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
OR4K17	390436	broad.mit.edu	37	14	20586099	20586099	+	Silent	SNP	C	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr14:20586099C>A	uc001vwo.1	+	0	534	c.534C>A	c.(532-534)acC>acA	p.T178T		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTGTAGTGACCTCATGGCTCT	0.453000														53			20		2.4624e-09	5.03986e-09	0.008871	1	0
ATP1A3	478	broad.mit.edu	37	19	42485697	42485697	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:42485697T>C	uc002osh.3	-	10	1548	c.1394A>G	c.(1393-1395)aAg>aGg	p.K465R	ATP1A3_uc010xwf.2_Missense_Mutation_p.K476R|ATP1A3_uc010xwg.2_Missense_Mutation_p.K435R|ATP1A3_uc002osg.3_Missense_Mutation_p.K465R|ATP1A3_uc010xwh.2_Missense_Mutation_p.K478R			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	465					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCCACTTTCTTGTTGCGTTC	0.557000														75			15		0	0	0.004007	0	0
PRPF40A	55660	broad.mit.edu	37	2	153526811	153526811	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:153526811T>A	uc002tyh.4	-	14	1586	c.1564A>T	c.(1564-1566)Act>Tct	p.T522S	PRPF40A_uc002tyg.4_5'Flank|PRPF40A_uc010zcd.1_Missense_Mutation_p.T469S	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	549					RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCAGACCAAGTGGTAGAGTAT	0.368000														31			6		0	0	0.001168	0	0
IARS2	55699	broad.mit.edu	37	1	220315224	220315224	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:220315224C>T	uc001hmc.3	+	19	2598	c.2494C>T	c.(2494-2496)Cgt>Tgt	p.R832C		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	832					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTAATAGTTCGTTCTTTTGC	0.378000														110			54		0	0	0.014410	0	0
KCNG1	3755	broad.mit.edu	37	20	49620833	49620833	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr20:49620833C>T	uc002xwa.4	-	2	1580	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	429						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGACCATGTCGCCATAGCCC	0.627000														93			16		0	0	0.004990	0	0
TCRA	0	broad.mit.edu	37	14	22891797	22891797	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr14:22891797C>T	uc001wdv.4	+	1	174	c.109C>T	c.(109-111)Cct>Tct	p.P37S	TCRA_uc001wbw.2_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_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|AK125397_uc001wdt.1_Intron|TCRA_uc001wdu.2_Missense_Mutation_p.P37S					SubName: Full=TRA@ protein;																		AATAGGGGTCCCTGCCACCCT	0.502000														65			6		0	0	0.001168	0	0
ZNF367	195828	broad.mit.edu	37	9	99150590	99150590	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr9:99150590G>A	uc004awf.3	-	4	1337	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W		NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	Homo sapiens zinc finger protein 367 (ZNF367), mRNA.	328					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				AGGCGCTCCCGCTGCTCCTGC	0.602000														58			9		0	0	0.004482	0	0
ZNF317	57693	broad.mit.edu	37	19	9271505	9271505	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:9271505G>T	uc002mku.3	+	6	1489	c.1184G>T	c.(1183-1185)tGc>tTc	p.C395F	ZNF317_uc002mkv.3_Missense_Mutation_p.C254F|ZNF317_uc002mkw.3_Missense_Mutation_p.C363F|ZNF317_uc002mkx.3_Missense_Mutation_p.C310F|ZNF317_uc002mky.3_Missense_Mutation_p.C278F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TGTAAAGAATGCGGGAAATCC	0.517000														41			4		2.56e-06	5.09673e-06	0.009096	1	0
SERPIND1	3053	broad.mit.edu	37	22	21134155	21134155	+	Silent	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr22:21134155C>T	uc002ztc.2	+	0	642	c.639C>T	c.(637-639)gaC>gaT	p.D213D	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Silent_p.D185D	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	185					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ATTTTAAAGACTTTGTTAATG	0.443000														121			6		0	0	0.001168	0	0
PLD1	5337	broad.mit.edu	37	3	171455813	171455813	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr3:171455813T>C	uc003fhs.3	-	1	376	c.29A>G	c.(28-30)aAt>aGt	p.N10S	PLD1_uc003fht.3_Missense_Mutation_p.N10S	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	10					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGCAGAGGTATTTACCCGTGG	0.433000														29			17		0	0	0.007413	0	0
ZNF385C	201181	broad.mit.edu	37	17	40180231	40180231	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:40180231C>T	uc021txr.1	-	5	764	c.764G>A	c.(763-765)cGa>cAa	p.R255Q		NM_001242704	NP_001229633			Homo sapiens zinc finger protein 385C (ZNF385C), mRNA.											lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	3		all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126)				GGGAGCCCCTCGCTGACCTTC	0.706000														90			6		0	0	0.001168	0	0
UMOD	7369	broad.mit.edu	37	16	20348693	20348693	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr16:20348693G>A	uc002dhb.3	-	8	1888	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	UMOD_uc002dgz.3_Missense_Mutation_p.R554W|UMOD_uc002dha.3_Missense_Mutation_p.R554W	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	554	ZP.	Cleavage.			cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCAGCAAACCGGAACATCTGG	0.517000														50			12		0	0	0.010729	0	0
HOXA2	3199	broad.mit.edu	37	7	27140362	27140362	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr7:27140362G>A	uc003syh.3	-	1	1389	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	372						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TTCAGATGCTGCAAGTCGATT	0.403000														153			12		0	0	0.010729	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378867	31378867	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr7:31378867A>C	uc003tch.3	-	1	369	c.16T>G	c.(16-18)Ttt>Gtt	p.F6V	NEUROD6_uc022abi.1_Missense_Mutation_p.F6V	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	6					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GACTCATCAAACGGTAGTGTT	0.338000														260			9		0	0	0.006214	0	0
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	C	C	rs137871677	by1000genomes	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr20:29625905T>C	uc010ztl.1	+	1	91	c.59T>C	c.(58-60)cTt>cCt	p.L20P	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000														81			4		0	0	0.009096	0	0
TCP11	6954	broad.mit.edu	37	6	35108611	35108611	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:35108611G>T	uc003okd.2	-	1	257	c.76C>A	c.(76-78)Cct>Act	p.P26T	TCP11_uc003ojz.1_5'UTR|TCP11_uc003oka.2_5'UTR|TCP11_uc003okb.2_5'UTR|TCP11_uc011dsu.1_Missense_Mutation_p.P13T|TCP11_uc003okc.2_5'UTR|TCP11_uc011dsv.1_Intron|TCP11_uc011dsw.1_Intron	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	13					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GAGTCGCCAGGATATTTCGGG	0.622000														34			7		0.000157383	0.000299713	0.003080	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140712490	140712490	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:140712490C>T	uc003lji.2	+	0	2239	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGC5_uc011dan.2_Missense_Mutation_p.R747W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	757					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)			GGACGGGGTTCGGGCTTTCCT	0.627000														114			5		0	0	0.000602	0	0
GNAS	2778	broad.mit.edu	37	20	57415675	57415675	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr20:57415675G>A	uc021wfl.1	+	0	881	c.514G>A	c.(514-516)Gac>Aac	p.D172N	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Missense_Mutation_p.D172N|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGAAGCCCCGACGCCTCCCC	0.682000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				33			4		0	0	0.001168	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126128	31126128	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr7:31126128A>G	uc003tca.2	+	9	1089	c.800A>G	c.(799-801)tAc>tGc	p.Y267C	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.Y267C|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.Y267C|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.Y246C|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.Y267C|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	267					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AGATACTTCTACTGGTACACC	0.527000														60			28		0	0	0.006320	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125844474	125844474	+	Silent	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr3:125844474C>T	uc003eim.1	-	14	1975	c.1785G>A	c.(1783-1785)gtG>gtA	p.V595V	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.V494V	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	595	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CAGGCTTGATCACCACTGTGT	0.582000														71			5		0	0	0.001984	0	0
SYNE1	23345	broad.mit.edu	37	6	152772230	152772230	+	Silent	SNP	G	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:152772230G>T	uc021zhb.1	-	23	3361	c.3138C>A	c.(3136-3138)acC>acA	p.T1046T	SYNE1_uc003qot.4_Silent_p.T1053T|SYNE1_uc003qou.4_Silent_p.T1046T|SYNE1_uc010kjb.1_Silent_p.T1029T|SYNE1_uc003qow.3_Silent_p.T341T|SYNE1_uc003qox.1_Silent_p.T562T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1046					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.T1046I(1)|p.E1045D(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATCAGCTTGGTCTCTCGAT	0.463000										HNSCC(10;0.0054)				119			6		8.12818e-05	0.000156147	0.001984	1	0
ATRNL1	26033	broad.mit.edu	37	10	117059735	117059735	+	Silent	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr10:117059735C>T	uc001lcg.3	+	15	2993	c.2607C>T	c.(2605-2607)ggC>ggT	p.G869G	ATRNL1_uc010qsm.2_Silent_p.G44G|ATRNL1_uc010qsn.2_5'Flank	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	869	C-type lectin.					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)		TGGCAAATGGCCTTGTCTGTG	0.438000														32			7		0	0	0.003080	0	0
RGS3	5998	broad.mit.edu	37	9	116241803	116241803	+	Missense_Mutation	SNP	C	G	G	rs138702068	by1000genomes	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr9:116241803C>G	uc004bhq.3	+	4	657	c.448C>G	c.(448-450)Cgg>Ggg	p.R150G	RGS3_uc004bhr.3_Missense_Mutation_p.R38G|RGS3_uc004bhs.3_Silent_p.T4T	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	150	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.R150W(1)|p.R46W(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGCCCAGGACCGGGTTCTGCT	0.587000														130			7		0	0	0.001984	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														23			7		0	0	0.001984	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477062	110477062	+	Silent	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr8:110477062C>T	uc003yne.3	+	48	8105	c.8001C>T	c.(7999-8001)gcC>gcT	p.A2667A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2667					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGGAGGTGCCCTTCAGTTCC	0.443000										HNSCC(38;0.096)				80			11		0	0	0.008291	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	G	G	rs143004725	by1000genomes	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:12885059C>G	uc001auk.2	-	3	1248	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	351								p.C351S(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532000														178			6		0	0	0.006214	0	0
TTC8	123016	broad.mit.edu	37	14	89338675	89338675	+	Splice_Site	SNP	G	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr14:89338675G>C	uc010ath.3	+	13	1407	c.1273_splice	c.e13-1	p.G425_splice	TTC8_uc001xxi.3_Splice_Site_p.G409_splice|TTC8_uc001xxj.3_Splice_Site_p.G399_splice|TTC8_uc001xxk.3_Splice_Site_p.G369_splice|TTC8_uc001xxl.3_Splice_Site_p.G170_splice|TTC8_uc010ati.3_Splice_Site_p.G211_splice|TTC8_uc010atj.3_Splice_Site_p.G144_splice	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	435					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CTTTTGTAGGGAATAGGAGAT	0.488000														57			3		0	0	0.004672	0	0
ERAS	3266	broad.mit.edu	37	X	48687675	48687675	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chrX:48687675G>A	uc004dky.1	+	0	393	c.142G>A	c.(142-144)Ggc>Agc	p.G48S		NM_181532	NP_853510	Q7Z444	RASE_HUMAN	Homo sapiens ES cell expressed Ras (ERAS), mRNA.	48					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						TGTGGTGGTGGGCGCCAGTGG	0.642000														24			4		0	0	0.009096	0	0
ZNF85	7639	broad.mit.edu	37	19	21131712	21131712	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:21131712G>C	uc002npg.4	+	3	540	c.392G>C	c.(391-393)tGt>tCt	p.C131S	ZNF85_uc010ecn.3_Missense_Mutation_p.C66S|ZNF85_uc010eco.3_Missense_Mutation_p.C79S|ZNF85_uc002npi.3_Missense_Mutation_p.C72S	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	131						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.C131F(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAAGGAGGTTGTAATGGACTT	0.328000														57			4		0	0	0.009096	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398084	23398084	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chrX:23398084C>G	uc004dal.4	+	1	736	c.728C>G	c.(727-729)tCc>tGc	p.S243C	PTCHD1_uc010nfu.2_Missense_Mutation_p.S243C	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	243					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTCAGAAATCCAACAGCAAA	0.507000														138			15		0	0	0.007413	0	0
MED20	9477	broad.mit.edu	37	6	41874865	41874865	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:41874865T>A	uc003ork.3	-	3	705	c.584A>T	c.(583-585)gAa>gTa	p.E195V	MED20_uc003orj.3_Missense_Mutation_p.E130V|MED20_uc011duh.2_3'UTR|MED20_uc011dui.2_Non-coding_Transcript|MED20_uc011duj.2_Missense_Mutation_p.E130V	NM_004275	NP_004266	Q9H944	MED20_HUMAN	Homo sapiens mediator complex subunit 20 (MED20), mRNA.	195					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTGAAGAGTTCCATGTACTG	0.572000														50			37		0	0	0.004878	0	0
PDE6C	5146	broad.mit.edu	37	10	95380467	95380467	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr10:95380467G>A	uc001kiu.4	+	1	697	c.559G>A	c.(559-561)Ggc>Agc	p.G187S		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	187	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GATCGTGGTGGGCAAGGAGGT	0.448000														102			9		0	0	0.004482	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994100	140994100	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chrX:140994100C>A	uc004fbt.3	+	3	1234	c.910C>A	c.(910-912)Cag>Aag	p.Q304K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	304							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCCTCTCCAGATTCCTGT	0.498000										HNSCC(15;0.026)				128			18		6.94344e-10	1.43454e-09	0.006122	1	0
UPK2	7379	broad.mit.edu	37	11	118827131	118827131	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr11:118827131C>A	uc001puh.3	+	0	124	c.71C>A	c.(70-72)gCt>gAt	p.A24D		NM_006760	NP_006751	O00526	UPK2_HUMAN	Homo sapiens uroplakin 2 (UPK2), mRNA.	24					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCCCCAGGGGCTGCAGGTCTC	0.637000														53			12		0.00136819	0.00251794	0.013537	1	0
LPHN3	23284	broad.mit.edu	37	4	62845386	62845386	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr4:62845386C>T	uc010ihh.3	+	14	2880	c.2707C>T	c.(2707-2709)Cgg>Tgg	p.R903W	LPHN3_uc003hcq.4_Missense_Mutation_p.R903W|LPHN3_uc003hct.3_Missense_Mutation_p.R296W	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	890					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTGCTTTTTCCGGGGGCTCCA	0.493000														180			64		0	0	0.014410	0	0
VRTN	55237	broad.mit.edu	37	14	74823852	74823852	+	Silent	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr14:74823852C>T	uc021rwl.1	+	0	366	c.366C>T	c.(364-366)ggC>ggT	p.G122G	VRTN_uc001xpw.4_Silent_p.G122G	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	122					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						ACCTCCAGGGCATGATCGACT	0.647000														24			4		0	0	0.009096	0	0
TRIM27	5987	broad.mit.edu	37	6	28871870	28871870	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:28871870G>C	uc003nlr.3	-	7	1878	c.1519C>G	c.(1519-1521)Cat>Gat	p.H507D	TRIM27_uc003nls.3_3'UTR|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	507					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCCATGGAATGACCATGATTC	0.527000			T	RET	papillary thyroid									97			7		0	0	0.003080	0	0
ATP9B	374868	broad.mit.edu	37	18	77067094	77067094	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr18:77067094G>A	uc002lmx.3	+	14	1647	c.1633G>A	c.(1633-1635)Gtg>Atg	p.V545M	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.V545M|ATP9B_uc002lmz.1_Missense_Mutation_p.V239M	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	545					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CCATGAAGCCGTGAAAGCCAT	0.507000														50			14		0	0	0.002450	0	0
LAMA1	284217	broad.mit.edu	37	18	6943282	6943282	+	Silent	SNP	A	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr18:6943282A>C	uc002knm.3	-	61	9058	c.8964T>G	c.(8962-8964)cgT>cgG	p.R2988R	LAMA1_uc002knk.3_Silent_p.R318R|LAMA1_uc002knl.3_Silent_p.R441R|LAMA1_uc010wzj.2_Silent_p.R2464R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2988	Laminin G-like 5.				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)	TCAGAGTGATACGGTGTTTGC	0.493000														122			19		0	0	0.007413	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954471	35954471	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:35954471T>C	uc003jjv.2	-	6	1598	c.1405A>G	c.(1405-1407)Acg>Gcg	p.T469A	UGT3A1_uc003jjw.2_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	469						integral to membrane	glucuronosyltransferase activity	p.T469M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGAGGTGCGTCGCTCCCCCA	0.612000														22			6		0	0	0.001984	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64526833	64526833	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr3:64526833G>A	uc003dmg.3	-	35	5491	c.5459C>T	c.(5458-5460)aCg>aTg	p.T1820M	ADAMTS9_uc011bfo.2_Missense_Mutation_p.T1792M|ADAMTS9_uc011bfp.1_Missense_Mutation_p.T731M	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1820	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCCAGCGGCCGTGTAATCCTT	0.468000														454			11		0	0	0.002450	0	0
C3orf26	84319	broad.mit.edu	37	3	99891184	99891184	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr3:99891184G>C	uc003dtl.3	+	7	750	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	C3orf26_uc021xbt.1_Missense_Mutation_p.E184Q	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	Homo sapiens chromosome 3 open reading frame 26 (C3orf26), transcript variant 1, mRNA.	202							ATP binding|ATP-dependent helicase activity|nucleic acid binding			large_intestine(4)|lung(5)|ovary(1)|skin(2)|urinary_tract(2)	14						AAAGTTGCTGGAGAAGCGTGT	0.443000														66			9		0	0	0.006214	0	0
OR6T1	219874	broad.mit.edu	37	11	123813903	123813903	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr11:123813903A>C	uc010sab.2	-	0	643	c.643T>G	c.(643-645)Tca>Gca	p.S215A		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TAGGAAACTGAGGTCAGAGCC	0.547000														73			5		0	0	0.000602	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366564	40366564	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:40366564A>G	uc002rrx.3	-	8	2546	c.2522T>C	c.(2521-2523)gTc>gCc	p.V841A	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.V836A|SLC8A1_uc002rsb.2_Missense_Mutation_p.V833A|SLC8A1_uc002rrz.3_Missense_Mutation_p.V828A|SLC8A1_uc002rsa.3_Missense_Mutation_p.V805A|SLC8A1_uc002rsd.4_Missense_Mutation_p.V805A	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	841					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.F840L(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCCAAGTGCGACGAACACGAC	0.453000														40			4		0	0	0.009096	0	0
SMG6	23293	broad.mit.edu	37	17	2202561	2202561	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:2202561C>T	uc002fub.1	-	1	1541	c.1486G>A	c.(1486-1488)Gca>Aca	p.A496T	SMG6_uc002fud.2_Missense_Mutation_p.A465T	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	496	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAGTAAGATGCCTGAGCCTGG	0.502000														207			53		0	0	0.014410	0	0
GRIK5	2901	broad.mit.edu	37	19	42566747	42566747	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:42566747G>A	uc002osj.1	-	3	436	c.401C>T	c.(400-402)gCg>gTg	p.A134V	GRIK5_uc010eib.1_Missense_Mutation_p.A53V	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	134						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCTGACAGACGCGAAGCGAAG	0.602000														141			11		0	0	0.001855	0	0
abParts	0	broad.mit.edu	37	14	107114004	107114004	+	RNA	SNP	A	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr14:107114004A>C	uc021ser.1	-	96		c.4225T>G								Parts of antibodies, mostly variable regions.																		GGCTGGACCAAGCCTTCCCCA	0.577000														129			4		0	0	0.000602	0	0
LIN28A	79727	broad.mit.edu	37	1	26751818	26751818	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:26751818C>T	uc001bmj.3	+	2	367	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	LIN28A_uc001bmi.1_Non-coding_Transcript	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	Homo sapiens lin-28 homolog A (C. elegans) (LIN28A), mRNA.	85	CSD.				RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GGAAGGGTTCCGGAGCTTGAA	0.448000														81			6		0	0	0.001168	0	0
SH3RF2	153769	broad.mit.edu	37	5	145317757	145317757	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:145317757G>A	uc003lnt.3	+	1	504	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SH3RF2_uc011dbl.1_Missense_Mutation_p.R89H	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	89							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTCCTTCCGCAGGCCTGGC	0.617000														50			16		0	0	0.003163	0	0
UBE3B	89910	broad.mit.edu	37	12	109949049	109949049	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr12:109949049G>A	uc001top.3	+	17	2500	c.1897G>A	c.(1897-1899)Gac>Aac	p.D633N	UBE3B_uc001toq.3_Missense_Mutation_p.D633N|UBE3B_uc001tos.3_Missense_Mutation_p.D60N|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.D633N	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	633					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.D633E(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						ACTCGACAGGGACAGAAAACG	0.478000														25			3		0	0	0.004672	0	0
GRIA1	2890	broad.mit.edu	37	5	153054142	153054142	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:153054142C>G	uc011dcy.2	+	5	839	c.812C>G	c.(811-813)aCt>aGt	p.T271S	GRIA1_uc003lva.4_Missense_Mutation_p.T261S|GRIA1_uc003luy.4_Missense_Mutation_p.T261S|GRIA1_uc003luz.4_Missense_Mutation_p.T166S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.T181S|GRIA1_uc011dcx.2_Missense_Mutation_p.T192S|GRIA1_uc011dcz.2_Missense_Mutation_p.T271S|GRIA1_uc010jia.1_Missense_Mutation_p.T241S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	261					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TACACAGACACTATTCCGGCC	0.532000														133			42		0	0	0.006999	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842005	8842005	+	Silent	SNP	G	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:8842005G>T	uc010xkg.2	+	0	615	c.615G>T	c.(613-615)ctG>ctT	p.L205L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAGGGGTGCTGATCCTAATGC	0.567000											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		90			7		2.0095e-06	4.03743e-06	0.001984	1	0
PRUNE2	158471	broad.mit.edu	37	9	79321837	79321837	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr9:79321837C>G	uc010mpk.3	-	7	5477	c.5353G>C	c.(5353-5355)Gag>Cag	p.E1785Q	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.E1607Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1785					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GATCTCTTCTCCTTCTCCACT	0.443000														25			4		0	0	0.009096	0	0
B2M	567	broad.mit.edu	37	15	45003745	45003745	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr15:45003745A>T	uc001zuc.3	+	0	61	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	B2M_uc010uek.1_Missense_Mutation_p.M1L|B2M_uc010bdx.1_Missense_Mutation_p.M1L	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	1					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.M1L(6)|p.M1V(4)|p.M1R(3)|p.M1T(2)|p.M1K(2)|p.?(1)|p.M1I(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCGGGCCGAGATGTCTCGCTC	0.612000														38			14		0	0	0.004990	0	0
MMP9	4318	broad.mit.edu	37	20	44640212	44640212	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr20:44640212G>A	uc002xqz.3	+	6	843	c.824_splice	c.e6-1	p.R275_splice		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	275					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCTCGCCCCAGGACTCTACAC	0.567000														97			4		0	0	0.009096	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857593	9857593	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr16:9857593C>G	uc010uym.2	-	13	4118	c.3808G>C	c.(3808-3810)Gac>Cac	p.D1270H	GRIN2A_uc002czo.4_Missense_Mutation_p.D1270H|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.	1270					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)	TGTGCCCAGTCCTGCTGGTAG	0.517000														78			12		0	0	0.010729	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817552	77817552	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr4:77817552G>T	uc003hki.3	-	0	1451	c.1451C>A	c.(1450-1452)cCt>cAt	p.P484H		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	484																	CCAAGGCAAAGGCTTCAGGGG	0.592000														152			6		3.59834e-05	7.03603e-05	0.001168	1	0
PDLIM5	10611	broad.mit.edu	37	4	95497040	95497040	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr4:95497040C>G	uc003hti.3	+	4	716	c.565C>G	c.(565-567)Cag>Gag	p.Q189E	PDLIM5_uc003htf.3_Intron|PDLIM5_uc003htg.3_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003htj.3_Intron|PDLIM5_uc003htk.3_Intron|PDLIM5_uc011cdy.2_Missense_Mutation_p.Q67E|PDLIM5_uc003hth.3_Intron	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	189					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	p.D188G(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TAGTGCTGACCAGTCTCCATC	0.562000														98			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179640377	179640377	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:179640377T>G	uc021vsy.1	-	27	6439	c.6214A>C	c.(6214-6216)Agt>Cgt	p.S2072R	TTN_uc021vsz.1_Missense_Mutation_p.S2026R|TTN_uc021vta.1_Missense_Mutation_p.S2026R|TTN_uc021vtb.1_Missense_Mutation_p.S2026R|TTN_uc002unb.2_Missense_Mutation_p.S2072R|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2072							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K2071R(1)		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)			ATACTAGGACTTAGTTCAATC	0.458000														94			10		0	0	0.008291	0	0
TFEC	22797	broad.mit.edu	37	7	115624450	115624450	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr7:115624450G>T	uc003vhj.2	-	1	299	c.46C>A	c.(46-48)Caa>Aaa	p.Q16K	TFEC_uc003vhk.2_Missense_Mutation_p.Q16K|TFEC_uc003vhl.4_Missense_Mutation_p.Q16K|TFEC_uc011kmw.2_Missense_Mutation_p.Q106K	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	16	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACTGCAGGTTGTGACCATTTA	0.483000														63			62		1.48873e-21	3.19638e-21	0.014410	1	0
ARHGAP44	9912	broad.mit.edu	37	17	12883489	12883489	+	Silent	SNP	G	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:12883489G>T	uc002gnr.4	+	18	2205	c.1878G>T	c.(1876-1878)ccG>ccT	p.P626P	ARHGAP44_uc010vvk.2_Silent_p.P626P|ARHGAP44_uc010vvl.2_Silent_p.P620P|ARHGAP44_uc002gns.4_Silent_p.P420P|ARHGAP44_uc010vvm.2_Silent_p.P620P|ARHGAP44_uc010vvn.2_Intron	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	626					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GAGCTCAGCCGGGCGCCAGCC	0.647000														40			5		3.59834e-05	7.03603e-05	0.001168	1	0
DSP	1832	broad.mit.edu	37	6	7581095	7581095	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:7581095C>T	uc003mxp.1	+	22	4951	c.4672C>T	c.(4672-4674)Cgg>Tgg	p.R1558W	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1558	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGATATCACGCGGTTCCAGAA	0.517000														120			16		0	0	0.004007	0	0
ANK3	288	broad.mit.edu	37	10	61828512	61828512	+	Silent	SNP	G	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr10:61828512G>T	uc001jky.3	-	36	12465	c.12127C>A	c.(12127-12129)Cgg>Agg	p.R4043R	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4043					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R4043R(2)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGCCACCCCGGGAAGTCTCG	0.488000														146			9		7.48243e-07	1.51727e-06	0.006214	1	0
PNMAL1	55228	broad.mit.edu	37	19	46974137	46974137	+	Silent	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:46974137C>T	uc002peq.4	-	1	462	c.156G>A	c.(154-156)ccG>ccA	p.P52P	PNMAL1_uc002per.4_Silent_p.P52P	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	52										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gcacgcggtacgggcccagtg	0.537000														41			9		0	0	0.004482	0	0
APOLD1	81575	broad.mit.edu	37	12	12940476	12940476	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr12:12940476C>G	uc001rau.4	+	1	814	c.730C>G	c.(730-732)Ctg>Gtg	p.L244V	DDX47_uc001rav.3_Intron|APOLD1_uc001raw.4_Missense_Mutation_p.L213V	NM_001130415	NP_001123887	Q96LR9	APLD1_HUMAN	Homo sapiens apolipoprotein L domain containing 1 (APOLD1), transcript variant 1, mRNA.	244					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		CACCGGGGCTCTGGACGAACT	0.637000														89			4		0	0	0.009096	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				89			74		0	0	0.014410	0	0
OR10S1	219873	broad.mit.edu	37	11	123847612	123847612	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr11:123847612G>A	uc001pzm.1	-	0	787	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGTACAGGAGCACCCCAGTG	0.602000														82			25		0	0	0.002780	0	0
MYH8	4626	broad.mit.edu	37	17	10304723	10304723	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:10304723C>T	uc002gmm.2	-	23	3072	c.2977G>A	c.(2977-2979)Gca>Aca	p.A993T	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	993					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GACAGTTTTGCAATGGTTTCA	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					112			11		0	0	0.010729	0	0
METTL11A	28989	broad.mit.edu	37	9	132395060	132395060	+	Silent	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr9:132395060G>A	uc004byd.1	+	1	272	c.78G>A	c.(76-78)acG>acA	p.T26T	METTL11A_uc011mbs.1_Silent_p.T26T|METTL11A_uc010myw.1_Non-coding_Transcript	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	Homo sapiens methyltransferase like 11A (METTL11A), mRNA.	26					N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|chromosome segregation|spindle organization	nucleus	protein binding|protein methyltransferase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						TCCCACCCACGGTGGACGGCA	0.547000														89			13		0	0	0.013537	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103405977	103405977	+	Silent	SNP	G	A	A	rs150855245	byFrequency	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr14:103405977G>A	uc001ymi.1	-	33	5029	c.4797C>T	c.(4795-4797)gaC>gaT	p.D1599D		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1599					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTGCATGCCGTCGCCTGGGC	0.612000														84			38		0	0	0.004289	0	0
SEC14L1	6397	broad.mit.edu	37	17	75210034	75210034	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:75210034G>A	uc010dhc.3	+	16	2397	c.2077G>A	c.(2077-2079)Ggc>Agc	p.G693S	SEC14L1_uc021udw.1_Missense_Mutation_p.G693S|SEC14L1_uc021udx.1_Missense_Mutation_p.G693S|SEC14L1_uc002jto.3_Missense_Mutation_p.G693S|SEC14L1_uc010wth.2_Missense_Mutation_p.G693S|SEC14L1_uc002jtm.3_Missense_Mutation_p.G693S|SEC14L1_uc010wti.2_Missense_Mutation_p.G659S|SEC14L1_uc010wtj.1_3'UTR|SEC14L1_uc002jtr.2_3'UTR	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	693					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CAGCCACAGCGGCTTCTCCCA	0.657000														104			21		0	0	0.002780	0	0
SLC26A8	116369	broad.mit.edu	37	6	35911728	35911728	+	Silent	SNP	G	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr6:35911728G>T	uc003olm.3	-	19	2973	c.2862C>A	c.(2860-2862)cgC>cgA	p.R954R	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Silent_p.R536R|SLC26A8_uc003oll.3_Silent_p.R849R|SLC26A8_uc003oln.3_Silent_p.R954R	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	954	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CCATAGGATGGCGTCTCCTCT	0.488000														136			26		1.33986e-20	2.84883e-20	0.004656	1	0
SERPINA7	6906	broad.mit.edu	37	X	105277631	105277631	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chrX:105277631C>A	uc010npd.3	-	3	1343	c.1108G>T	c.(1108-1110)Gtt>Ttt	p.V370F	SERPINA7_uc004eme.2_Missense_Mutation_p.V370F	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	370					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GAAAGTTCAACTTCAGGGACA	0.458000														151			21		9.95505e-16	2.0963e-15	0.014323	1	0
DNAH5	1767	broad.mit.edu	37	5	13759027	13759027	+	Silent	SNP	G	A	A	rs150773884	by1000genomes	TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:13759027G>A	uc003jfd.2	-	60	10389	c.10347C>T	c.(10345-10347)gcC>gcT	p.A3449A	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3449	Stalk (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)					CATCCAACTCGGCCTGGGCTT	0.552000									Kartagener syndrome					174			11		0	0	0.013537	0	0
TRPV5	56302	broad.mit.edu	37	7	142627261	142627261	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr7:142627261T>C	uc003wby.1	-	2	505	c.241A>G	c.(241-243)Acg>Gcg	p.T81A	TRPV5_uc003wbz.3_Missense_Mutation_p.T81A	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	81					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGCAGCGCCGTCTCCCCCAGG	0.587000														94			5		0	0	0.000602	0	0
KCNT2	343450	broad.mit.edu	37	1	196250003	196250003	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:196250003A>C	uc001gtd.1	-	24	2957	c.2897T>G	c.(2896-2898)cTt>cGt	p.L966R	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.L892R|KCNT2_uc001gtf.1_Missense_Mutation_p.L942R|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.L942R|KCNT2_uc001gth.1_Missense_Mutation_p.L463R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	966						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.L966R(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGATGTAGTAAGTTTCTGAGA	0.328000														53			4		0	0	0.009096	0	0
NLRP2	55655	broad.mit.edu	37	19	55489137	55489137	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:55489137C>T	uc021vbq.1	+	3	454	c.343C>T	c.(343-345)Cga>Tga	p.R115*	NLRP2_uc010yfp.2_Nonsense_Mutation_p.R92*|NLRP2_uc002qij.3_Nonsense_Mutation_p.R115*|NLRP2_uc010esp.3_Nonsense_Mutation_p.R115*|NLRP2_uc010esn.3_Intron|NLRP2_uc010eso.3_Nonsense_Mutation_p.R115*	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	115					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.R115*(1)		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)		ACGGAAAGAACGACCACCTCT	0.552000														93			5		0	0	0.000602	0	0
GDNF	2668	broad.mit.edu	37	5	37816054	37816054	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:37816054C>T	uc011cpi.2	-	2	535	c.335G>A	c.(334-336)aGg>aAg	p.R112K	GDNF_uc011cpd.2_Missense_Mutation_p.R60K|GDNF_uc011cpe.2_Missense_Mutation_p.R86K|GDNF_uc011cpf.2_Missense_Mutation_p.R86K|GDNF_uc011cpg.2_Missense_Mutation_p.R129K|GDNF_uc011cph.2_Missense_Mutation_p.R103K	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.	112					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GTTTTTGCCCCTCTGGCCTCT	0.493000														105			15		0	0	0.002450	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996184	19996184	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr18:19996184G>C	uc002ktv.1	-	0	1695	c.1591C>G	c.(1591-1593)Cca>Gca	p.P531A		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	531						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGATTCCCTGGGCCTCTGGAG	0.527000														89			6		0	0	0.001984	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														7			5		0	0	0.000602	0	0
PHC2	1912	broad.mit.edu	37	1	33832801	33832801	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:33832801T>G	uc009vuh.1	-	6	1381	c.892A>C	c.(892-894)Agc>Cgc	p.S298R	PHC2_uc001bxg.1_Missense_Mutation_p.S298R|PHC2_uc001bxh.1_Missense_Mutation_p.S269R|PHC2_uc001bxi.1_Missense_Mutation_p.S298R	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	298					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCACACTGCTGTTGCCATCT	0.602000														144			13		0	0	0.002450	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965628	7965628	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr19:7965628G>A	uc002mir.3	+	2	2322	c.2221G>A	c.(2221-2223)Gtg>Atg	p.V741M		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	741						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CTCGCCCCACGTGGGTGCCCT	0.642000														105			5		0	0	0.000602	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	25551	25551	+	RNA	SNP	A	G	G			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chrGL000241.1:25551A>G	uc011mgv.2	-	3		c.441T>C								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		ATCCATTTCAATGGCTATGGT	0.378000														324			9		0	0	0.003163	0	0
FAM5C	339479	broad.mit.edu	37	1	190067878	190067878	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:190067878C>A	uc001gse.1	-	7	1803	c.1571G>T	c.(1570-1572)tGg>tTg	p.W524L	FAM5C_uc010pot.1_Missense_Mutation_p.W422L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	524						extracellular region				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)					GGGATCAAACCAGCTATTGAG	0.448000														105			38		2.66277e-13	5.55377e-13	0.006999	1	0
TSNARE1	203062	broad.mit.edu	37	8	143425673	143425673	+	Silent	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr8:143425673G>A	uc003ywj.3	-	2	438	c.399C>T	c.(397-399)acC>acT	p.T133T	TSNARE1_uc011lju.2_Silent_p.T133T|TSNARE1_uc003ywk.3_Silent_p.T133T|TSNARE1_uc003ywl.4_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	133					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAGCACCTCGGTCTCCTGCG	0.682000														36			5		0	0	0.000602	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125844486	125844486	+	Silent	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr3:125844486C>T	uc003eim.1	-	14	1963	c.1773G>A	c.(1771-1773)ggG>ggA	p.G591G	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.G490G	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	591	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCACTGTGTTCCCGGCAGCCA	0.572000														81			4		0	0	0.001168	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853764	35853764	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr9:35853764G>C	uc003zyo.3	+	12	2634	c.1346G>C	c.(1345-1347)tGc>tCc	p.C449S	TMEM8B_uc003zym.3_Missense_Mutation_p.C449S	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	449					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TACCAGCTATGCATCAACGAG	0.677000														99			12		0	0	0.001855	0	0
TNRC6B	23112	broad.mit.edu	37	22	40706900	40706900	+	Silent	SNP	T	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr22:40706900T>C	uc011aor.2	+	16	4549	c.4338T>C	c.(4336-4338)ggT>ggC	p.G1446G	TNRC6B_uc003aym.3_Silent_p.G642G|TNRC6B_uc003ayn.4_Silent_p.G1336G|TNRC6B_uc003ayo.3_Silent_p.G1193G	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1446					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						ACACACTGGGTGGCCATACGG	0.507000														41			5		0	0	0.000602	0	0
ATP11C	286410	broad.mit.edu	37	X	138856964	138856964	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chrX:138856964T>C	uc004faz.3	-	18	2209	c.2110A>G	c.(2110-2112)Acc>Gcc	p.T704A	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.T704A	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	704					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GTTTTTGTGGTTAGTTCTAAG	0.418000														52			4		0	0	0.009096	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chrGL000205.1:117582C>T	uc002kgk.4	+	0		c.960C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000														16			8		0	0	0.004482	0	0
STEAP3	55240	broad.mit.edu	37	2	120020788	120020788	+	Silent	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:120020788C>T	uc002tlp.3	+	5	1498	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	STEAP3_uc002tlq.3_Silent_p.A457A|STEAP3_uc002tlr.3_Silent_p.A447A|STEAP3_uc010fle.3_3'UTR	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	447					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TGGCCAAAGCCCTGTTTCTCC	0.647000														100			9		0	0	0.006214	0	0
PDGFB	5155	broad.mit.edu	37	22	39626222	39626222	+	Silent	SNP	G	A	A			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr22:39626222G>A	uc003axf.3	-	4	1457	c.468C>T	c.(466-468)atC>atT	p.I156I	PDGFB_uc003axe.3_Silent_p.I141I	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	156					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GCACAATCTCGATCTTTCTCA	0.582000			T	COL1A1	DFSP									88			7		0	0	0.001984	0	0
TANC2	26115	broad.mit.edu	37	17	61278279	61278279	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr17:61278279C>T	uc002jal.4	+	4	531	c.508C>T	c.(508-510)Cca>Tca	p.P170S	TANC2_uc010wpe.2_Missense_Mutation_p.P80S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	170							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGTTACTAGTCCAACCTCTAC	0.443000														56			22		0	0	0.010504	0	0
CCDC27	148870	broad.mit.edu	37	1	3669271	3669271	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:3669271C>T	uc001akv.2	+	0	307	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	76										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CATGGCCAGCCGGGACGCCCG	0.622000														51			36		0	0	0.013726	0	0
RCC2	55920	broad.mit.edu	37	1	17747311	17747311	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:17747311delC	uc001bal.3	-	5	807	c.758delG	c.(757-759)ggcfs	p.G253fs	RCC2_uc001bam.3_Frame_Shift_Del_p.G253fs	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	253					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AATTGGCTGGCCGTTGTACAT	0.413													---	65	---	---	7	---					
CCDC30	728621	broad.mit.edu	37	1	43002200	43002201	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:43002200_43002201delAG	uc009vwk.1	+	1	155_156	c.45_46delAG	c.(43-48)aaagagfs	p.K15fs	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Frame_Shift_Del_p.K15fs	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	15										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGTGGTCAAAAGAGAGAGAGAG	0.356													---	72	---	---	10	---					
ADAM15	8751	broad.mit.edu	37	1	155030138	155030139	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:155030138_155030139insT	uc001fgr.1	+	12	1450_1451	c.1349_1350insT	c.(1348-1350)tctfs	p.S450fs	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_Frame_Shift_Ins_p.S135fs|ADAM15_uc010pet.1_Frame_Shift_Ins_p.S434fs|ADAM15_uc010peu.1_Frame_Shift_Ins_p.S467fs|ADAM15_uc001fgx.1_Frame_Shift_Ins_p.S450fs|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Frame_Shift_Ins_p.S450fs|ADAM15_uc001fgs.1_Frame_Shift_Ins_p.S450fs|ADAM15_uc010pev.1_Frame_Shift_Ins_p.S460fs|ADAM15_uc001fgu.1_Frame_Shift_Ins_p.S450fs|ADAM15_uc001fgv.1_Frame_Shift_Ins_p.S450fs|ADAM15_uc001fgw.1_Frame_Shift_Ins_p.S450fs	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	450	Disintegrin.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGCTGTGATTCTTTGACCTGCC	0.619													---	169	---	---	80	---					
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:160589601delT	uc001fwl.4	-	4	1175	c.829delA	c.(829-831)agcfs	p.S277fs	SLAMF1_uc010pjk.2_Intron|SLAMF1_uc010pjl.2_Intron|SLAMF1_uc010pjm.2_Intron	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	277					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433													---	184	---	---	8	---					
FAM5B	57795	broad.mit.edu	37	1	177249666	177249666	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr1:177249666delT	uc001glf.3	+	7	1666	c.1354delT	c.(1354-1356)tgcfs	p.C452fs	FAM5B_uc001glg.3_Frame_Shift_Del_p.C347fs	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	452						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCAATCTTCCTGCCAGGGCCC	0.607													---	39	---	---	17	---					
ZNF804A	91752	broad.mit.edu	37	2	185801896	185801896	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:185801896delT	uc002uph.3	+	3	2367	c.1773delT	c.(1771-1773)catfs	p.H591fs		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	591						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACTGGTTCCATAAAAGTAGAA	0.308													---	84	---	---	15	---					
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	-	-			TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr2:233243529_233243531delTGC	uc002vsq.3	+	0	182_184	c.17_19delTGC	c.(16-21)atgctg>atg	p.L13del		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	13						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616													---	103	---	---	8	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	GGC	GGC	rs71338073		TCGA-ER-A2NB-01A-12D-A196-08	TCGA-ER-A2NB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d5f98d-c677-482d-b00d-24946ad60a25	926ae523-c8bc-43ff-bd68-77b01d7cacc3	g.chr18:77623691_77623692insGGC	uc010xfl.2	+	0	24_25	c.24_25insGGC	c.(22-27)insGGC	p.13_14insG		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	13	Poly-Gly.				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													---	5	---	---	4	---