation_p.R360K|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R360K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	375	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCTATCAGAGAGGACGCT	0.517000														71			22		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974549	16974549	+	RNA	SNP	C	G	G			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:16974549C>G	uc009vow.2	+	4		c.1359C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGGCTGAGTGCAGCGCCTGCT	0.692000														58			4		0	0	1	0	0
BROX	148362	broad.mit.edu	37	1	222906053	222906053	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:222906053C>T	uc001hnq.1	+	12	1628	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	BROX_uc010put.1_Silent_p.S379S|BROX_uc010puu.1_3'UTR|BROX_uc010puv.1_Silent_p.S379S|AK094916_uc001hnr.1_Intron|AK025140_uc001hns.1_5'Flank	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Homo sapiens BRO1 domain and CAAX motif containing (BROX), mRNA.	411						membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						GCTACATCTCCTAAAATACAA	0.363000														19			6		0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24669225	24669226	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:24669225_24669226CC>TT	uc021oiw.1	+	9	1478_1479	c.1248_1249CC>TT	c.(1246-1251)ttccgg>ttTTgg	p.R417W	GRHL3_uc001bix.3_Missense_Mutation_p.R417W|GRHL3_uc021oix.1_Missense_Mutation_p.R371W|GRHL3_uc001biy.3_Missense_Mutation_p.R422W|GRHL3_uc001biz.3_Missense_Mutation_p.R324W	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	417					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GGAAGCAGTTCCGGAGGAAGGT	0.624000														107			21		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29679304	29679304	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:29679304C>T	uc002hgg.3	+	50	7870	c.7487C>T	c.(7486-7488)tCt>tTt	p.S2496F	NF1_uc002hgh.3_Missense_Mutation_p.S2475F|NF1_uc010cso.3_Missense_Mutation_p.S684F|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2496					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCATGGTCCTCTCCCAAAGGT	0.478000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				57			4		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:189587118C>T	uc003fry.2	+	8	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_uc003frx.2_Missense_Mutation_p.R379C|TP63_uc003frz.2_Missense_Mutation_p.R379C|TP63_uc010hzc.1_Missense_Mutation_p.R379C|TP63_uc003fsa.2_Missense_Mutation_p.R285C|TP63_uc003fsb.2_Missense_Mutation_p.R285C|TP63_uc003fsc.2_Missense_Mutation_p.R285C|TP63_uc003fsd.2_Missense_Mutation_p.R285C|TP63_uc021xir.1_Missense_Mutation_p.R285C|TP63_uc010hzd.1_Missense_Mutation_p.R200C|TP63_uc003fse.1_Missense_Mutation_p.R256C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	379	Interaction with HIPK2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R379C(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCAGCGTTTCGTCAGAACAC	0.363000										HNSCC(45;0.13)				38			8		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17279757	17279757	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:17279757G>A	uc010hev.3	-	17	1750	c.1486C>T	c.(1486-1488)Cct>Tct	p.P496S	TBC1D5_uc010heu.3_Missense_Mutation_p.P83S|TBC1D5_uc003cbf.3_Missense_Mutation_p.P496S|TBC1D5_uc003cbe.3_Missense_Mutation_p.P496S|TBC1D5_uc010hew.1_Missense_Mutation_p.P448S	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	496						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GTCCTGGTAGGAATTACAACA	0.512000														37			4		0	0	1	0	0
FLJ00278	0	broad.mit.edu	37	15	30848312	30848312	+	RNA	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr15:30848312G>A	uc010azq.2	-	0		c.299C>T								Homo sapiens mRNA for FLJ00278 protein.																		CCAGCCTGGGGAAGAAGGCTC	0.602000														30			4		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856286	62856286	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:62856286C>T	uc002jey.2	-	10	4594	c.3978G>A	c.(3976-3978)aaG>aaA	p.K1326K	LRRC37A3_uc010wqg.1_Silent_p.K444K|LRRC37A3_uc002jex.1_Silent_p.K303K|LRRC37A3_uc010wqf.1_Silent_p.K364K|LRRC37A3_uc010dek.1_Silent_p.K332K|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1326						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTTTCTGACCTTTGGACTCT	0.448000														224			37		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30625816	30625816	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr10:30625816G>A	uc001iva.4	-	3	759	c.696C>T	c.(694-696)tcC>tcT	p.S232S	MTPAP_uc001ivb.4_Silent_p.S362S	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	232					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGTTGACTGAGGAGCCAAAGG	0.438000														190			55		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516581	27516581	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr8:27516581C>T	uc003xga.1	+	4	1035	c.894C>T	c.(892-894)caC>caT	p.H298H	SCARA3_uc003xgb.1_Silent_p.H298H	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	298					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AGAGCATGCACGACCTGGTAC	0.567000														61			4		0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127541130	127541130	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr10:127541130G>A	uc001ljf.1	-	4	1665	c.1174C>T	c.(1174-1176)Ctt>Ttt	p.L392F	BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Missense_Mutation_p.L16F|DHX32_uc001ljg.1_Missense_Mutation_p.L392F|DHX32_uc009yam.1_Missense_Mutation_p.L147F	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	392						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATGAGCCAAGAATCTGCTTG	0.443000														61			16		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569295	55569295	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr10:55569295C>T	uc021pqv.1	-	34	4593	c.4565G>A	c.(4564-4566)aGa>aAa	p.R1522K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqw.1_Silent_p.K1508K|PCDH15_uc010qht.2_Silent_p.K1503K|PCDH15_uc021pqx.1_Missense_Mutation_p.R1520K	NM_001142770	NP_001136242	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant J, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTAATTTTCTTTGGCTCTT	0.403000										HNSCC(58;0.16)				136			14		0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246099	145246099	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:145246099C>T	uc003lns.1	-	1	529	c.529G>A	c.(529-531)Gca>Aca	p.A177T		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	177										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GTGCTTTCTGCCTCCACCAAA	0.527000														113			10		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236889312	236889312	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:236889312C>T	uc001hyf.2	+	4	732	c.528C>T	c.(526-528)ttC>ttT	p.F176F	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.F176F	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	176	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTCAGAACTTCCATACTAGGT	0.473000														77			22		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109268613	109268613	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:109268613C>T	uc001dvx.3	+	5	1098	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	FNDC7_uc010ova.2_Silent_p.F133F	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	367	Fibronectin type-III 4.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GTGACATATTCAATTATACCA	0.393000														115			23		0	0	1	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524565	73524565	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:73524565G>C	uc004ebs.4	+	0	541	c.464G>C	c.(463-465)cGg>cCg	p.R155P		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.	155							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						CTACCGCTGCGGCAAATCCCG	0.532000														47			4		0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263749	144263749	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:144263749C>T	uc003qjv.3	-	2	1470	c.204G>A	c.(202-204)gaG>gaA	p.E68E	PLAGL1_uc003qjx.3_Silent_p.E68E|PLAGL1_uc003qjy.3_Silent_p.E68E|PLAGL1_uc010khl.3_Silent_p.E68E|PLAGL1_uc010khm.3_Silent_p.E68E|PLAGL1_uc003qjz.3_Silent_p.E68E|PLAGL1_uc003qka.3_Silent_p.E68E|PLAGL1_uc003qkb.3_Silent_p.E16E|PLAGL1_uc003qkc.3_Silent_p.E68E|PLAGL1_uc003qkd.3_Silent_p.E16E|PLAGL1_uc003qke.3_Silent_p.E68E|PLAGL1_uc003qkf.3_Silent_p.E68E|PLAGL1_uc003qkg.3_Silent_p.E16E|PLAGL1_uc003qkh.3_Silent_p.E68E|PLAGL1_uc003qki.3_Silent_p.E16E|PLAGL1_uc003qkj.3_Silent_p.E68E|PLAGL1_uc003qkk.3_Silent_p.E16E|PLAGL1_uc003qkl.3_Silent_p.E16E|PLAGL1_uc003qkm.3_Silent_p.E68E|PLAGL1_uc010khn.3_Silent_p.E68E|PLAGL1_uc003qkn.3_Silent_p.E16E|PLAGL1_uc003qko.3_Silent_p.E68E|PLAGL1_uc003qkp.3_Silent_p.E16E|PLAGL1_uc003qjw.3_Silent_p.E16E|PLAGL1_uc021zgj.1_Silent_p.E16E	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	68					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		TGAACGTCTTCTCACAGTGAG	0.483000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			12		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25256967	25256967	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:25256967C>T	uc001rgh.3	+	17	2115	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	LRMP_uc010sja.2_Nonsense_Mutation_p.R341*|LRMP_uc010sjc.2_Nonsense_Mutation_p.R341*|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Nonsense_Mutation_p.R288*|LRMP_uc010sjd.2_Nonsense_Mutation_p.R288*	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	397					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AAATAATGATCGATTCAGTAG	0.313000														47			9		0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1387781	1387781	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:1387781C>T	uc001aft.2	+	2	1184	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	63							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GATTCCGTGCCTTTGTGACAG	0.587000														80			16		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90346958	90346958	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr15:90346958G>A	uc002bop.4	-	7	1649	c.1357C>T	c.(1357-1359)Cac>Tac	p.H453Y		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	453	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GACAGCGGGTGGGAGGAGGCC	0.612000														54			9		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133783544	133783544	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:133783544C>T	uc011ecs.2	+	7	825	c.509C>T	c.(508-510)tCg>tTg	p.S170L	EYA4_uc011ecq.2_Missense_Mutation_p.S116L|EYA4_uc011ecr.2_Missense_Mutation_p.S116L|EYA4_uc003qec.4_Missense_Mutation_p.S170L|EYA4_uc003qed.4_Missense_Mutation_p.S170L|EYA4_uc003qee.4_Missense_Mutation_p.S147L|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	170					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACTCAGTATTCGGGGATGCAG	0.473000														96			25		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94669546	94669546	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:94669546C>T	uc001dqj.4	-	7	1071	c.702G>A	c.(700-702)ttG>ttA	p.L234L	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Silent_p.L234L	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	234					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TAGTGGACTCCAATTCTGAAA	0.348000														33			3		0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107392016	107392016	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:107392016A>G	uc003prs.2	-	4	1029	c.379T>C	c.(379-381)Tac>Cac	p.Y127H		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	127										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGCTTCTTGTAGGAAGGGGTG	0.587000														74			20		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110462842	110462842	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:110462842G>A	uc001pkz.1	-	10	1287	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	ARHGAP20_uc001pky.1_Silent_p.I311I|ARHGAP20_uc009yyb.1_Silent_p.I298I|ARHGAP20_uc001pla.1_Silent_p.I298I|ARHGAP20_uc001plb.2_5'Flank	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	334					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.I334I(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCCAGTTTATGATAGATCTTC	0.403000														108			28		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32356877	32356877	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr13:32356877G>A	uc001utt.3	+	10	993	c.922G>A	c.(922-924)Gga>Aga	p.G308R	RXFP2_uc010aba.3_Intron	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	308						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAAAAATTTAGGAGAACTGTA	0.363000														35			5		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196920077	196920077	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:196920077G>A	uc001gtq.1	+	2	426	c.349G>A	c.(349-351)Gga>Aga	p.G117R	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	117	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TTGCAACACAGGATACAGACT	0.403000														64			12		0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22231043	22231043	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:22231043G>A	uc004dah.3	+	15	1871	c.1668G>A	c.(1666-1668)caG>caA	p.Q556Q	PHEX_uc011mjr.2_Silent_p.Q556Q|PHEX_uc011mjs.2_Silent_p.Q459Q	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	556					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GAGAGCTCCAGAAGCCTTTCT	0.398000														102			15		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597709	36597709	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:36597709G>T	uc021qgb.1	+	0	2855	c.2855G>T	c.(2854-2856)aGg>aTg	p.R952M	RAG1_uc001mwt.3_Intron|RAG1_uc001mwu.4_Missense_Mutation_p.R952M	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	952					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ATTATTGAGAGGGATGGCTCC	0.443000									Familial Hemophagocytic Lymphohistiocytosis					83			7		2.7689e-08	2.88258e-08	1	1	0
FAT2	2196	broad.mit.edu	37	5	150922250	150922250	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:150922250C>T	uc003lue.4	-	8	8451	c.8438G>A	c.(8437-8439)gGg>gAg	p.G2813E		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2813	Cadherin 25.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTGAGGTCCCCACTGGCAT	0.507000														89			19		0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95043142	95043142	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr9:95043142G>A	uc004art.1	-	6	888	c.631C>T	c.(631-633)Cct>Tct	p.P211S	IARS_uc004ars.1_Missense_Mutation_p.P56S|IARS_uc004aru.3_Missense_Mutation_p.P211S|IARS_uc010mqr.2_Missense_Mutation_p.P101S|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	211					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TCTTCCAAAGGGAAAGTTACA	0.363000														32			14		0	0	1	0	0
WBP5	51186	broad.mit.edu	37	X	102612729	102612729	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:102612729C>T	uc022cbr.1	+	0	117	c.117C>T	c.(115-117)gcC>gcT	p.A39A	WBP5_uc004eke.3_Silent_p.A39A|WBP5_uc004ekd.3_Silent_p.A39A|WBP5_uc004ekf.3_Silent_p.A39A|WBP5_uc004ekg.3_Silent_p.A39A	NM_016303	NP_057387	Q9UHQ7	WPB5_HUMAN	Homo sapiens WW domain binding protein 5 (WBP5), transcript variant 1, mRNA.	39	Glu-rich.							p.E38K(1)		breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						AGGAGGAGGCCAAAGCAAAAG	0.413000														70			27		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103488353	103488354	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:103488353_103488354GG>AA	uc001dum.3	-	7	1543_1544	c.1225_1226CC>TT	c.(1225-1227)cct>TTt	p.P409F	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.P397F|COL11A1_uc001dun.3_Missense_Mutation_p.P358F|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	397	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCTTCATTAGGGGGGCTTGTT	0.366000														73			8		0	0	1	0	0
C15orf24	56851	broad.mit.edu	37	15	34382552	34382552	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr15:34382552G>A	uc001zhm.3	-	2	474	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	154						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		CCAGCCCCACGATTCCCTTTT	0.388000														65			10		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983846	97983846	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:97983846A>C	uc003dsi.1	+	0	718	c.718A>C	c.(718-720)Aca>Cca	p.T240P		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TATCCTCTTTACAATCTTAGA	0.353000														34			13		0	0	1	0	0
SLC35B4	84912	broad.mit.edu	37	7	133986832	133986832	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:133986832G>A	uc003vrn.3	-	4	699	c.375C>T	c.(373-375)gcC>gcT	p.A125A	SLC35B4_uc010lmk.3_5'UTR|SLC35B4_uc003vro.4_Silent_p.A125A	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	Homo sapiens solute carrier family 35, member B4 (SLC35B4), mRNA.	125						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						CAGACACCAGGGCAATGGAGG	0.358000														65			39		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562715	32562715	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr14:32562715A>C	uc001wrl.3	+	1	3079	c.2840A>C	c.(2839-2841)aAt>aCt	p.N947T	ARHGAP5_uc001wrm.3_Missense_Mutation_p.N947T|ARHGAP5_uc001wrn.3_Missense_Mutation_p.N947T|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	947					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGATAGAAAATTCTTATTTG	0.328000														51			19		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139380210	139380210	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr8:139380210C>T	uc003yuy.3	-	1	188	c.17G>A	c.(16-18)gGa>gAa	p.G6E	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	6										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTCAACCGTTCCTTGTATTTC	0.373000										HNSCC(54;0.14)				71			12		0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78293697	78293697	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr13:78293697C>T	uc010thy.1	+	1	208	c.165C>T	c.(163-165)acC>acT	p.T55T	SLAIN1_uc001vkk.2_5'UTR	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	197										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AGACGTTCACCTCATCAGAGA	0.428000														60			14		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566278	136566278	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:136566278G>A	uc002tuu.1	-	7	3650	c.3639C>T	c.(3637-3639)atC>atT	p.I1213I		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1213	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.R1212I(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTGCTGCACGATTCTGGAGT	0.572000														142			17		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694431	109694431	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:109694431C>A	uc004eor.2	+	2	832	c.586C>A	c.(586-588)Cta>Ata	p.L196I	RGAG1_uc011msr.1_Missense_Mutation_p.L196I	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	196										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACCATTAATGCTAGCCCCAGA	0.483000														151			31		6.38683e-12	6.6686e-12	1	1	0
FAM153A	285596	broad.mit.edu	37	5	177163602	177163602	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:177163602C>T	uc010jkp.1	-	12	832	c.411G>A	c.(409-411)ggG>ggA	p.G137G	FAM153A_uc021yix.1_Intron|FAM153A_uc003mib.1_Non-coding_Transcript|FAM153A_uc003mic.3_Silent_p.G137G	NM_173663	NP_775934	Q9UHL3	F153A_HUMAN	Homo sapiens family with sequence similarity 153, member A (FAM153A), mRNA.	137				G -> E (in Ref. 3; BAF82207).						kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTCTGGGTCCCCCTCCATCT	0.423000														28			7		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32165333	32165333	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:32165333C>T	uc003obb.3	-	26	4934	c.4795G>A	c.(4795-4797)Gaa>Aaa	p.E1599K	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Missense_Mutation_p.E8K|NOTCH4_uc003oba.3_Missense_Mutation_p.E259K|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Missense_Mutation_p.E8K	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1599					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	p.E1599*(2)		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						GACTGTACTTCCCCACAGCAA	0.572000														42			4		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12941867	12941867	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:12941867G>A	uc001aun.2	-	2	754	c.683C>T	c.(682-684)cCa>cTa	p.P228L		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	228										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCAGGTATGGGGTAAACTG	0.488000														255			65		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121409694	121409694	+	Silent	SNP	A	G	G			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:121409694A>G	uc010hrc.3	-	13	8643	c.8517T>C	c.(8515-8517)ttT>ttC	p.F2839F	GOLGB1_uc003eei.4_Silent_p.F2834F|GOLGB1_uc003eej.4_Silent_p.F2800F|GOLGB1_uc021xcy.1_Silent_p.F2759F	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2834					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TAGCCTTGGAAAAGGACTGCA	0.458000														43			11		0	0	1	0	0
TMEM101	84336	broad.mit.edu	37	17	42092295	42092295	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:42092295C>T	uc002ieu.3	-	0	51	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	TMEM101_uc010wis.2_Intron	NM_032376	NP_115752	Q96IK0	TM101_HUMAN	Homo sapiens transmembrane protein 101 (TMEM101), mRNA.	9					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	p.R9L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAACATCCACCGTCTCGAACC	0.617000														78			11		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36083833	36083833	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:36083833G>A	uc004ddk.1	+	1	202	c.16G>A	c.(16-18)Gat>Aat	p.D6N		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	6						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						AATTCATCTGGATAAGCAAAA	0.333000														48			4		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36803	36803	+	RNA	SNP	G	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrGL000241.1:36803G>T	uc011mgv.2	-	0		c.73C>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CTTCTGCGCGGAGAGGCTGAA	0.592000														13			3		0.004672	0.00473874	1	1	0
GABRG2	2566	broad.mit.edu	37	5	161520910	161520910	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:161520910C>T	uc010jjc.3	+	1	542	c.184C>T	c.(184-186)Cct>Tct	p.P62S	GABRG2_uc003lyy.4_Missense_Mutation_p.P62S|GABRG2_uc003lyz.4_Missense_Mutation_p.P62S|GABRG2_uc011dej.2_5'UTR	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	62					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TCCAAAAGTTCCTGAGGGTGA	0.383000														102			15		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100129300	100129300	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr14:100129300C>T	uc010avs.3	+	5	1655	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	HHIPL1_uc001ygl.1_Silent_p.F530F	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	530					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CCTGTGAGTTCCCAGGCCTCA	0.587000														62			21		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9264781	9264781	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:9264781C>T	uc001qvk.1	-	3	570	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	A2M_uc009zgk.1_Missense_Mutation_p.E3K	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	153					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)	TGAAAGTTTTCATCCATGGAG	0.403000														50			8		0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43920569	43920569	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:43920569G>A	uc002owk.3	+	6	868	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	TEX101_uc010xwo.2_Missense_Mutation_p.G85R	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	85						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CATCCCGGAAGGGGAGGAGGC	0.532000														142			9		0	0	1	0	0
OSGIN2	734	broad.mit.edu	37	8	90937747	90937747	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr8:90937747A>T	uc003yeh.3	+	5	1897	c.1637A>T	c.(1636-1638)gAt>gTt	p.D546V	OSGIN2_uc003yeg.3_Missense_Mutation_p.D502V	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	502					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGAGGAGGAGATGGGATAGCT	0.373000														30			10		0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56860176	56860176	+	Splice_Site	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr8:56860176G>A	uc003xsk.4	+	4	461	c.179_splice	c.e4-1	p.D60_splice	LYN_uc003xsl.4_Splice_Site_p.D39_splice	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	60					T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TTCATCTTTAGATCCAGAGGA	0.468000														73			16		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4949237	4949237	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr16:4949237C>T	uc002cyd.1	-	6	845	c.755G>A	c.(754-756)cGg>cAg	p.R252Q		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	252					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ATACTGGCGCCGGCGGCTGGG	0.677000														55			4		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865840	57865840	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:57865840C>T	uc001snx.3	+	11	3411	c.3317C>T	c.(3316-3318)gCc>gTc	p.A1106V	GLI1_uc021qzi.1_Missense_Mutation_p.A1065V|GLI1_uc009zpq.3_Missense_Mutation_p.A978V	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	1106					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AACTCTAGTGCCTAAAGAGTA	0.512000														48			14		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178427117	178427117	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:178427117C>T	uc001glq.3	+	13	3454	c.2690C>T	c.(2689-2691)cCc>cTc	p.P897L	RASAL2_uc001glr.3_Missense_Mutation_p.P756L|RASAL2_uc009wxc.3_Missense_Mutation_p.P270L	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	756					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CAGAGCACTCCCCAAAGTGCA	0.567000														74			16		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74300977	74300977	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:74300977G>A	uc002jrd.1	-	1	262	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	QRICH2_uc010dgw.1_5'UTR	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	28							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AATTGCTCCCGATCTTTGAAT	0.537000														186			14		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008787	11008787	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:11008787C>T	uc010oao.2	-	11	1405	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	C1orf127_uc001ars.2_Missense_Mutation_p.E304K|C1orf127_uc001arr.2_Missense_Mutation_p.E312K	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	320										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ATCCCTGCTTCCCCTGGGGGA	0.647000														80			9		0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121416690	121416690	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr12:121416690G>A	uc001tzg.3	+	0	142	c.119G>A	c.(118-120)gGa>gAa	p.G40E	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.G40E|HNF1A_uc001tzf.3_Missense_Mutation_p.G40E|HNF1A_uc010szn.2_Missense_Mutation_p.G40E|HNF1A_uc021rfa.1_Missense_Mutation_p.G40E|HNF1A_uc021rfb.1_5'UTR|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	40					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Y36fs*107(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCCTGGCTGGAGAAGGCCCC	0.701000									Hepatic Adenoma, Familial Clustering of					29			3		0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17923826	17923826	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr20:17923826G>A	uc002wqc.3	-	11	1178	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Silent_p.F364F|SNX5_uc002wqe.3_Silent_p.F259F	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	364	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCTTCCGTTTGAAATTTATCA	0.323000														148			43		0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14625357	14625357	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:14625357G>A	uc010neq.3	+	5	1442	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	GLRA2_uc004cwe.4_Missense_Mutation_p.E228K|GLRA2_uc011mio.2_Missense_Mutation_p.E139K|GLRA2_uc010nep.3_Missense_Mutation_p.E228K|GLRA2_uc011mip.2_Missense_Mutation_p.E206K	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	228					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGAAGAGAAGGAACTTGGCTA	0.398000														102			26		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129571259	129571259	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:129571259C>T	uc021zfb.1	+	12	1890	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	LAMA2_uc003qbn.3_Silent_p.L595L|LAMA2_uc003qbo.3_Silent_p.L595L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	595	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTTGTAGCTCCCAGCAGTAG	0.373000														46			14		0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216095	149216095	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:149216095G>T	uc003lrc.3	+	7	2168	c.2077G>T	c.(2077-2079)Gac>Tac	p.D693Y	PPARGC1B_uc003lrb.2_Missense_Mutation_p.D693Y|PPARGC1B_uc003lrd.3_Missense_Mutation_p.D654Y|PPARGC1B_uc021yfr.1_Missense_Mutation_p.D629Y|PPARGC1B_uc003lre.1_Missense_Mutation_p.D672Y|PPARGC1B_uc003lrf.3_Missense_Mutation_p.D672Y	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	693					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGAGACCATGACTACTGCCA	0.632000														49			12		5.50884e-06	5.68499e-06	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	5811554	5811554	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:5811554C>T	uc010ndi.3	-	6	2330	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	NLGN4X_uc004crp.3_Silent_p.T605T|NLGN4X_uc010ndh.3_Silent_p.T585T|NLGN4X_uc004crq.3_Silent_p.T585T|NLGN4X_uc004crr.3_Silent_p.T585T|NLGN4X_uc010ndj.3_Silent_p.T585T	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	585					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.T585T(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGCCACTTTCGTTGCCCGGT	0.463000														165			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397570	179397570	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:179397570C>T	uc021vsy.1	-	306	96293	c.96068G>A	c.(96067-96069)cGa>cAa	p.R32023Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R25718Q|TTN_uc021vta.1_Missense_Mutation_p.R25651Q|TTN_uc021vtb.1_Missense_Mutation_p.R25526Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32950	Ig-like 142.						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)			GCGCTTGGGTCGTTTCTGTAC	0.448000														61			7		0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192818454	192818454	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:192818454C>T	uc002utc.3	-	8	1373	c.979G>A	c.(979-981)Gga>Aga	p.G327R		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	327						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TGAATTGTTCCAATCACAGCT	0.428000														46			11		0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444102	15444102	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:15444102G>A	uc003gno.3	+	2	829	c.570G>A	c.(568-570)ggG>ggA	p.G190G	C1QTNF7_uc011bxb.2_Silent_p.G183G|C1QTNF7_uc003gnp.3_Silent_p.G183G	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	183	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CTGCCACAGGGAAGTTCATCT	0.438000														220			54		0	0	1	0	0
SFRP5	6425	broad.mit.edu	37	10	99531173	99531173	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr10:99531173C>T	uc001kor.4	-	0	584	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN	Homo sapiens secreted frizzled-related protein 5 (SFRP5), mRNA.	140	FZ.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		CCGTAGGCCTCCATGAGCGGC	0.692000														23			4		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409481	130409481	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:130409481G>C	uc004ewe.4	-	15	3453	c.3170C>G	c.(3169-3171)cCt>cGt	p.P1057R	IGSF1_uc004ewd.3_Missense_Mutation_p.P1052R|IGSF1_uc022cdv.1_Missense_Mutation_p.P1043R|IGSF1_uc004ewf.2_Missense_Mutation_p.P1032R	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1052	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGTGTTGCTAGGTTGTATCTT	0.502000														128			15		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117607464	117607464	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr10:117607464C>T	uc001lcg.3	+	27	4366	c.3980C>T	c.(3979-3981)cCa>cTa	p.P1327L	ATRNL1_uc010qsm.2_Missense_Mutation_p.P456L|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1327						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTTTGTCTACCACGAGGATCA	0.473000														23			4		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107732858	107732858	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:107732858C>T	uc010ljo.1	-	12	1558	c.1474G>A	c.(1474-1476)Gga>Aga	p.G492R	LAMB4_uc003vey.2_Missense_Mutation_p.G492R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	492	Laminin EGF-like 4.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCCCAGTATCCAACCTACAGA	0.428000														35			17		0	0	1	0	0
LOC727896	727896	broad.mit.edu	37	18	2946178	2946178	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr18:2946178T>A	uc010wyu.2	-	0	444	c.357A>T	c.(355-357)ttA>ttT	p.L119F	LPIN2_uc002klo.3_Intron					Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 pseudogene (LOC727896), non-coding RNA.																		CAGATATTTTTAATTCCAAAT	0.348000														109			49		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929004	4929004	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:4929004C>T	uc010qyq.2	+	0	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTTCTATCCTCACTAGCA	0.378000														119			9		0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043825	77043825	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:77043825C>T	uc002jwt.3	+	2	877	c.795C>T	c.(793-795)ttC>ttT	p.F265F	C1QTNF1_uc002jwp.3_Silent_p.F167F|C1QTNF1_uc002jwq.3_Silent_p.F85F|C1QTNF1_uc002jwr.4_Silent_p.F177F|C1QTNF1_uc002jws.3_Silent_p.F167F	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	167	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CGGTGATCTTCGACACGGAGT	0.587000														129			19		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395223	154395223	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:154395223C>T	uc010jih.1	+	0	1964	c.1804C>T	c.(1804-1806)Ctc>Ttc	p.L602F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	602					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCACAAACTTCTCCAGGAGCT	0.448000														94			9		0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89805562	89805562	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr16:89805562C>T	uc002fou.1	-	40	4188	c.4146G>A	c.(4144-4146)agG>agA	p.R1382R	ZNF276_uc010ciq.3_3'UTR|ZNF276_uc002foq.4_3'UTR|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_3'UTR|ZNF276_uc010cis.3_3'UTR|ZNF276_uc002fos.4_3'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_3'UTR|FANCA_uc010vpn.1_Silent_p.R1382R	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	1382					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCTCCAGGCTCCTGCCAGCTG	0.612000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					41			8		0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489453	124489453	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:124489453C>T	uc001qah.3	+	3	801	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	267					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CATCACTGTCCATTTTCCAGA	0.468000														61			11		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87967994	87967995	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:87967994_87967995CC>TT	uc011ccz.2	+	3	582_583	c.307_308CC>TT	c.(307-309)cct>TTt	p.P103F	AFF1_uc011ccx.2_Missense_Mutation_p.P37F|AFF1_uc003hqh.2_Missense_Mutation_p.P103F|AFF1_uc011ccy.2_Missense_Mutation_p.P103F|AFF1_uc003hqj.4_Missense_Mutation_p.P96F|AFF1_uc003hqk.4_Missense_Mutation_p.P96F|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	96						nucleus	sequence-specific DNA binding transcription factor activity	p.P103S(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCTTTAATTCCTGACAAAGGG	0.465000														141			29		0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44130763	44130763	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:44130763C>T	uc001mya.3	+	2	711	c.655C>T	c.(655-657)Cac>Tac	p.H219Y	EXT2_uc010rfo.2_Missense_Mutation_p.H214Y|EXT2_uc009ykt.3_Missense_Mutation_p.H186Y|EXT2_uc001mxz.3_Missense_Mutation_p.H186Y	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	186					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						AGGTACGAATCACCTGTTGTT	0.438000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					47			13		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791256	41791256	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr8:41791256G>A	uc010lxb.3	-	17	5026	c.4482C>T	c.(4480-4482)gtC>gtT	p.V1494V	KAT6A_uc010lxc.3_Silent_p.V1494V|KAT6A_uc003xon.4_Silent_p.V1494V	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1494					histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding										TGACCGAACGGACTGACTGGC	0.562000														84			19		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91728141	91728141	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:91728141G>A	uc001doa.4	-	36	4082	c.3983C>T	c.(3982-3984)tCa>tTa	p.S1328L	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.S1007L|HFM1_uc001dob.4_Missense_Mutation_p.S516L	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1328							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTCATGTGATGAAACAAAACt	0.308000														58			16		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62045642	62045642	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:62045642G>A	uc002jds.1	-	5	854	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	259					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGCTCAGGCAGAAGACAGTGA	0.577000														110			14		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215823761	215823761	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:215823761G>A	uc002vew.3	-	39	6146	c.5926C>T	c.(5926-5928)Caa>Taa	p.Q1976*	ABCA12_uc002vev.3_Nonsense_Mutation_p.Q1658*|ABCA12_uc010zjn.2_Nonsense_Mutation_p.Q903*	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1976					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCTTGTTCTTGGTCTTGCACT	0.378000														136			15		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17083776	17083776	+	Missense_Mutation	SNP	C	A	A	rs56318124		TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:17083776C>A	uc010ock.2	-	14	2021	c.2021G>T	c.(2020-2022)cGt>cTt	p.R674L	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.R274L					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.R674L(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CACAGAGACACGCGTGAAGAC	0.537000														31			3		0.00198382	0.00202372	1	1	0
EP300	2033	broad.mit.edu	37	22	41556650	41556650	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr22:41556650C>T	uc003azl.4	+	19	3990	c.3595C>T	c.(3595-3597)Cat>Tat	p.H1199Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1199					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CGACAGGTATCATTTCTGTGA	0.493000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					28			10		0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46214641	46214641	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:46214641G>A	uc002ini.1	-	11	1149	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	SKAP1_uc002inj.1_Missense_Mutation_p.P345L|SKAP1_uc010dbd.1_Missense_Mutation_p.P251L|SKAP1_uc010dbe.1_Missense_Mutation_p.P346L	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	346	SH3.				T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATACTCCTTTGGAACAATCCC	0.443000														56			5		0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291917	22291917	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:22291917C>T	uc004dai.2	+	0	888	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	270	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CCAGCGGTATCGTCCCCTCAT	0.428000														229			24		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5960966	5960966	+	RNA	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:5960966C>T	uc003git.2	-	6		c.2265G>A						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AACACAAAATCCCAAAGCCGA	0.438000														28			5		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140508753	140508753	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:140508753T>C	uc003vwc.4	-	3	608	c.547A>G	c.(547-549)Aaa>Gaa	p.K183E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	183	RBD.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATCAGTGCTTTCTTTAGACTG	0.373000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					106			18		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1204808	1204808	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr2:1204808C>T	uc002qwq.3	+	8	740	c.611C>T	c.(610-612)tCg>tTg	p.S204L	SNTG2_uc010ewi.3_Missense_Mutation_p.S77L	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	204					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.S204S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TCACCTTCCTCGCCCATAGCT	0.582000														64			9		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56499245	56499245	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr19:56499245G>A	uc002qmh.3	+	9	3184	c.3113G>A	c.(3112-3114)gGa>gAa	p.G1038E	NLRP8_uc010etg.3_Missense_Mutation_p.G1019E	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	1038						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACTTCACGGGAAAAAGTGAC	0.512000														52			4		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133981769	133981769	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr8:133981769C>T	uc003ytw.3	+	31	5971	c.5930C>T	c.(5929-5931)tCc>tTc	p.S1977F	TG_uc010mdw.3_Missense_Mutation_p.S736F|TG_uc011ljb.2_Missense_Mutation_p.S346F|TG_uc011ljc.2_Missense_Mutation_p.S131F	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1977					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGGGGATATCCATTAGAAAT	0.348000														81			20		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64520837	64520837	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:64520837C>T	uc003jtp.3	-	16	2919	c.2105G>A	c.(2104-2106)aGg>aAg	p.R702K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.R323K	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	702					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCTATCTTCCCTAGCATCAGA	0.438000														51			6		0	0	1	0	0
EMID2	136227	broad.mit.edu	37	7	101183320	101183320	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr7:101183320G>A	uc010lhy.1	+	4	780	c.588G>A	c.(586-588)acG>acA	p.T196T	EMID2_uc003uyo.1_Silent_p.T198T	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	198						collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					GAAGGCCCACGGGCCCAGCCG	0.677000														23			7		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36849	36849	+	RNA	SNP	C	G	G			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrGL000241.1:36849C>G	uc011mgv.2	-	0		c.27G>C								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CGGAGCAGCACCAGGGCGGGG	0.577000														8			3		0	0	1	0	0
CWC25	54883	broad.mit.edu	37	17	36963033	36963033	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:36963033G>A	uc002hqu.3	-	6	1040	c.887C>T	c.(886-888)cCa>cTa	p.P296L	CWC25_uc010wdv.2_Missense_Mutation_p.P233L|CWC25_uc010wdw.1_Non-coding_Transcript|CWC25_uc010wdx.1_Non-coding_Transcript	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA.	296										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GCTGGGTCTTGGGGACCGTGA	0.577000														25			7		0	0	1	0	0
RHOV	171177	broad.mit.edu	37	15	41166143	41166143	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr15:41166143C>T	uc001znd.3	-	0	345	c.195G>A	c.(193-195)ctG>ctA	p.L65L		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	Homo sapiens ras homolog gene family, member V (RHOV), mRNA.	65					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AGAAGGTGTCCAGCGCAGTGG	0.711000														25			3		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364957	11364957	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr5:11364957G>A	uc003jfa.1	-	7	1368	c.1223C>T	c.(1222-1224)cCa>cTa	p.P408L	CTNND2_uc010itt.2_Missense_Mutation_p.P317L|CTNND2_uc011cmy.1_Missense_Mutation_p.P71L|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	408					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCGCAACTCTGGGCCCAGGTG	0.557000														55			9		0	0	1	0	0
EDNRA	1909	broad.mit.edu	37	4	148463699	148463699	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:148463699A>G	uc003iky.3	+	7	1743	c.1213A>G	c.(1213-1215)Atc>Gtc	p.I405V	EDNRA_uc011cid.2_Missense_Mutation_p.I180V|EDNRA_uc010ipg.2_Missense_Mutation_p.I296V|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	405					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CGGAACAAGCATCCAGTGGAA	0.532000														81			11		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43437838	43437838	+	Silent	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr18:43437838C>T	uc002lbm.3	-	41	7522	c.7422G>A	c.(7420-7422)cgG>cgA	p.R2474R	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Silent_p.R1028R|EPG5_uc002lbn.2_Silent_p.R1349R	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2474					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGGCGACTTCCGGCCAAACC	0.488000														82			12		0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	489971	489971	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr11:489971C>T	uc001lpj.3	+	10	1380	c.1204C>T	c.(1204-1206)Cac>Tac	p.H402Y		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA.	402						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GTACGACCCCCACACGCTCAC	0.677000														16			3		0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135644312	135644312	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr6:135644312C>T	uc003qgi.3	-	24	3700	c.3316G>A	c.(3316-3318)Gtg>Atg	p.V1106M	AHI1_uc003qgf.3_Non-coding_Transcript|AHI1_uc003qgg.3_Missense_Mutation_p.V556M|AHI1_uc003qgh.3_Missense_Mutation_p.V1106M|AHI1_uc003qgj.3_Missense_Mutation_p.V1106M|AHI1_uc003qgk.4_Intron	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	1106	SH3.					adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCACTAGCCACATGATTAGCT	0.383000														19			9		0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615483	100615483	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr14:100615483G>A	uc001ygx.2	-	1	735	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	216					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCCCAGGAAGGAGCTGGCCAG	0.647000														76			31		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166946521	166946521	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr4:166946521C>T	uc003irh.2	+	8	1743	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	TLL1_uc021xud.1_Missense_Mutation_p.P366S|TLL1_uc011cjn.2_Missense_Mutation_p.P366S|TLL1_uc011cjo.2_Missense_Mutation_p.P190S	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	366	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCCAGGATTTCCCAATGGCTA	0.383000														76			6		0	0	1	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246735	43246735	+	RNA	SNP	C	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:43246735C>A	uc002iik.1	-	1		c.1485G>T			HEXIM2_uc002iih.1_Silent_p.P140P|HEXIM2_uc010daf.1_Silent_p.P162P|HEXIM2_uc002iii.1_Silent_p.P140P|HEXIM2_uc002iij.1_Silent_p.P140P			Q96MH2	HEXI2_HUMAN	Homo sapiens cDNA FLJ39466 fis, clone PROST2012353.						negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						CCGTGGCCCCCTACAACACCA	0.627000														46			10		1.58986e-06	1.64549e-06	1	1	0
SRCIN1	80725	broad.mit.edu	37	17	36705365	36705365	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:36705365G>A	uc002hqd.3	-	15	3269	c.3044C>T	c.(3043-3045)tCc>tTc	p.S1015F	SRCIN1_uc002hqf.1_Missense_Mutation_p.S887F|SRCIN1_uc002hqe.2_Missense_Mutation_p.S869F	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	887					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCCATGGGAGGAGGGGAAGCT	0.652000														19			5		0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32560584	32560584	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr10:32560584C>T	uc001iwg.1	-	13	2606	c.2336G>A	c.(2335-2337)aGg>aAg	p.R779K	EPC1_uc001iwi.3_Missense_Mutation_p.R706K|EPC1_uc001iwh.1_Missense_Mutation_p.R756K	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	779					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ACTTAAAGTCCTAGGTATATG	0.438000														167			7		0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57494906	57494906	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:57494906G>C	uc003dit.2	-	5	684	c.503C>G	c.(502-504)tCg>tGg	p.S168W	DNAH12_uc003diu.2_Missense_Mutation_p.S168W	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	168	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ATCTTCAAGCGATTTAACTGG	0.308000														73			18		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21014160	21014160	+	Silent	SNP	G	A	A			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:21014160G>A	uc001bdr.4	-	7	1777	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Silent_p.F553F	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	553					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CAGGCCCAGGGAAAGCCTCGG	0.602000														40			17		0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55505553	55505555	+	In_Frame_Del	DEL	CTG	-	-	rs67610340		TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr1:55505553_55505555delCTG	uc001cyf.2	+	0	405_407	c.43_45delCTG	c.(43-45)ctgdel	p.L23del	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_5'Flank	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						gccgctgccactgctgctgctgc	0.709													---	3	---	---	3	---					
ZBTB47	92999	broad.mit.edu	37	3	42700747	42700749	+	In_Frame_Del	DEL	GGA	-	-			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr3:42700747_42700749delGGA	uc003clu.2	+	1	1181_1183	c.900_902delGGA	c.(898-903)cgggag>cgg	p.E307del		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	Homo sapiens zinc finger and BTB domain containing 47 (ZBTB47), mRNA.	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		gcagtggacgggaggaggaggag	0.626													---	4	---	---	2	---					
KLF6	1316	broad.mit.edu	37	10	3827192	3827194	+	In_Frame_Del	DEL	GGG	-	-			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr10:3827192_3827194delGGG	uc001iha.3	-	0	280_282	c.13_15delCCC	c.(13-15)cccdel	p.P5del	KLF6_uc010qaj.2_In_Frame_Del_p.P5del|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_In_Frame_Del_p.P5del|KLF6_uc001ihb.2_In_Frame_Del_p.P5del	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	5					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TGCTGCACATGGGGAGCACGTCC	0.690													---	45	---	---	7	---					
KRT28	162605	broad.mit.edu	37	17	38955735	38955738	+	Frame_Shift_Del	DEL	ATAG	-	-			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:38955735_38955738delATAG	uc002hvh.1	-	0	474_477	c.408_411delCTAT	c.(406-411)gactatfs	p.D136fs		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	136	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GATATCTGCTATAGTCATGATCAA	0.377													---	142	---	---	9	---					
TRIM37	4591	broad.mit.edu	37	17	57094671	57094672	+	Frame_Shift_Ins	INS	-	GACA	GACA			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr17:57094671_57094672insGACA	uc002iwy.4	-	19	2815_2816	c.2371_2372insTGTC	c.(2371-2373)cagfs	p.Q791fs	TRIM37_uc002iwz.4_Frame_Shift_Ins_p.Q791fs|TRIM37_uc002ixa.4_Frame_Shift_Ins_p.Q669fs|TRIM37_uc010woc.2_Frame_Shift_Ins_p.Q757fs	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	791						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGACAGAGTCTGACAGTCTCCC	0.426									Mulibrey Nanism				---	114	---	---	19	---					
FAM210A	125228	broad.mit.edu	37	18	13681830	13681833	+	Frame_Shift_Del	DEL	GGCG	-	-	rs116967198	by1000genomes	TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chr18:13681830_13681833delGGCG	uc010dlh.3	-	2	676_679	c.244_247delCGCC	c.(244-249)cgccatfs	p.R82fs	FAM210A_uc010dlg.3_Frame_Shift_Del_p.R82fs|FAM210A_uc010dli.3_Frame_Shift_Del_p.R82fs|FAM210A_uc002ksj.4_Frame_Shift_Del_p.R82fs|FAM210A_uc010dlj.3_Intron	NM_001098801	NP_689565	Q96ND0	CR019_HUMAN	Homo sapiens family with sequence similarity 210, member A (FAM210A), transcript variant 1, mRNA.	82			R -> H (in a breast cancer sample; somatic mutation).			integral to membrane		p.R82H(2)									CCTTGCTTATGGCGAAGGACTCCT	0.490													---	172	---	---	9	---					
FAM47B	170062	broad.mit.edu	37	X	34962818	34962818	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GF-A4EO-06A-12D-A24R-08	TCGA-GF-A4EO-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62	ae4873d6-5303-4910-b84f-61b6d1be185d	g.chrX:34962818delC	uc004ddi.2	+	0	1906	c.1870delC	c.(1870-1872)cctfs	p.P624fs		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	624								p.P624A(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTTAAGACTCCTATTCAACG	0.398													---	217	---	---	11	---					
