Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC9A6	10479	broad.mit.edu	37	X	135122279	135122279	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:135122279C>A	ENST00000370695.4	+	15	1807	c.1772C>A	c.(1771-1773)aCa>aAa	p.T591K	SLC9A6_ENST00000370701.1_Missense_Mutation_p.T539K|SLC9A6_ENST00000370698.3_Missense_Mutation_p.T559K	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	559					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCGCTGACAACAACACTCCCT	0.502000													11	16					3.27435e-08	3.95542e-08	1	1	0
RBMS1	5937	broad.mit.edu	37	2	161223780	161223780	+	Missense_Mutation	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:161223780G>C	ENST00000348849.3	-	2	628	c.198C>G	c.(196-198)atC>atG	p.I66M	RBMS1_ENST00000409972.1_Missense_Mutation_p.I33M|RBMS1_ENST00000409289.2_Missense_Mutation_p.I33M|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.I66M|RBMS1_ENST00000409075.1_Missense_Mutation_p.I33M	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	66	RRM 1.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								GCAGTCCTCGGATATAGAGGT	0.502000													27	34					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152482118	152482118	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:152482118G>A	ENST00000397345.3	-	71	10584	c.10382C>T	c.(10381-10383)aCc>aTc	p.T3461I	NEB_ENST00000172853.10_Missense_Mutation_p.T3218I|NEB_ENST00000427231.2_Missense_Mutation_p.T3461I|NEB_ENST00000603639.1_Missense_Mutation_p.T3461I|NEB_ENST00000409198.1_Missense_Mutation_p.T3218I|NEB_ENST00000604864.1_Missense_Mutation_p.T3461I	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3461					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGGACTTGGGTCTTGTCTTT	0.328000													6	11					0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169764323	169764323	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:169764323G>T	ENST00000375363.3	+	5	894	c.802G>T	c.(802-804)Ggc>Tgc	p.G268C	G6PC2_ENST00000421979.1_3'UTR|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	268					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GGTCCTCTTTGGCTTGGGCTT	0.532000													18	35					4.35082e-09	5.42953e-09	1	1	0
CD226	10666	broad.mit.edu	37	18	67563079	67563079	+	Silent	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr18:67563079T>A	ENST00000280200.4	-	4	853	c.585A>T	c.(583-585)atA>atT	p.I195I	CD226_ENST00000577287.1_Silent_p.I40I|CD226_ENST00000582621.1_Silent_p.I195I|CD226_ENST00000581982.1_Silent_p.I40I	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	195	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AGTTGCTCACTATTTGTCTTG	0.542000													25	56					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109383271	109383271	+	Silent	SNP	G	G	T	rs144939595	byFrequency	TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:109383271G>T	ENST00000283195.6	+	20	6402	c.6276G>T	c.(6274-6276)acG>acT	p.T2092T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2092	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TAACGACTACGATGAACCTGA	0.413000													133	283					1.3892e-51	2.66657e-51	1	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50196879	50196879	+	Splice_Site	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:50196879C>A	ENST00000335999.6	-	4	394		c.e4+1			NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like											central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GACCCACAGACCTCGTCCAGA	0.607000													14	54					2.32078e-09	2.94486e-09	1	1	0
KCNJ3	3760	broad.mit.edu	37	2	155555326	155555326	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:155555326G>T	ENST00000295101.2	+	1	516	c.39G>T	c.(37-39)caG>caT	p.Q13H	KCNJ3_ENST00000544049.1_Missense_Mutation_p.Q13H	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	13					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ACGATTATCAGGTAGTGACCA	0.607000													19	58					7.33628e-21	1.22632e-20	1	1	0
DAP	1611	broad.mit.edu	37	5	10683654	10683654	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:10683654C>A	ENST00000230895.6	-	3	385	c.182G>T	c.(181-183)gGg>gTg	p.G61V	DAP_ENST00000432074.2_Intron	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	61					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding			endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				GGCGATGACCCCAGAGATGAA	0.498000													21	159					7.41877e-09	9.15723e-09	1	1	0
DPYS	1807	broad.mit.edu	37	8	105456598	105456598	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:105456598G>T	ENST00000351513.2	-	4	803	c.671C>A	c.(670-672)gCa>gAa	p.A224E		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	224					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGCCTCCACTGCCTCTGGGCG	0.547000													13	28					0.00185496	0.00192728	1	1	0
SLC28A3	64078	broad.mit.edu	37	9	86900992	86900992	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:86900992C>T	ENST00000376238.4	-	13	1364	c.1315G>A	c.(1315-1317)Gga>Aga	p.G439R	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G370R|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	439					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGGATGCTCCCTGTGTTGCA	0.488000													12	27					0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	153005660	153005660	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:153005660C>T	ENST00000218104.3	+	6	2002	c.1603C>T	c.(1603-1605)Cca>Tca	p.P535S	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	535	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTACAAGCCCCCACCCCAGCG	0.632000													22	81					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67345071	67345071	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr18:67345071G>T	ENST00000382713.5	+	4	581	c.391G>T	c.(391-393)Gtg>Ttg	p.V131L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	131							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGCCGCAGGAGTGCAGCGGGA	0.527000													14	31					4.3838e-07	5.1182e-07	1	1	0
DENND2A	27147	broad.mit.edu	37	7	140287578	140287578	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:140287578T>A	ENST00000275884.6	-	3	1415	c.998A>T	c.(997-999)aAg>aTg	p.K333M	DENND2A_ENST00000537639.1_Missense_Mutation_p.K333M|DENND2A_ENST00000496613.1_Missense_Mutation_p.K333M|DENND2A_ENST00000492720.1_Missense_Mutation_p.K333M			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	333										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTCATAGGACTTTCTGGAATG	0.433000													47	20					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021552	5021552	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:5021552G>T	ENST00000382545.3	+	2	2115	c.1008G>T	c.(1006-1008)ggG>ggT	p.G336G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	336					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTTCATCGGGGTCATCCTGT	0.552000													40	80					4.00102e-26	7.24984e-26	1	1	0
PEAR1	375033	broad.mit.edu	37	1	156876137	156876137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:156876137G>A	ENST00000338302.3	+	6	602	c.377G>A	c.(376-378)tGg>tAg	p.W126*	PEAR1_ENST00000292357.7_Nonsense_Mutation_p.W126*			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	126	EGF-like 1.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGCCAGGCTGGCGGGGCGAC	0.622000													16	136					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479936	4479936	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:4479936G>T	ENST00000237837.1	-	3	474	c.329C>A	c.(328-330)cCg>cAg	p.P110Q		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	110					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GCAGTTCTCCGGGTCGAAATA	0.607000													26	71					3.28513e-13	4.60731e-13	1	1	0
MUC16	94025	broad.mit.edu	37	19	9087985	9087985	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:9087985G>T	ENST00000397910.4	-	1	4033	c.3830C>A	c.(3829-3831)tCt>tAt	p.S1277Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1277	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGTGTAAGAGCCAGGTTT	0.483000													103	117					1.09269e-41	2.07978e-41	1	1	0
KCNG1	3755	broad.mit.edu	37	20	49620724	49620724	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr20:49620724C>A	ENST00000371571.4	-	3	1679	c.1394G>T	c.(1393-1395)cGc>cTc	p.R465L	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	465				R -> P (in Ref. 1; AAC05635).		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						CAGGTAGGAGCGGGAGAAGGT	0.617000													28	48					3.73988e-18	5.96538e-18	1	1	0
PCLO	27445	broad.mit.edu	37	7	82583881	82583881	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:82583881C>A	ENST00000423517.2	-	5	6725	c.6388G>T	c.(6388-6390)Gtt>Ttt	p.V2130F	PCLO_ENST00000333891.8_Missense_Mutation_p.V2130F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2061					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTATTTTAACATCTGGGATA	0.398000													44	26					5.20837e-25	9.32566e-25	1	1	0
CPN2	1370	broad.mit.edu	37	3	194062731	194062731	+	Missense_Mutation	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:194062731G>C	ENST00000323830.3	-	2	790	c.701C>G	c.(700-702)cCt>cGt	p.P234R	CPN2_ENST00000429275.1_Missense_Mutation_p.P234R	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	234					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GAACACCTGAGGGGGCAGCTC	0.602000													19	26					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201196294	201196294	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:201196294A>T	ENST00000335211.4	+	23	11201	c.11071A>T	c.(11071-11073)Acg>Tcg	p.T3691S	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCTGAGAACACGCTGGGCCA	0.637000													12	8					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232323096	232323096	+	Silent	SNP	T	T	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:232323096T>G	ENST00000322723.4	-	8	1410	c.1170A>C	c.(1168-1170)cgA>cgC	p.R390R		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	390					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTCTCGCATCTCGCTCTAGAT	0.408000													14	25					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613614	14613614	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:14613614C>T	ENST00000544627.1	+	9	2688	c.2368C>T	c.(2368-2370)Cca>Tca	p.P790S	ATF7IP_ENST00000540793.1_Missense_Mutation_p.P782S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P781S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P782S|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P781S|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	782	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACAGCCTTTGCCAGTGATTTT	0.483000													36	60					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51465633	51465633	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:51465633C>A	ENST00000522124.1	+	12	1365	c.704C>A	c.(703-705)gCt>gAt	p.A235D	SNTG1_ENST00000518864.1_Missense_Mutation_p.A235D|SNTG1_ENST00000517473.1_Missense_Mutation_p.A235D|SNTG1_ENST00000276467.5_Missense_Mutation_p.A235D	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	235					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.A235D(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAAGTCATTGCTGTGGATGGG	0.423000													23	68					1.1804e-14	1.7361e-14	1	1	0
CYP27A1	1593	broad.mit.edu	37	2	219676956	219676956	+	Missense_Mutation	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:219676956A>G	ENST00000258415.4	+	3	885	c.458A>G	c.(457-459)cAc>cGc	p.H153R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	153					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GAAGGACACCACTGGTACCAG	0.542000													27	27					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89847420	89847420	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:89847420G>A	ENST00000370456.4	+	7	1132	c.1039G>A	c.(1039-1041)Gac>Aac	p.D347N	GBP6_ENST00000535065.1_Missense_Mutation_p.D217N	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	347							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GCTCCCCACAGACACGCTCCA	0.567000													27	48					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54957025	54957025	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:54957025G>T	ENST00000173898.7	+	12	3980	c.3868G>T	c.(3868-3870)Ggt>Tgt	p.G1290C	TRO_ENST00000375041.2_Missense_Mutation_p.G893C|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G821C|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1290	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGATGGCTTTGGTGGTGGACT	0.597000													22	68					1.55795e-14	2.24761e-14	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52321303	52321303	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:52321303C>A	ENST00000356297.4	-	17	2981	c.2881G>T	c.(2881-2883)Gcc>Tcc	p.A961S	PXDNL_ENST00000543296.1_Missense_Mutation_p.A961S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	961					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCTCGTTGGCCCGGTGGTCC	0.662000													5	8					0.000602214	0.000632954	1	1	0
ARHGEF18	23370	broad.mit.edu	37	19	7523433	7523433	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:7523433C>T	ENST00000593531.1	+	12	1526	c.1526C>T	c.(1525-1527)tCa>tTa	p.S509L	ARHGEF18_ENST00000359920.6_Silent_p.L551L|ARHGEF18_ENST00000319670.9_Silent_p.L393L																							TACAAAAGCTCATCGTGAGGG	0.542000													15	10					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327388	52327388	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:52327388T>A	ENST00000339223.4	+	2	566	c.387T>A	c.(385-387)caT>caA	p.H129Q	FPR3_ENST00000595991.1_Missense_Mutation_p.H129Q	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	129					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GTGTCCTGCATCCAGCCTGGG	0.468000													27	39					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14591296	14591296	+	Splice_Site	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:14591296C>G	ENST00000393033.4	-	6	745	c.474_splice	c.e6-1	p.R159_splice	GIPC1_ENST00000393028.1_Splice_Site_p.R62_splice|GIPC1_ENST00000393029.3_Splice_Site_p.R62_splice|GIPC1_ENST00000586027.1_Splice_Site_p.R159_splice|GIPC1_ENST00000591349.1_Splice_Site_p.R62_splice|GIPC1_ENST00000345425.2_Splice_Site_p.R159_splice	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	159	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CTCCTTGATGCGCTGCGGGGG	0.682000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	16					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057661	27057661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:27057661C>T	ENST00000324856.7	+	3	1740	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q457*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q74*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	457					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTATGGACAACAAGGCCCCAG	0.498000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								60	174					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200353	123200353	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:123200353C>A	ENST00000528880.2	-	1	1086	c.932G>T	c.(931-933)cGc>cTc	p.R311L	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	311						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	CTGGAGGCAGCGGTTGATCAA	0.547000													6	41					0.000157383	0.000170154	1	1	0
ADH7	131	broad.mit.edu	37	4	100341690	100341690	+	Splice_Site	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr4:100341690C>T	ENST00000437033.2	-	6	1328	c.825_splice	c.e6+1	p.M275_splice	ADH7_ENST00000482593.1_Splice_Site_p.M218_splice|ADH7_ENST00000476959.1_Splice_Site_p.M295_splice|ADH7_ENST00000209665.4_Splice_Site_p.M287_splice			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	287					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TGGGTCTTACCATGGTTTCAA	0.383000													9	20					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123186899	123186899	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:123186899C>A	ENST00000328880.5	-	1	991	c.932G>T	c.(931-933)cGc>cTc	p.R311L	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	311			R -> C (in dbSNP:rs7314976).		negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	CTGGAGGCAGCGGTTGATCAA	0.552000													15	66					4.7546e-09	5.90092e-09	1	1	0
RBPJL	11317	broad.mit.edu	37	20	43945347	43945347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr20:43945347C>A	ENST00000343694.3	+	12	1374	c.1302C>A	c.(1300-1302)tgC>tgA	p.C434*	RBPJL_ENST00000372743.1_Nonsense_Mutation_p.C433*|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Missense_Mutation_p.R438S	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	434	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCCTGGTGTGCGTGGTGCCGG	0.731000													4	4					1	1	1	1	0
ZNF497	162968	broad.mit.edu	37	19	58868531	58868531	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:58868531G>T	ENST00000311044.3	-	3	659	c.471C>A	c.(469-471)agC>agA	p.S157R	ZNF497_ENST00000425453.3_Missense_Mutation_p.S157R|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCTTCTCGCCGCTGTGGATGC	0.672000													9	14					2.17888e-05	2.41328e-05	1	1	0
KRT38	8687	broad.mit.edu	37	17	39597093	39597093	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:39597093G>T	ENST00000246646.3	-	1	80	c.81C>A	c.(79-81)ccC>ccA	p.P27P		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	27	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CAATGTCGATGGGAGAGACAG	0.597000													22	44					3.62473e-10	4.63843e-10	1	1	0
SLC35G2	80723	broad.mit.edu	37	3	136573684	136573684	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:136573684C>T	ENST00000446465.2	+	2	1010	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	SLC35G2_ENST00000393079.3_Missense_Mutation_p.R128W|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	128	DUF6 1.					Golgi apparatus|integral to membrane											TGTTTCTGATCGGTCTAAAGT	0.403000													59	152					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11780549	11780549	+	Missense_Mutation	SNP	C	C	A	rs142935587		TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:11780549C>A	ENST00000381486.2	+	33	6119	c.5819C>A	c.(5818-5820)cCg>cAg	p.P1940Q	GREB1_ENST00000396123.1_Missense_Mutation_p.P938Q|GREB1_ENST00000234142.5_Missense_Mutation_p.P1940Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1940						integral to membrane		p.P1940L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAAGACCGGCCGCTCTTTTTT	0.597000													37	76					9.45814e-24	1.64159e-23	1	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209212620	209212620	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:209212620G>T	ENST00000264380.4	+	35	5405	c.5247G>T	c.(5245-5247)ggG>ggT	p.G1749G		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1749					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCTTCAGAGGGACAGCAGGGA	0.433000													20	13					2.94398e-08	3.56584e-08	1	1	0
SERPINA13P	388007	broad.mit.edu	37	14	95108233	95108233	+	RNA	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr14:95108233C>G	ENST00000469935.1	+	0	838					NR_015340.1																						ACATGCTCCTCAGAGGTAAGA	0.562000													28	31					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123164822	123164822	+	Translation_Start_Site	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:123164822A>T	ENST00000354548.5	+	0	277				STAG2_ENST00000371160.1_Missense_Mutation_p.K45N|STAG2_ENST00000371144.3_Missense_Mutation_p.K45N|STAG2_ENST00000371145.3_Missense_Mutation_p.K45N|STAG2_ENST00000371157.3_Missense_Mutation_p.K45N|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.K45N			Q8N3U4	STAG2_HUMAN	stromal antigen 2						cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTTGTAAAAAAGGCAAAAAGG	0.423000													21	70					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19544055	19544055	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:19544055C>A	ENST00000507958.1	-	11	2303	c.1313G>T	c.(1312-1314)gGg>gTg	p.G438V	CDH18_ENST00000382275.1_Missense_Mutation_p.G438V|CDH18_ENST00000502796.1_Missense_Mutation_p.G438V|CDH18_ENST00000506372.1_Missense_Mutation_p.G438V|CDH18_ENST00000511273.1_Missense_Mutation_p.G438V|CDH18_ENST00000274170.4_Missense_Mutation_p.G438V			Q13634	CAD18_HUMAN	cadherin 18, type 2	438	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G438A(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCTAATGGTCCCAGTATTGGC	0.353000													18	113					5.01169e-05	5.51043e-05	1	1	0
POTEF	728378	broad.mit.edu	37	2	130832386	130832386	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:130832386C>A	ENST00000357462.5	-	15	2752	c.2659G>T	c.(2659-2661)Gac>Tac	p.D887Y	POTEF_ENST00000409914.2_Missense_Mutation_p.D887Y			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	887	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATGAGGTAGTCAGGCAGTTCC	0.592000													7	18					5.18039e-06	5.85216e-06	1	1	0
CDH23	64072	broad.mit.edu	37	10	73553142	73553142	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:73553142C>A	ENST00000224721.6	+	47	6477	c.6472C>A	c.(6472-6474)Cct>Act	p.P2158T		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2153	Cadherin 20.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGCACCGTTCCTCTCTCGGG	0.597000													20	45					4.35082e-09	5.42953e-09	1	1	0
CADM3	57863	broad.mit.edu	37	1	159163344	159163344	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:159163344C>T	ENST00000368125.4	+	4	671	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	CADM3_ENST00000368124.4_Missense_Mutation_p.L206F	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	172	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TGACCAAGAACTCCACGGTGA	0.527000													12	39					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228482556	228482556	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:228482556A>T	ENST00000570156.2	+	48	12832	c.12758A>T	c.(12757-12759)gAg>gTg	p.E4253V	OBSCN_ENST00000366709.4_Missense_Mutation_p.E943V|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2671V|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3824V|OBSCN_ENST00000366707.4_Missense_Mutation_p.E943V|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3824V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3296	Ig-like 44.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCAATGTGAGCTGAGCAAG	0.592000													54	113					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141707867	141707867	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:141707867A>T	ENST00000389484.3	-	20	4044	c.3073T>A	c.(3073-3075)Tgt>Agt	p.C1025S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1025	LDL-receptor class A 7.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACCATCACAGGCCCAGTGG	0.443000										TSP Lung(27;0.18)			13	40					0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206738	49206738	+	Silent	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:49206738G>C	ENST00000425340.2	+	2	642	c.525G>C	c.(523-525)cgG>cgC	p.R175R	FUT2_ENST00000391876.4_Silent_p.R175R	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	175					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		ACCACGTGCGGGAGGAGGCCC	0.652000													4	36					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185712	92185712	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:92185712G>A	ENST00000212355.4	-	9	1616	c.1151C>T	c.(1150-1152)cCt>cTt	p.P384L	TGFBR3_ENST00000370399.2_Missense_Mutation_p.P383L|TGFBR3_ENST00000525962.1_Missense_Mutation_p.P384L	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	384					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTGCAGGGCAGGCAGGGCACC	0.557000													10	34					0	0	1	0	0
VSNL1	7447	broad.mit.edu	37	2	17773430	17773430	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:17773430G>T	ENST00000406397.1	+	2	614	c.89G>T	c.(88-90)tGg>tTg	p.W30L	VSNL1_ENST00000295156.4_Missense_Mutation_p.W30L|VSNL1_ENST00000404666.2_Missense_Mutation_p.W30L			P62760	VISL1_HUMAN	visinin-like 1	30	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCAAGCAGTGGTACAAAGGA	0.453000													36	98					1.836e-18	2.95982e-18	1	1	0
MROH2B	133558	broad.mit.edu	37	5	41005653	41005653	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:41005653C>A	ENST00000399564.4	-	35	4294	c.3844G>T	c.(3844-3846)Ggc>Tgc	p.G1282C	MROH2B_ENST00000506092.2_Missense_Mutation_p.G837C	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AAAGCTGCGCCGGTTATCCGG	0.542000													3	24					0.115264	0.116291	1	1	0
LRRC16A	55604	broad.mit.edu	37	6	25517621	25517621	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:25517621G>T	ENST00000329474.6	+	22	2220	c.1852G>T	c.(1852-1854)Gat>Tat	p.D618Y		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	618					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGGCTTTCAGGATATAGCTGT	0.318000													21	33					7.87624e-14	1.12909e-13	1	1	0
CARD18	59082	broad.mit.edu	37	11	105009615	105009615	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:105009615G>T	ENST00000530950.1	-	2	197	c.198C>A	c.(196-198)ccC>ccA	p.P66P	CARD18_ENST00000526823.1_Silent_p.P27P|CARD18_ENST00000532895.1_Silent_p.P27P	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	66	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						AGCAAGACTTGGGTCCTTTTC	0.413000													47	120					3.77016e-25	6.77731e-25	1	1	0
RASEF	158158	broad.mit.edu	37	9	85637336	85637336	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:85637336T>A	ENST00000376447.3	-	3	844	c.584A>T	c.(583-585)cAg>cTg	p.Q195L		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	195					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGCCTTGTCCTGGGCTCTGAA	0.413000													30	59					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38109218	38109218	+	Splice_Site	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr22:38109218G>A	ENST00000406386.3	+	5	511	c.254_splice	c.e5-1	p.G86_splice	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	86					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCTCCCAGGGGCCCATCCCC	0.642000													8	8					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132473342	132473342	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:132473342C>A	ENST00000370828.3	-	2	712	c.188G>T	c.(187-189)gGt>gTt	p.G63V	GPC4_ENST00000535467.1_5'UTR	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	63					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GCAGGTAGAACCCTGGGGACA	0.418000													21	53					7.45023e-12	1.00147e-11	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42360832	42360832	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr14:42360832G>A	ENST00000298119.4	+	4	2954	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	589						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCCAGTCCGTGTCCAAACA	0.463000										HNSCC(30;0.082)			18	68					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218747119	218747119	+	Missense_Mutation	SNP	T	T	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:218747119T>G	ENST00000171887.4	-	15	1339	c.887A>C	c.(886-888)gAg>gCg	p.E296A	TNS1_ENST00000419504.1_Missense_Mutation_p.E296A|TNS1_ENST00000430930.1_Missense_Mutation_p.E296A|TNS1_ENST00000310858.6_Missense_Mutation_p.E327A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	296	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTTGCCATACTCTGGAAATCG	0.333000													17	17					0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120354547	120354547	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:120354547C>A	ENST00000239032.2	-	2	348	c.210G>T	c.(208-210)gtG>gtT	p.V70V	PRLHR_ENST00000369169.1_Silent_p.V70V	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	70					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CCACGACCACCACGACGCTGT	0.672000													21	62					4.35082e-09	5.42953e-09	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77763469	77763469	+	Missense_Mutation	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:77763469C>G	ENST00000521891.2	+	10	4760	c.4312C>G	c.(4312-4314)Cag>Gag	p.Q1438E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1393E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1412E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1393E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1393						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCGTACATTCCAGGCTTTAAA	0.483000										HNSCC(33;0.089)			28	19					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114469662	114469662	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:114469662C>A	ENST00000513154.1	-	8	1719	c.1393G>T	c.(1393-1395)Gac>Tac	p.D465Y	TRIM36_ENST00000514154.1_Missense_Mutation_p.D322Y|TRIM36_ENST00000282369.3_Missense_Mutation_p.D477Y			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	477	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTTTCCAAGTCTTGAATTATT	0.368000													24	25					1.64293e-13	2.33307e-13	1	1	0
RPGR	6103	broad.mit.edu	37	X	38145170	38145170	+	Missense_Mutation	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:38145170C>G	ENST00000378505.2	-	15	3258	c.3082G>C	c.(3082-3084)Gag>Cag	p.E1028Q	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000338898.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	818					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tctccttcctccccttccacc	0.557000													4	8					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34118542	34118542	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:34118542G>T	ENST00000297161.2	+	13	1526	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	BMPER_ENST00000426693.1_Silent_p.G384G	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	384	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACTTTCAGGGGACGTGTCAGT	0.572000													30	159					1.88708e-17	2.96823e-17	1	1	0
ATXN7L2	127002	broad.mit.edu	37	1	110028744	110028744	+	Splice_Site	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:110028744G>T	ENST00000369870.3	+	2	208	c.193_splice	c.e2+1	p.D65_splice		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	65										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CATTAAAGAAGGTGGGAGTCG	0.552000													20	37					1.56452e-12	2.15419e-12	1	1	0
C1D	10438	broad.mit.edu	37	2	68270044	68270044	+	Missense_Mutation	SNP	T	T	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:68270044T>C	ENST00000355848.3	-	5	450	c.403A>G	c.(403-405)Aat>Gat	p.N135D	C1D_ENST00000410067.3_Missense_Mutation_p.N135D|C1D_ENST00000409302.1_Missense_Mutation_p.N135D|C1D_ENST00000407324.1_Missense_Mutation_p.N174D			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	135	Interaction with NCOR1 and NCOR2 (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						TTTCCTTTATTGGCAACTTTT	0.413000													11	14					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340429	55340429	+	Missense_Mutation	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:55340429G>C	ENST00000314634.3	+	1	826	c.826G>C	c.(826-828)Gga>Cga	p.G276R		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTATACAGTTGGAACATCTTT	0.393000													24	33					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119185742	119185742	+	Silent	SNP	C	C	T	rs147146316		TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:119185742C>T	ENST00000264036.4	-	3	215	c.201G>A	c.(199-201)aaG>aaA	p.K67K	MCAM_ENST00000530144.2_5'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	67	Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCCGCTTCTCCTTGTGGACCT	0.647000													5	63					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522229	157522229	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:157522229G>T	ENST00000346085.5	+	18	4502	c.4501G>T	c.(4501-4503)Gta>Tta	p.V1501L	ARID1B_ENST00000275248.4_Missense_Mutation_p.V1483L|ARID1B_ENST00000350026.5_Missense_Mutation_p.V1488L|ARID1B_ENST00000367148.1_Missense_Mutation_p.V1541L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1488	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGATATGATGGTACCCGATCA	0.572000													40	40					1.07121e-22	1.8381e-22	1	1	0
AGMO	392636	broad.mit.edu	37	7	15599877	15599877	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:15599877G>T	ENST00000342526.3	-	2	315	c.146C>A	c.(145-147)tCt>tAt	p.S49Y		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	49					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CAGCATCAAAGAAATGAAAAA	0.393000													45	47					2.47872e-24	4.36911e-24	1	1	0
RNF219	79596	broad.mit.edu	37	13	79191136	79191136	+	Missense_Mutation	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr13:79191136C>G	ENST00000282003.6	-	6	818	c.760G>C	c.(760-762)Gtt>Ctt	p.V254L	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	254							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGCTGTGCAACTTGAGATTCT	0.428000													26	35					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60587908	60587908	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr20:60587908T>A	ENST00000252996.3	-	3	1603	c.1604A>T	c.(1603-1605)cAg>cTg	p.Q535L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	535					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGCACTGGGCTGCACCGTTGT	0.572000													51	56					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241666333	241666333	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:241666333C>A	ENST00000498729.2	-	39	4278	c.4032G>T	c.(4030-4032)gcG>gcT	p.A1344A	KIF1A_ENST00000320389.7_Silent_p.A1243A	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1243					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGCTGTCCCACGCAGCCTCAA	0.537000													3	4					0.115264	0.116291	1	1	0
DST	667	broad.mit.edu	37	6	56422281	56422281	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:56422281C>T	ENST00000370754.5	-	59	14382	c.14383G>A	c.(14383-14385)Gat>Aat	p.D4795N	DST_ENST00000370769.4_Missense_Mutation_p.D4617N|DST_ENST00000361203.3_Missense_Mutation_p.D4615N|DST_ENST00000421834.2_Missense_Mutation_p.D2529N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.D2529N|DST_ENST00000244364.6_Missense_Mutation_p.D2203N|DST_ENST00000446842.2_Missense_Mutation_p.D4291N			Q03001	DYST_HUMAN	dystonin	4615					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTGTCTATCAATTGTTAAT	0.343000													12	37					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36137401	36137401	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:36137401C>A	ENST00000296603.4	-	5	973	c.511G>T	c.(511-513)Gta>Tta	p.V171L		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	171						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGGGTTTACAGCTACATAA	0.289000													60	42					5.7761e-15	8.60715e-15	1	1	0
ZNF335	63925	broad.mit.edu	37	20	44598228	44598228	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr20:44598228C>A	ENST00000322927.2	-	3	404	c.304G>T	c.(304-306)Ggt>Tgt	p.G102C	ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCTGGGGGACCGCCTGTCACC	0.612000											OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	24					3.1745e-13	4.46598e-13	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64434478	64434478	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr14:64434478G>T	ENST00000358025.3	+	11	1272	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.D348Y|SYNE2_ENST00000554584.1_Missense_Mutation_p.D348Y	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	348					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTCCTTTTTGGATGTCCTGTC	0.393000													24	56					1.1804e-14	1.7361e-14	1	1	0
RPH3A	22895	broad.mit.edu	37	12	113319606	113319606	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:113319606G>T	ENST00000389385.4	+	15	1778	c.1281G>T	c.(1279-1281)ttG>ttT	p.L427F	RPH3A_ENST00000420983.2_Missense_Mutation_p.L427F|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.L427F|RPH3A_ENST00000447659.2_Missense_Mutation_p.L378F|RPH3A_ENST00000415485.3_Missense_Mutation_p.L427F|RPH3A_ENST00000548866.1_Missense_Mutation_p.L378F|RPH3A_ENST00000551052.1_Missense_Mutation_p.L423F	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	427	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAAACGGCTTGGCTGATCCCT	0.607000													27	66					3.65163e-15	5.55097e-15	1	1	0
CEP78	84131	broad.mit.edu	37	9	80869758	80869758	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:80869758G>T	ENST00000424347.2	+	11	1547	c.1258G>T	c.(1258-1260)Ggt>Tgt	p.G420C	CEP78_ENST00000487108.2_Splice_Site|CEP78_ENST00000376598.2_Missense_Mutation_p.G420C|CEP78_ENST00000415759.2_Missense_Mutation_p.G421C|CEP78_ENST00000376597.4_Missense_Mutation_p.G421C|CEP78_ENST00000277082.5_Missense_Mutation_p.G420C			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	420					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TAAGCAACCAGGTTTTCCTGT	0.363000													21	33					2.37509e-13	3.36224e-13	1	1	0
ITGAX	3687	broad.mit.edu	37	16	31383808	31383808	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:31383808C>A	ENST00000268296.4	+	18	2391	c.2270C>A	c.(2269-2271)gCt>gAt	p.A757D	ITGAX_ENST00000562522.1_Missense_Mutation_p.A757D	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	757					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCGCCGATGCTCAGAGATAC	0.622000													16	27					2.23348e-06	2.55497e-06	1	1	0
BCHE	590	broad.mit.edu	37	3	165548395	165548395	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:165548395C>A	ENST00000264381.3	-	2	593	c.427G>T	c.(427-429)Ggt>Tgt	p.G143C	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	143			G -> D (in BChE deficiency).		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAACCACCACCATAAATCCAT	0.383000													19	64					4.96729e-08	5.96865e-08	1	1	0
ST18	9705	broad.mit.edu	37	8	53085061	53085061	+	Silent	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:53085061A>T	ENST00000276480.7	-	10	1043	c.360T>A	c.(358-360)tcT>tcA	p.S120S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	120						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTTGATAACAAGAGTATCTGT	0.353000													5	78					0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147007065	147007065	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:147007065C>A	ENST00000218200.8	+	3	341	c.112C>A	c.(112-114)Cct>Act	p.P38T	FMR1_ENST00000370470.1_Missense_Mutation_p.P38T|FMR1_ENST00000370475.4_Missense_Mutation_p.P38T|FMR1_ENST00000334557.6_Missense_Mutation_p.P38T|FMR1_ENST00000370477.1_Missense_Mutation_p.P38T|FMR1_ENST00000439526.2_Missense_Mutation_p.P38T|FMR1_ENST00000370471.3_Missense_Mutation_p.P38T	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	38					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTGGCAGCCTGATAGGCA	0.368000									Fragile X syndrome				23	66					5.35047e-06	6.02926e-06	1	1	0
ARMC5	79798	broad.mit.edu	37	16	31470938	31470938	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:31470938G>T	ENST00000457010.2	+	1	794	c.93G>T	c.(91-93)aaG>aaT	p.K31N	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000563544.1_Missense_Mutation_p.K31N|ARMC5_ENST00000408912.3_Missense_Mutation_p.K126N|ARMC5_ENST00000538189.1_Missense_Mutation_p.K63N|ARMC5_ENST00000268314.4_Missense_Mutation_p.K31N	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	31							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GTGGGGAAAAGGACCCAGCGA	0.711000													4	18					1.024e-07	1.22717e-07	1	1	0
TENM2	57451	broad.mit.edu	37	5	167379631	167379631	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:167379631C>A	ENST00000519204.1	+	3	506	c.388C>A	c.(388-390)Cct>Act	p.P130T	TENM2_ENST00000520394.1_Missense_Mutation_p.P60T|TENM2_ENST00000518659.1_Missense_Mutation_p.P251T|TENM2_ENST00000545108.1_Missense_Mutation_p.P251T|TENM2_ENST00000403607.2_Missense_Mutation_p.P84T|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000520393.1_3'UTR					teneurin transmembrane protein 2																		TCTGAGGCCCCCTCTCCCACC	0.567000													14	8					7.93312e-07	9.16761e-07	1	1	0
CCDC91	55297	broad.mit.edu	37	12	28458614	28458614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:28458614G>T	ENST00000545336.1	+	7	561	c.142G>T	c.(142-144)Gag>Tag	p.E48*	CCDC91_ENST00000381259.1_Nonsense_Mutation_p.E48*|CCDC91_ENST00000539107.1_Nonsense_Mutation_p.E48*|CCDC91_ENST00000381256.1_Nonsense_Mutation_p.E48*|CCDC91_ENST00000306172.5_Nonsense_Mutation_p.E18*|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	48					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ATCTTCTCCTGAGATTGTACT	0.403000													62	168					6.26901e-30	1.1735e-29	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140718615	140718615	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:140718615C>T	ENST00000394576.2	+	1	77	c.77C>T	c.(76-78)gCc>gTc	p.A26V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGAGGCCAGGGCCGGG	0.582000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	30					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67148047	67148047	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:67148047C>A	ENST00000371037.4	+	15	1387	c.1310C>A	c.(1309-1311)aCc>aAc	p.T437N	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.T441N	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	437	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCGGGGACCACCAGTGGTATG	0.622000													74	169					2.41437e-24	4.2723e-24	1	1	0
CYP4F24P	388514	broad.mit.edu	37	19	15882967	15882967	+	RNA	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:15882967C>G	ENST00000587443.2	-	0	710					NR_033864.1																						TGCCACTTGTCCTGGCCAGAG	0.577000													13	19					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98848691	98848691	+	RNA	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:98848691C>A	ENST00000554295.1	-	0	2232					NR_033801.1																						AGGCGGGTACCCTGGCTCGAA	0.562000													3	11					0.004672	0.00482099	1	1	0
NRK	203447	broad.mit.edu	37	X	105142675	105142675	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:105142675G>A	ENST00000428173.2	+	8	982	c.679G>A	c.(679-681)Gat>Aat	p.D227N	NRK_ENST00000243300.9_Missense_Mutation_p.D227N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	227	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GATTGACTGTGATGAGGACCC	0.408000										HNSCC(51;0.14)			4	13					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15875667	15875667	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:15875667G>A	ENST00000277632.3	-	8	912	c.692C>T	c.(691-693)tCt>tTt	p.S231F	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	231					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CCATACATTAGAAACAGCATG	0.313000													25	47					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44201894	44201894	+	Silent	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:44201894G>A	ENST00000260665.7	-	8	925	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	LRPPRC_ENST00000409946.1_Silent_p.L290L|LRPPRC_ENST00000409659.1_Silent_p.L290L	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	290					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACCTTCTCCAGAGTCTATAGA	0.348000													9	43					0	0	1	0	0
KCNIP3	30818	broad.mit.edu	37	2	96040128	96040128	+	Missense_Mutation	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:96040128C>G	ENST00000295225.5	+	3	401	c.266C>G	c.(265-267)aCc>aGc	p.T89S	KCNIP3_ENST00000468529.1_Missense_Mutation_p.T63S|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Missense_Mutation_p.T89S	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	89	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		ACCAAGTTCACCAAGAAGGAG	0.612000													7	27					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461869	5461869	+	Missense_Mutation	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:5461869A>G	ENST00000345221.3	-	4	2701	c.2147T>C	c.(2146-2148)cTg>cCg	p.L716P	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.L716P|NLRP1_ENST00000354411.3_Missense_Mutation_p.L716P|NLRP1_ENST00000577119.1_Missense_Mutation_p.L716P|NLRP1_ENST00000269280.4_Missense_Mutation_p.L716P|NLRP1_ENST00000572272.1_Missense_Mutation_p.L716P	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	716					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAGGGACTCCAGAGAGTGTGG	0.542000													40	87					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20043802	20043802	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:20043802C>A	ENST00000379651.3	-	8	1171	c.1153G>T	c.(1153-1155)Gca>Tca	p.A385S	MAP7D2_ENST00000543767.1_Missense_Mutation_p.A270S|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000452324.3_Missense_Mutation_p.A333S|MAP7D2_ENST00000443379.3_Missense_Mutation_p.A340S|MAP7D2_ENST00000379643.5_Missense_Mutation_p.A426S	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	385										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CATCTACCTGCGCTGTTTTCG	0.567000													65	56					2.50483e-33	4.72786e-33	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885796	88885796	+	Missense_Mutation	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:88885796A>G	ENST00000319675.3	-	1	500	c.404T>C	c.(403-405)cTg>cCg	p.L135P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	135										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAAGTGATTCAGTGAGGCCCA	0.557000													33	87					0	0	1	0	0
CABP1	9478	broad.mit.edu	37	12	121093846	121093846	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:121093846G>A	ENST00000453000.1	+	1	745	c.233G>A	c.(232-234)aGg>aAg	p.R78K	CABP1_ENST00000288616.3_Intron|CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	20	Poly-Ala.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGCTGGGCAGGGAGGTGACA	0.622000													4	14					0	0	1	0	0
SYNC	81493	broad.mit.edu	37	1	33160497	33160497	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:33160497T>A	ENST00000373484.3	-	2	1301	c.1202A>T	c.(1201-1203)cAa>cTa	p.Q401L	SYNC_ENST00000409190.3_Missense_Mutation_p.Q401L	NM_001161708.1	NP_001155180.1	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	401	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATCTCGTTTTTGCCTCACAAG	0.547000													123	271					0	0	1	0	0
KCTD10	83892	broad.mit.edu	37	12	109893952	109893952	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:109893952C>T	ENST00000228495.6	-	6	975	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	KCTD10_ENST00000540089.1_Missense_Mutation_p.V51I|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.V51I|KCTD10_ENST00000540411.1_Missense_Mutation_p.V206I	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	232					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GTGGCATAGACGATGGAGGTA	0.468000													4	57					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763349	77763349	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:77763349C>A	ENST00000521891.2	+	10	4640	c.4192C>A	c.(4192-4194)Cgc>Agc	p.R1398S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1353S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1372S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1353S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1353						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1398C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTACAAGTATCGCTGTAACCA	0.438000										HNSCC(33;0.089)			39	31					6.70999e-13	9.324e-13	1	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62688014	62688014	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:62688014C>A	ENST00000281156.4	-	4	718	c.440G>T	c.(439-441)cGt>cTt	p.R147L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATGACTCATACGTGAATAAGC	0.373000													20	59					1.01871e-10	1.3185e-10	1	1	0
MMP16	4325	broad.mit.edu	37	8	89209503	89209503	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:89209503C>A	ENST00000286614.6	-	2	446	c.165G>T	c.(163-165)ccG>ccT	p.P55P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	55					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGGGGTCAGTCGGTGGAAGGT	0.418000													14	31					6.72482e-11	8.77909e-11	1	1	0
LMOD2	442721	broad.mit.edu	37	7	123302237	123302237	+	Silent	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:123302237T>A	ENST00000458573.2	+	2	754	c.597T>A	c.(595-597)atT>atA	p.I199I	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	199						cytoskeleton	actin binding|tropomyosin binding										CTACAGTGATTGAGGACGCTT	0.433000													16	14					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95077288	95077288	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:95077288C>T	ENST00000545558.1	-	7	2111	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	NOL8_ENST00000358855.4_Missense_Mutation_p.R472H|NOL8_ENST00000535387.1_Missense_Mutation_p.R540H|NOL8_ENST00000542053.1_Missense_Mutation_p.R472H|NOL8_ENST00000442668.2_Missense_Mutation_p.R540H			Q76FK4	NOL8_HUMAN	nucleolar protein 8	540					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTCCGCAGGACGAATACACTG	0.502000													14	50					0	0	1	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17363074	17363074	+	Silent	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:17363074G>A	ENST00000377602.4	-	8	1074	c.1000C>T	c.(1000-1002)Ctg>Ttg	p.L334L		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	334					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTTTTACACAGTTCCACTGCA	0.443000													70	168					0	0	1	0	0
SMYD2	56950	broad.mit.edu	37	1	214491480	214491480	+	Nonsense_Mutation	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:214491480C>G	ENST00000366957.5	+	4	429	c.407C>G	c.(406-408)tCa>tGa	p.S136*	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Nonsense_Mutation_p.S136*	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	136	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GAGTTTGAATCACGTAAGTCT	0.458000													52	25					0	0	1	0	0
TMEM170B	100113407	broad.mit.edu	37	6	11575731	11575731	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:11575731G>T	ENST00000379426.1	+	3	336	c.336G>T	c.(334-336)tgG>tgT	p.W112C	TMEM170B_ENST00000543875.1_Missense_Mutation_p.W112C	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	112						integral to membrane				large_intestine(3)|lung(5)	8						CGCTGGTATGGGGCGTTGGAC	0.473000													38	87					4.14481e-20	6.87765e-20	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38109219	38109219	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr22:38109219G>T	ENST00000406386.3	+	5	512	c.257G>T	c.(256-258)gGc>gTc	p.G86V	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	86					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCTCCCAGGGGCCCATCCCCC	0.647000													8	8					0.000157383	0.000170154	1	1	0
APOB	338	broad.mit.edu	37	2	21229594	21229594	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:21229594C>A	ENST00000233242.1	-	26	10273	c.10146G>T	c.(10144-10146)gaG>gaT	p.E3382D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3382	LDL receptor binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGTGGTGCCCTCTAATTTGT	0.413000													51	111					6.31075e-24	1.10805e-23	1	1	0
CPSF1	29894	broad.mit.edu	37	8	145625643	145625643	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:145625643G>A	ENST00000349769.3	-	9	948	c.854C>T	c.(853-855)tCg>tTg	p.S285L		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	285					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTACAACAGCGAGTTGACGGC	0.622000													12	24					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324136	31324136	+	Missense_Mutation	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr18:31324136G>C	ENST00000269197.5	+	12	4324	c.4324G>C	c.(4324-4326)Ggg>Cgg	p.G1442R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAAAAATTCAGGGCCTCGAAA	0.468000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	70					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502819	20502819	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr14:20502819C>A	ENST00000315693.2	-	1	100	c.99G>T	c.(97-99)gtG>gtT	p.V33V		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCACGAAGACCACAGAGAATC	0.403000													16	48					6.72482e-11	8.77909e-11	1	1	0
TRPC4AP	26133	broad.mit.edu	37	20	33592273	33592273	+	Silent	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr20:33592273C>T	ENST00000252015.2	-	17	2126	c.2037G>A	c.(2035-2037)caG>caA	p.Q679Q	TRPC4AP_ENST00000432634.2_Silent_p.Q640Q|TRPC4AP_ENST00000539834.1_Silent_p.Q281Q|TRPC4AP_ENST00000451813.1_Silent_p.Q671Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	679					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGTCAGCGTCTGCACGTGGA	0.592000													7	3					0	0	1	0	0
RBM4	5936	broad.mit.edu	37	11	66411601	66411601	+	Nonstop_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:66411601T>A	ENST00000409406.1	+	2	1870	c.1093T>A	c.(1093-1095)Taa>Aaa	p.*365K	RBM4_ENST00000514361.3_Nonstop_Mutation_p.*340K|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_Nonstop_Mutation_p.*365K|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_Nonstop_Mutation_p.*365K|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_Nonstop_Mutation_p.*365K|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_Nonstop_Mutation_p.*340K					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CTCAGCCTTTTAAAGCTTGAG	0.577000													16	38					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40037050	40037050	+	Missense_Mutation	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr22:40037050C>G	ENST00000336649.4	+	8	919	c.919C>G	c.(919-921)Cgc>Ggc	p.R307G	CACNA1I_ENST00000400164.3_Missense_Mutation_p.R307G|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R307G|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R307G|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R307G|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R307G			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	307					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGGGCGGGGCGCCAGGACCT	0.617000													13	22					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080013	70080013	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr4:70080013G>T	ENST00000446444.1	-	1	436	c.428C>A	c.(427-429)tCa>tAa	p.S143*	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	143					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTCAAATCTTGACTCTTGTAG	0.373000													51	43					8.04919e-23	1.38642e-22	1	1	0
TRBV3-1	28619	broad.mit.edu	37	7	142008772	142008772	+	RNA	SNP	G	G	T	rs139140743	by1000genomes	TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:142008772G>T	ENST00000390387.3	+	0	292																											GTTCCAAATCGCTTCTCACCT	0.378000													74	48					1.26778e-28	2.33457e-28	1	1	0
NXF3	56000	broad.mit.edu	37	X	102338170	102338170	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:102338170G>T	ENST00000395065.3	-	6	673	c.572C>A	c.(571-573)cCc>cAc	p.P191H	NXF3_ENST00000425463.2_Missense_Mutation_p.P102H|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	191	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CACAAAGTGGGGTATGCCAGC	0.488000													30	68					7.01153e-11	9.12708e-11	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144940912	144940912	+	Silent	SNP	T	T	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:144940912T>C	ENST00000525985.1	-	2	6581	c.6510A>G	c.(6508-6510)aaA>aaG	p.K2170K				P58107	EPIPL_HUMAN	epiplakin 1	2170						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCACAGGTGTTTGTTGCTGG	0.517000													41	150					0	0	1	0	0
PRR15L	79170	broad.mit.edu	37	17	46030566	46030566	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:46030566A>T	ENST00000300557.2	-	2	285	c.35T>A	c.(34-36)tTc>tAc	p.F12Y	RP11-6N17.9_ENST00000582262.1_RNA	NM_024320.3	NP_077296.1	Q9BU68	PR15L_HUMAN	proline rich 15-like	12										NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						TTTCCGGAGGAAAGTCAGCTT	0.557000													35	75					0	0	1	0	0
TMEM87B	84910	broad.mit.edu	37	2	112849289	112849289	+	Splice_Site	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:112849289G>T	ENST00000283206.4	+	11	1402	c.1032_splice	c.e11-1	p.G345_splice	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	345						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TATCTTTCAGGGTTCTAACCA	0.303000													7	23					5.18039e-06	5.85216e-06	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167622	140167622	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:140167622C>A	ENST00000504120.2	+	1	1747	c.1747C>A	c.(1747-1749)Cga>Aga	p.R583R	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.R583R	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGCCGCGATTGGTGGG	0.662000													32	32					2.68265e-12	3.66036e-12	1	1	0
TENM2	57451	broad.mit.edu	37	5	167379632	167379632	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:167379632C>A	ENST00000519204.1	+	3	507	c.389C>A	c.(388-390)cCt>cAt	p.P130H	TENM2_ENST00000520394.1_Missense_Mutation_p.P60H|TENM2_ENST00000518659.1_Missense_Mutation_p.P251H|TENM2_ENST00000545108.1_Missense_Mutation_p.P251H|TENM2_ENST00000403607.2_Missense_Mutation_p.P84H|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000520393.1_3'UTR					teneurin transmembrane protein 2																		CTGAGGCCCCCTCTCCCACCC	0.572000													13	7					4.3838e-07	5.1182e-07	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	125834188	125834188	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:125834188C>A	ENST00000299308.3	+	2	251	c.243C>A	c.(241-243)ccC>ccA	p.P81P	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	81						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCAGGACACCCCCTATTATCA	0.498000													53	107					1.42923e-14	2.07513e-14	1	1	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862905	10862905	+	RNA	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr21:10862905G>T	ENST00000559480.1	+	0	201																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TTGAGTGGATGGGATTGGTGT	0.552000													23	284					3.90053e-15	5.8898e-15	1	1	0
RBP2	5948	broad.mit.edu	37	3	139180975	139180975	+	Missense_Mutation	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:139180975G>C	ENST00000232217.2	-	2	287	c.231C>G	c.(229-231)agC>agG	p.S77R	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	77					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	GGTTATCCAGGCTCTTTGTGT	0.428000													32	55					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100327860	100327860	+	Missense_Mutation	SNP	G	G	T	rs150146360		TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:100327860G>T	ENST00000294724.4	+	4	819	c.341G>T	c.(340-342)cGt>cTt	p.R114L	AGL_ENST00000361302.3_Missense_Mutation_p.R98L|AGL_ENST00000370161.2_Missense_Mutation_p.R98L|AGL_ENST00000361522.4_Missense_Mutation_p.R97L|AGL_ENST00000370163.3_Missense_Mutation_p.R114L|AGL_ENST00000361915.3_Missense_Mutation_p.R114L|AGL_ENST00000370165.3_Missense_Mutation_p.R114L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	114					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCCATTTTACGTGTTGGTGCT	0.378000													49	145					3.68337e-26	6.70108e-26	1	1	0
HECW1	23072	broad.mit.edu	37	7	43484469	43484469	+	Silent	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:43484469G>C	ENST00000395891.1	+	11	2303	c.1698G>C	c.(1696-1698)ctG>ctC	p.L566L	HECW1_ENST00000453890.1_Silent_p.L566L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	566					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCCACACCCTGCTGCACAGCA	0.697000													18	78					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3936274	3936274	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:3936274A>T	ENST00000381638.2	-	41	6731	c.6607T>A	c.(6607-6609)Tgc>Agc	p.C2203S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2203							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCCATGGAGCACGCCCAGTCC	0.577000													3	4					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45004682	45004682	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:45004682C>A	ENST00000258787.7	-	18	2524	c.2388G>T	c.(2386-2388)cgG>cgT	p.R796R		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	796						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GCTGCCGGGCCCGCCACCTGG	0.642000													56	52					4.96213e-28	9.10059e-28	1	1	0
NXPE1	120400	broad.mit.edu	37	11	114393049	114393049	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:114393049C>A	ENST00000536271.1	-	4	1676	c.433G>T	c.(433-435)Gac>Tac	p.D145Y	NXPE1_ENST00000424269.1_Missense_Mutation_p.D429Y|NXPE1_ENST00000251921.2_Missense_Mutation_p.D287Y					neurexophilin and PC-esterase domain family, member 1																		GTGTTTTTGTCACCTGATAGC	0.433000													41	43					7.53189e-24	1.31735e-23	1	1	0
FOXJ3	22887	broad.mit.edu	37	1	42645382	42645382	+	Nonstop_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:42645382T>A	ENST00000372572.1	-	15	2179	c.1868A>T	c.(1867-1869)tAg>tTg	p.*623L	FOXJ3_ENST00000545068.1_Nonstop_Mutation_p.*623L|FOXJ3_ENST00000372573.1_Nonstop_Mutation_p.*623L|FOXJ3_ENST00000361776.1_Nonstop_Mutation_p.*589L|FOXJ3_ENST00000361346.1_Nonstop_Mutation_p.*623L|FOXJ3_ENST00000372571.1_Nonstop_Mutation_p.*137L	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	0					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAACAAGCCCTACACAATTGA	0.468000													32	92					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62076693	62076693	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr20:62076693C>A	ENST00000354587.3	-	3	588	c.412G>T	c.(412-414)Ggc>Tgc	p.G138C	KCNQ2_ENST00000357249.2_Missense_Mutation_p.G138C|KCNQ2_ENST00000344462.3_Missense_Mutation_p.G138C|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G138C|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G138C|KCNQ2_ENST00000370221.1_Missense_Mutation_p.G138C|KCNQ2_ENST00000370222.3_Missense_Mutation_p.G138C|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G138C|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G138C|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G138C|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G138C|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G138C			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	138					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TACTCCACGCCAAACACCACG	0.647000													21	53					1.10513e-12	1.5263e-12	1	1	0
GPR125	166647	broad.mit.edu	37	4	22414882	22414882	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr4:22414882C>A	ENST00000334304.5	-	14	2424	c.2155G>T	c.(2155-2157)Ggg>Tgg	p.G719W	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	719	GPS.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATATGGCACCCATCTGACTTC	0.438000													55	73					4.65455e-14	6.69369e-14	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169507181	169507181	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:169507181T>A	ENST00000256935.8	+	50	5261	c.5181T>A	c.(5179-5181)caT>caA	p.H1727Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.H1219Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.H788Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1727					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGAAGCATGAGTTCATGA	0.527000													41	27					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41539168	41539168	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr21:41539168G>T	ENST00000400454.1	-	16	3472	c.2995C>A	c.(2995-2997)Cag>Aag	p.Q999K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	999	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGATGCTCTGAGATGATATA	0.512000													24	38					7.88262e-20	1.30322e-19	1	1	0
CREBRF	153222	broad.mit.edu	37	5	172539307	172539307	+	Splice_Site	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:172539307A>G	ENST00000540014.1	+	8	1932		c.e8-1		CREBRF_ENST00000296953.2_Splice_Site			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor								protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										TTCCTTTCACAGAGCTTGTCG	0.363000													42	26					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69646516	69646516	+	Missense_Mutation	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:69646516A>G	ENST00000370598.1	+	5	1795	c.974A>G	c.(973-975)cAc>cGc	p.H325R		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	325	TSP type-1 1.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TACGGGACACACTGCAGCGGC	0.498000													9	28					0	0	1	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328608	6328608	+	Silent	SNP	A	A	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:6328608A>C	ENST00000344545.5	+	1	260	c.13A>C	c.(13-15)Agg>Cgg	p.R5R	TPD52L3_ENST00000381428.1_Silent_p.R5R|TPD52L3_ENST00000314556.3_Silent_p.R5R	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	5							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GCCACATGCCAGGACAGAGAC	0.468000													32	73					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765344	66765344	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:66765344C>A	ENST00000374690.3	+	1	880	c.356C>A	c.(355-357)cCg>cAg	p.P119Q	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.P119Q|AR_ENST00000504326.1_Missense_Mutation_p.P119Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	117	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CCTTCACAGCCGCAGTCGGCC	0.672000									Androgen Insensitivity Syndrome				3	9					0.00024832	0.000265304	1	1	0
SOX6	55553	broad.mit.edu	37	11	16077320	16077320	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:16077320G>T	ENST00000352083.6	-	10	1306	c.1229C>A	c.(1228-1230)aCc>aAc	p.T410N	SOX6_ENST00000527619.1_Missense_Mutation_p.T372N|SOX6_ENST00000316399.6_Missense_Mutation_p.T410N|SOX6_ENST00000396356.3_Missense_Mutation_p.T410N|SOX6_ENST00000528252.1_Missense_Mutation_p.T369N|SOX6_ENST00000528429.1_Missense_Mutation_p.T410N			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	410					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TACAGGGCTGGTCCCTCTCTT	0.463000													21	25					6.33239e-15	9.40515e-15	1	1	0
ABHD16A	7920	broad.mit.edu	37	6	31660742	31660742	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:31660742C>A	ENST00000538874.1	-	6	650	c.393G>T	c.(391-393)tgG>tgT	p.W131C	ABHD16A_ENST00000395952.3_Intron|ABHD16A_ENST00000440843.2_Intron|XXbac-BPG32J3.20_ENST00000461287.1_Intron|ABHD16A_ENST00000375842.4_Intron			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	0						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GCGCCCACTCCCAGAGCACTC	0.498000													18	37					2.94398e-08	3.56584e-08	1	1	0
HGF	3082	broad.mit.edu	37	7	81381506	81381506	+	Silent	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:81381506C>T	ENST00000222390.5	-	5	781	c.555G>A	c.(553-555)ggG>ggA	p.G185G	HGF_ENST00000453411.1_Silent_p.G180G|HGF_ENST00000423064.2_Silent_p.G185G|HGF_ENST00000444829.2_Silent_p.G185G|HGF_ENST00000457544.2_Silent_p.G180G	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	185	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACCAGGGTCCCCCTTCTTCCC	0.448000													85	23					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85669587	85669587	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr15:85669587G>T	ENST00000310298.4	+	21	2487	c.2235G>T	c.(2233-2235)tcG>tcT	p.S745S	PDE8A_ENST00000339708.5_Silent_p.S699S|PDE8A_ENST00000394553.1_Silent_p.S745S|PDE8A_ENST00000557957.1_Silent_p.S673S			O60658	PDE8A_HUMAN	phosphodiesterase 8A	745	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CACGCATTTCGGAAGAATATT	0.433000													25	32					7.92952e-12	1.06274e-11	1	1	0
BHMT	635	broad.mit.edu	37	5	78416283	78416283	+	Silent	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:78416283G>A	ENST00000274353.5	+	4	503	c.396G>A	c.(394-396)aaG>aaA	p.K132K	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	132	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TTAGCTGCAAGAGTGAAACTG	0.443000													21	22					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021687	132021687	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:132021687G>T	ENST00000356920.5	+	15	2753	c.2659G>T	c.(2659-2661)Gac>Tac	p.D887Y	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	887	Actin-like.						ATP binding										GGAACTGCCTGACTACCTCAT	0.597000													22	176					1.64293e-13	2.33307e-13	1	1	0
PDZD4	57595	broad.mit.edu	37	X	153073937	153073937	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:153073937C>A	ENST00000164640.4	-	2	365	c.174G>T	c.(172-174)ggG>ggT	p.G58G	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	58						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGCTGTCCCCCCGGAGGC	0.652000													8	20					0.00307968	0.00319244	1	1	0
NEFM	4741	broad.mit.edu	37	8	24771353	24771353	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:24771353G>T	ENST00000221166.5	+	1	829	c.47G>T	c.(46-48)cGg>cTg	p.R16L	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.R16L|NEFM_ENST00000437366.2_Missense_Mutation_p.R16L			P07197	NFM_HUMAN	neurofilament, medium polypeptide	16	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCTACCGGCGGGTAACCGAG	0.701000													6	2					3.59834e-05	3.96605e-05	1	1	0
SNAPC4	6621	broad.mit.edu	37	9	139272416	139272416	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:139272416C>A	ENST00000298532.2	-	21	4231	c.3863G>T	c.(3862-3864)gGc>gTc	p.G1288V		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1288	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCCCCGCTGGCCCCCCAGCCA	0.706000													5	12					0.000602214	0.000632954	1	1	0
SOX7	83595	broad.mit.edu	37	8	10587895	10587895	+	Missense_Mutation	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:10587895G>C	ENST00000304501.1	-	1	127	c.49C>G	c.(49-51)Ccg>Gcg	p.P17A	CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000553390.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000554914.1_Intron	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	17					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TCCAGGGCCGGGCACTCGAGA	0.751000													5	9					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923437	9923437	+	Missense_Mutation	SNP	A	A	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:9923437A>C	ENST00000396573.2	-	10	2159	c.1850T>G	c.(1849-1851)gTg>gGg	p.V617G	GRIN2A_ENST00000562109.1_Missense_Mutation_p.V617G|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V617G|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V617G|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V617G|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V460G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	617					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|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)	CTGGACAGGCACGGAGTTATT	0.483000													23	24					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8207411	8207411	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr4:8207411G>T	ENST00000382521.3	+	3	390	c.320G>T	c.(319-321)tGg>tTg	p.W107L	SH3TC1_ENST00000539824.1_Intron|SH3TC1_ENST00000245105.3_Intron			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	0							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACAGTCCGATGGGTTTGGCCT	0.582000													5	6					0.184627	0.185858	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32638809	32638809	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr21:32638809C>T	ENST00000286827.3	-	5	951	c.480G>A	c.(478-480)atG>atA	p.M160I	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.M160I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	160					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCGCCGTCTCCATGAAAGTGG	0.512000													37	60					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100373332	100373332	+	RNA	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:100373332C>T	ENST00000542585.1	+	0	6214				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCTCCCAGATCCCTGGGGTCA	0.522000													80	20					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183667834	183667834	+	Silent	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:183667834T>A	ENST00000334444.6	-	21	3264	c.3024A>T	c.(3022-3024)gcA>gcT	p.A1008A	ABCC5_ENST00000265586.6_Silent_p.A1008A	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1008	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGAAGACTCCTGCGATCATTC	0.517000													17	34					0	0	1	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020674	33020674	+	RNA	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:33020674G>T	ENST00000565407.2	+	0	82				RP11-19N8.2_ENST00000567619.1_RNA																							GGAGTCTGGGGGAGGCTTGGT	0.567000													31	161					5.44703e-19	8.90795e-19	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72771778	72771778	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:72771778C>A	ENST00000261180.4	+	3	1153	c.1057C>A	c.(1057-1059)Cga>Aga	p.R353R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	353					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R353*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						taattaGGTACGATTATATGC	0.308000													14	20					1.49906e-05	1.6644e-05	1	1	0
PSKH1	5681	broad.mit.edu	37	16	67943379	67943379	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:67943379G>T	ENST00000291041.5	+	2	897	c.727G>T	c.(727-729)Gcc>Tcc	p.A243S		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	243	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CTTCGGCCTGGCCAGTGCTCG	0.557000													11	28					9.70103e-10	1.23791e-09	1	1	0
MPP2	4355	broad.mit.edu	37	17	41955176	41955176	+	Nonstop_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:41955176C>A	ENST00000269095.4	-	13	1962	c.1658G>T	c.(1657-1659)tGa>tTa	p.*553L	MPP2_ENST00000377184.3_Nonstop_Mutation_p.*570L|MPP2_ENST00000520305.1_Nonstop_Mutation_p.*414L|MPP2_ENST00000518766.1_Nonstop_Mutation_p.*598L|MPP2_ENST00000461854.1_Nonstop_Mutation_p.*577L|MPP2_ENST00000536246.1_Nonstop_Mutation_p.*542L|MPP2_ENST00000523501.1_Nonstop_Mutation_p.*542L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	0	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGAACAGGCTCAGTACACCCA	0.587000													23	85					4.26978e-12	5.77376e-12	1	1	0
SLITRK3	22865	broad.mit.edu	37	3	164905988	164905988	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:164905988G>T	ENST00000475390.1	-	2	3074	c.2631C>A	c.(2629-2631)ggC>ggA	p.G877G	SLITRK3_ENST00000241274.3_Silent_p.G877G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	877						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CACTACCACAGCCTCCCCCAG	0.562000										HNSCC(40;0.11)			32	53					1.39806e-14	2.0364e-14	1	1	0
ZNF711	7552	broad.mit.edu	37	X	84525058	84525058	+	Silent	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:84525058G>A	ENST00000360700.4	+	9	2038	c.1152G>A	c.(1150-1152)caG>caA	p.Q384Q	ZNF711_ENST00000276123.3_Silent_p.Q338Q|ZNF711_ENST00000542798.1_Silent_p.Q180Q|ZNF711_ENST00000373165.3_Silent_p.Q338Q|ZNF711_ENST00000395402.1_Silent_p.Q346Q			Q9Y462	ZN711_HUMAN	zinc finger protein 711	338					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAGCAGCACAGTACCTTCAAA	0.338000													19	61					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324783	31324783	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr18:31324783C>A	ENST00000269197.5	+	12	4971	c.4971C>A	c.(4969-4971)ccC>ccA	p.P1657P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACTTCATCCCAGGAATCTTG	0.433000													26	28					2.12542e-12	2.91762e-12	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196227563	196227563	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:196227563T>A	ENST00000367433.5	-	25	3001	c.2900A>T	c.(2899-2901)cAc>cTc	p.H967L	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.H991L|KCNT2_ENST00000367431.4_Missense_Mutation_p.H925L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	991						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			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						GCTGCGGTGGTGCCCTTGTTC	0.448000													45	27					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114757965	114757965	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr13:114757965C>A	ENST00000334062.7	-	22	2362	c.2241G>T	c.(2239-2241)atG>atT	p.M747I	RASA3_ENST00000389544.4_Missense_Mutation_p.M715I	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	747					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ACTCACCCTGCATCTTCTCCA	0.602000													5	5					2.0095e-06	2.31041e-06	1	1	0
HCN1	348980	broad.mit.edu	37	5	45262305	45262305	+	Silent	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:45262305C>G	ENST00000303230.4	-	8	2448	c.2391G>C	c.(2389-2391)gtG>gtC	p.V797V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	797						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCAGAGTGGACACCTCATGGG	0.637000													10	77					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57151419	57151419	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:57151419G>T	ENST00000535318.2	+	6	808	c.447G>T	c.(445-447)caG>caT	p.Q149H	CPNE2_ENST00000537605.1_Missense_Mutation_p.Q47H|CPNE2_ENST00000565874.1_Missense_Mutation_p.Q149H|CPNE2_ENST00000290776.8_Missense_Mutation_p.Q149H			Q96FN4	CPNE2_HUMAN	copine II	149	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCGCTGCCCAGGAGCTGTCCG	0.637000													5	5					0.00116845	0.0012196	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18254432	18254432	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:18254432G>T	ENST00000377369.2	+	4	837	c.564G>T	c.(562-564)ctG>ctT	p.L188L	SLC39A12_ENST00000377371.3_Silent_p.L188L|SLC39A12_ENST00000377374.4_Silent_p.L188L|SLC39A12_ENST00000539911.1_Silent_p.L54L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	188					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCAAAACGCTGCAGAAAAAAT	0.383000													14	47					2.61681e-11	3.46613e-11	1	1	0
ZCCHC18	644353	broad.mit.edu	37	X	103359390	103359390	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:103359390C>A	ENST00000537356.2	+	1	588	c.588C>A	c.(586-588)ctC>ctA	p.L196L	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	196							nucleic acid binding|zinc ion binding										AGCATCTTCTCAGGATGTATG	0.463000													8	34					0.000157383	0.000170154	1	1	0
BACH2	60468	broad.mit.edu	37	6	90660915	90660915	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:90660915C>A	ENST00000257749.4	-	7	1617	c.910G>T	c.(910-912)Gcg>Tcg	p.A304S	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.A304S|BACH2_ENST00000343122.3_Missense_Mutation_p.A304S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	304						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACATCCCCCGCTCTGTCCTTG	0.642000													19	18					5.35267e-07	6.21733e-07	1	1	0
SLC5A4	6527	broad.mit.edu	37	22	32630886	32630886	+	Missense_Mutation	SNP	C	C	T	rs142605490	byFrequency	TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr22:32630886C>T	ENST00000266086.4	-	8	870	c.859G>A	c.(859-861)Gct>Act	p.A287T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	287					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.A287T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACCACAAAGCTGTAATGGGC	0.473000													6	123					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19611205	19611205	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:19611205T>A	ENST00000361640.4	-	5	1219	c.679A>T	c.(679-681)Acc>Tcc	p.T227S		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	227					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGCCCAGGTATTCCCAAAG	0.572000													12	66					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915224	48915224	+	Missense_Mutation	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:48915224A>G	ENST00000294954.7	-	11	1733	c.1712T>C	c.(1711-1713)aTg>aCg	p.M571T	LHCGR_ENST00000405626.1_Missense_Mutation_p.M544T|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.M509T|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	571			M -> I (in FMPP).		male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GAGGATTGCCATTTTCTTAGC	0.378000													33	91					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22266064	22266064	+	Silent	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:22266064C>G	ENST00000379374.4	+	22	2809	c.2244C>G	c.(2242-2244)ctC>ctG	p.L748L	PHEX_ENST00000537599.1_3'UTR|PHEX_ENST00000535894.1_Silent_p.L651L|PHEX_ENST00000418858.3_Silent_p.L451L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	748					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CCTGCCGACTCTGGTAGCTGG	0.517000													17	26					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111185	7111185	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:7111185C>A	ENST00000306904.5	+	1	1021	c.834C>A	c.(832-834)tcC>tcA	p.S278S		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	278	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAGAGGCTCCCATCGAGAGC	0.657000													18	15					1.67942e-08	2.05061e-08	1	1	0
OTUD6B	51633	broad.mit.edu	37	8	92090845	92090845	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:92090845G>A	ENST00000285420.4	+	4	766	c.667G>A	c.(667-669)Gac>Aac	p.D223N	OTUD6B_ENST00000404789.3_Missense_Mutation_p.D92N	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	193	OTU.									endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			CCATGTGGAAGACTTTCTGCC	0.363000													3	10					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77245205	77245205	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:77245205C>A	ENST00000341514.6	+	4	1242	c.1087C>A	c.(1087-1089)Ctt>Att	p.L363I	ATP7A_ENST00000343533.5_Missense_Mutation_p.L363I|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	363					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CAGCTCATCTCTTCAGAAGAT	0.423000													86	196					9.46827e-25	1.68201e-24	1	1	0
SFSWAP	6433	broad.mit.edu	37	12	132281899	132281899	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:132281899G>A	ENST00000261674.4	+	16	2852	c.2711G>A	c.(2710-2712)cGc>cAc	p.R904H	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_Missense_Mutation_p.R956H	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	904	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGCCAGGAGCGCTCCAGGTAA	0.701000													14	28					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692141	20692141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr14:20692141C>A	ENST00000315519.2	+	1	351	c.273C>A	c.(271-273)taC>taA	p.Y91*		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AGATCTGGTACATTTCCTCCA	0.438000													26	44					4.26978e-12	5.77376e-12	1	1	0
GPRASP2	114928	broad.mit.edu	37	X	101971025	101971025	+	Missense_Mutation	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:101971025G>C	ENST00000543253.1	+	5	2147	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	GPRASP2_ENST00000535209.1_Missense_Mutation_p.E410Q|GPRASP2_ENST00000332262.5_Missense_Mutation_p.E410Q	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTGTGAATCTGAGCCAGGAAC	0.562000													25	94					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019916	56019916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:56019916G>T	ENST00000303059.3	+	1	241	c.241G>T	c.(241-243)Gag>Tag	p.E81*		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E81*(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTTGGTCATTGAGGATTCCTG	0.373000													14	70					1.38267e-23	2.39064e-23	1	1	0
WWC3	55841	broad.mit.edu	37	X	10106817	10106817	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:10106817G>T	ENST00000380861.4	+	21	3316	c.2925G>T	c.(2923-2925)gcG>gcT	p.A975A	WWC3_ENST00000454666.1_Silent_p.A975A	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	975										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ATCTCCAGGCGTCGAGAACAC	0.652000													3	11					1.23904e-05	1.37908e-05	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039277	11039277	+	RNA	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr21:11039277C>G	ENST00000470054.1	-	0	926									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTTGCTGCACAGTGATCTGG	0.393000													17	275					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6620184	6620184	+	Splice_Site	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:6620184C>A	ENST00000321612.6	-	3	620	c.470_splice	c.e3+1	p.W157_splice		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	157					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AATACATTACCATCCTGAGTT	0.453000													22	71					1.9806e-07	2.34872e-07	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54792322	54792322	+	Missense_Mutation	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:54792322C>G	ENST00000306858.7	+	4	742	c.626C>G	c.(625-627)aCa>aGa	p.T209R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	209										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CGAGTGCGAACAGTAAAAGGC	0.323000													13	50					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899570	233899570	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:233899570C>A	ENST00000233840.3	+	2	946	c.946C>A	c.(946-948)Cca>Aca	p.P316T		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	316							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCCGCGACCTCCAGCCCCTGA	0.687000													29	44					2.4375e-19	4.00068e-19	1	1	0
LOC93432	93432	broad.mit.edu	37	7	141833944	141833944	+	Missense_Mutation	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:141833944C>G	ENST00000477922.3	+	7	793	c.739C>G	c.(739-741)Ccc>Gcc	p.P247A	RP11-1220K2.2_ENST00000550469.2_Missense_Mutation_p.P247A																endometrium(1)|lung(5)	6						GGACGCTACCCCCACCGAGGT	0.542000													5	2					0	0	1	0	0
PAGE4	9506	broad.mit.edu	37	X	49597220	49597220	+	Missense_Mutation	SNP	C	C	A	rs149617129		TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:49597220C>A	ENST00000218068.6	+	4	338	c.259C>A	c.(259-261)Cct>Act	p.P87T	PAGE4_ENST00000376141.1_Missense_Mutation_p.P87T	NM_007003.2	NP_008934.1	O60829	GAGC1_HUMAN	P antigen family, member 4 (prostate associated)	87												Ovarian(276;0.236)					GAAGACTCCACCTAATCCTAA	0.388000													22	43					5.35356e-11	7.04989e-11	1	1	0
SLITRK1	114798	broad.mit.edu	37	13	84453905	84453905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr13:84453905G>A	ENST00000377084.2	-	1	2623	c.1738C>T	c.(1738-1740)Cag>Tag	p.Q580*		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	580	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCGTACAGCTGAGGGCAGATC	0.537000													14	10					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75191385	75191385	+	Silent	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:75191385C>T	ENST00000336926.6	-	12	1136	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	HIP1_ENST00000434438.2_Silent_p.K370K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	370					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACTTCTCATCCTTGTTCACAC	0.408000			T	PDGFRB	CMML								73	41					0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102792914	102792914	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr14:102792914A>T	ENST00000262236.5	+	2	888	c.533A>T	c.(532-534)cAg>cTg	p.Q178L	ZNF839_ENST00000558850.1_Missense_Mutation_p.Q178L|ZNF839_ENST00000559185.1_Missense_Mutation_p.Q178L|ZNF839_ENST00000442396.2_Missense_Mutation_p.Q294L	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	178						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GATGAAGATCAGAGGGAGAGG	0.443000													10	15					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535003	50535003	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr15:50535003G>T	ENST00000267845.3	-	12	1845	c.1443C>A	c.(1441-1443)tcC>tcA	p.S481S	HDC_ENST00000543581.1_Silent_p.S448S	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	481					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GGCTGGGTTGGGAAGTACAGT	0.557000													21	18					0.000229342	0.000247361	1	1	0
PLOD2	5352	broad.mit.edu	37	3	145789157	145789157	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:145789157C>A	ENST00000282903.5	-	18	2079	c.1902G>T	c.(1900-1902)atG>atT	p.M634I	PLOD2_ENST00000360060.3_Missense_Mutation_p.M613I|PLOD2_ENST00000461497.1_Missense_Mutation_p.M294I|PLOD2_ENST00000494950.1_Missense_Mutation_p.M579I|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	613					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CAACTTGCTTCATGTGGATAT	0.393000													30	58					5.45727e-16	8.40865e-16	1	1	0
MYO1G	64005	broad.mit.edu	37	7	45004683	45004683	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:45004683C>A	ENST00000258787.7	-	18	2523	c.2387G>T	c.(2386-2388)cGg>cTg	p.R796L		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	796						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGCCGGGCCCGCCACCTGGG	0.637000													57	51					3.84483e-29	7.10902e-29	1	1	0
AXDND1	126859	broad.mit.edu	37	1	179347826	179347826	+	Missense_Mutation	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:179347826G>C	ENST00000367618.3	+	5	816	c.429G>C	c.(427-429)aaG>aaC	p.K143N	AXDND1_ENST00000457238.2_Missense_Mutation_p.K143N|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	143										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTAGGGAGAAGGCAGTTTGTC	0.363000													14	46					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30860829	30860829	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr22:30860829G>T	ENST00000403066.1	-	9	748	c.465C>A	c.(463-465)cgC>cgA	p.R155R	SEC14L3_ENST00000415957.2_Silent_p.R155R|SEC14L3_ENST00000402286.1_Silent_p.R137R|SEC14L3_ENST00000401751.1_Silent_p.R155R|SEC14L3_ENST00000539629.1_Silent_p.R155R|SEC14L3_ENST00000540910.1_Silent_p.R137R|SEC14L3_ENST00000215812.4_Silent_p.R214R			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	214	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TAATTTTCCTGCGAGTGTCCT	0.448000													24	47					1.1804e-14	1.7361e-14	1	1	0
PRSS38	339501	broad.mit.edu	37	1	228033725	228033725	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:228033725G>T	ENST00000366757.3	+	5	821	c.797G>T	c.(796-798)gGc>gTc	p.G266V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	266	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGAGCTGGGGCCGAGGCTGC	0.507000													12	29					1.08611e-07	1.29475e-07	1	1	0
ARHGEF9	23229	broad.mit.edu	37	X	62857995	62857995	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:62857995C>A	ENST00000253401.6	-	10	2264	c.1464G>T	c.(1462-1464)caG>caT	p.Q488H	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.Q467H|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.Q435H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.Q386H|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.Q215H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	488					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AGACCTGCGACTGAGCGATGC	0.562000													5	12					1.23904e-05	1.37908e-05	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34123663	34123663	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:34123663C>T	ENST00000373381.4	-	27	4506	c.4330G>A	c.(4330-4332)Ggc>Agc	p.G1444S	CSMD2_ENST00000373380.1_Missense_Mutation_p.G317S|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1404						integral to membrane|plasma membrane	protein binding	p.G1404S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGGAGTCGCCGGCTTCCCAA	0.582000													20	70					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460637	106460637	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:106460637C>A	ENST00000261402.2	-	7	3308	c.1929G>T	c.(1927-1929)atG>atT	p.M643I		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	643							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCACATCATCCATGTCTGTGA	0.627000													30	96					1.74807e-11	2.32904e-11	1	1	0
GCK	2645	broad.mit.edu	37	7	44191933	44191933	+	Missense_Mutation	SNP	G	G	T	rs13306389		TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:44191933G>T	ENST00000403799.3	-	3	769	c.300C>A	c.(298-300)agC>agA	p.S100R	GCK_ENST00000345378.2_Missense_Mutation_p.S101R|GCK_ENST00000437084.1_Missense_Mutation_p.S100R|GCK_ENST00000395796.3_Missense_Mutation_p.S99R	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	100					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGGTCTTCACGCTCCACTGCC	0.627000													86	93					2.32385e-29	4.31436e-29	1	1	0
SMARCD2	6603	broad.mit.edu	37	17	61914970	61914970	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:61914970G>A	ENST00000448276.2	-	2	497	c.232C>T	c.(232-234)Cca>Tca	p.P78S	SMARCD2_ENST00000323347.10_Missense_Mutation_p.P30S|SMARCD2_ENST00000225742.9_Missense_Mutation_p.P3S	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	78	Pro-rich.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CGGTTCCCTGGTGACATGCCA	0.662000													3	23					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791208	237791208	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:237791208C>T	ENST00000366574.2	+	41	6585	c.6268C>T	c.(6268-6270)Cgg>Tgg	p.R2090W	RYR2_ENST00000360064.6_Missense_Mutation_p.R2088W|RYR2_ENST00000542537.1_Missense_Mutation_p.R2074W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2090	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTGCTCCATCGGCAGTATGA	0.562000													8	47					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190690	6190690	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:6190690C>A	ENST00000530810.1	-	1	948	c.867G>T	c.(865-867)ctG>ctT	p.L289L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGGGGTTCAGCATTGGTG	0.478000													27	20					8.58068e-18	1.35437e-17	1	1	0
PLEKHM1	9842	broad.mit.edu	37	17	43516990	43516990	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:43516990C>T	ENST00000430334.3	-	11	3045	c.2912G>A	c.(2911-2913)gGg>gAg	p.G971E	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.G882E|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	971					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TTCATACACCCCGTCTGCGAT	0.582000													12	25					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55568676	55568676	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:55568676G>A	ENST00000395445.1	-	36	5528	c.5134C>T	c.(5134-5136)Cct>Tct	p.P1712S	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.P908S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.P646S|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.P577S	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAGCTTCAGGGTCTGTACTT	0.473000										HNSCC(58;0.16)			5	6					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15695284	15695284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:15695284G>T	ENST00000380701.3	+	11	1595	c.1267G>T	c.(1267-1269)Gaa>Taa	p.E423*	CCDC171_ENST00000297641.3_Nonsense_Mutation_p.E423*	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	423								p.E423*(1)									TAACGTGAAAGAATTGGAATC	0.383000													31	83					2.47316e-13	3.49016e-13	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885795	88885795	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:88885795C>A	ENST00000319675.3	-	1	501	c.405G>T	c.(403-405)ctG>ctT	p.L135L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	135										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCAAGTGATTCAGTGAGGCCC	0.562000													35	90					3.11337e-16	4.83e-16	1	1	0
OR5T3	390154	broad.mit.edu	37	11	56019918	56019918	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:56019918G>T	ENST00000303059.3	+	1	243	c.243G>T	c.(241-243)gaG>gaT	p.E81D		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGGTCATTGAGGATTCCTGGC	0.368000													14	68					7.53681e-25	1.34416e-24	1	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12856013	12856013	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:12856013C>A	ENST00000332296.7	+	4	1396	c.1293C>A	c.(1291-1293)acC>acA	p.T431T	PRAMEF1_ENST00000400814.3_Silent_p.T186T	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	431										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATCTTCACCCCACTTCGGG	0.567000													18	257					1.39806e-14	2.0364e-14	1	1	0
OAS3	4940	broad.mit.edu	37	12	113379695	113379695	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:113379695A>T	ENST00000551007.1	+	2	585	c.498A>T	c.(496-498)aaA>aaT	p.K166N	OAS3_ENST00000548514.1_Intron|OAS3_ENST00000546638.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000228928.7_Intron			Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	0	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TTGGGGGCAAAAGATCATTGG	0.547000													24	50					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48933296	48933296	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:48933296G>T	ENST00000356463.3	-	9	1074	c.636C>A	c.(634-636)tcC>tcA	p.S212S	WDR45_ENST00000553851.1_Silent_p.S109S|WDR45_ENST00000485908.1_Silent_p.S176S|WDR45_ENST00000396681.4_Silent_p.S211S|WDR45_ENST00000473974.1_Silent_p.S211S|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000376358.3_Silent_p.S109S|WDR45_ENST00000376368.2_Silent_p.S212S|WDR45_ENST00000376372.3_Silent_p.S211S|WDR45_ENST00000322995.8_Silent_p.S222S	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	211					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						TACCCTTCTGGGAGGCTGAGG	0.562000													8	34					0.000157383	0.000170154	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133901747	133901747	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:133901747G>A	ENST00000361069.4	+	2	582	c.449G>A	c.(448-450)cGc>cAc	p.R150H	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	150	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ATCTACAAGCGCAGCCGCGCC	0.642000													3	41					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51250712	51250712	+	Silent	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr15:51250712C>G	ENST00000261842.5	+	14	1678	c.1572C>G	c.(1570-1572)ctC>ctG	p.L524L	AP4E1_ENST00000560508.1_Silent_p.L449L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	524					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ATTCCTACCTCTTAGATAAGG	0.328000													17	15					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89180161	89180161	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:89180161C>A	ENST00000286614.6	-	4	727	c.446G>T	c.(445-447)cGt>cTt	p.R149L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	149					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						AATAGCTTTACGAGTCTCAGG	0.378000													23	46					9.57634e-11	1.243e-10	1	1	0
GRASP	160622	broad.mit.edu	37	12	52407514	52407514	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:52407514C>A	ENST00000293662.4	+	5	578	c.498C>A	c.(496-498)atC>atA	p.I166I	GRASP_ENST00000380039.2_Silent_p.I23I|GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_Silent_p.I23I	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	166	PDZ.					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TGGAAGGCATCCGGCATCGAG	0.552000													27	79					1.12875e-08	1.3857e-08	1	1	0
ZNHIT1	10467	broad.mit.edu	37	7	100866969	100866969	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:100866969G>A	ENST00000305105.2	+	4	817	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	97							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTGTGGCCGAGGGCCCTAA	0.672000													57	24					0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55019245	55019245	+	Silent	SNP	T	T	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:55019245T>C	ENST00000301202.2	+	3	332	c.210T>C	c.(208-210)gaT>gaC	p.D70D	LAIR2_ENST00000351841.2_Silent_p.D70D	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	70	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		AGTACAAAGATAGTTATAATG	0.512000													35	40					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3288187	3288187	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:3288187C>A	ENST00000382004.3	-	8	1106	c.795G>T	c.(793-795)ctG>ctT	p.L265L	RFX3_ENST00000302303.1_Silent_p.L265L|RFX3_ENST00000358730.2_Silent_p.L265L	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	265					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TGTCTTCTTGCAGACGATTAA	0.388000													30	58					1.39806e-14	2.0364e-14	1	1	0
MMP21	118856	broad.mit.edu	37	10	127462520	127462520	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:127462520C>A	ENST00000368808.3	-	2	576	c.577G>T	c.(577-579)Gac>Tac	p.D193Y		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	193					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CGCCGCTGGTCGGCCACGGAC	0.726000													7	4					2.0095e-06	2.31041e-06	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22363521	22363521	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:22363521C>A	ENST00000397121.2	-	3	1315	c.998G>T	c.(997-999)gGa>gTa	p.G333V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G333V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGGTTTCTCTCCAGCATGAAT	0.403000													7	76					9.16793e-09	1.12855e-08	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922725	24922725	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr15:24922725G>T	ENST00000329468.2	+	1	2185	c.1711G>T	c.(1711-1713)Gta>Tta	p.V571L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACAGACTGCGGTAGACCCTGA	0.483000													45	63					1.02687e-29	1.91428e-29	1	1	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493000													6	50					0	0	1	0	0
HMGN5	79366	broad.mit.edu	37	X	80370643	80370643	+	Silent	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:80370643T>A	ENST00000358130.2	-	7	682	c.354A>T	c.(352-354)gcA>gcT	p.A118A	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	118					chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	chromatin binding|DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						ctgctgccactgcttctttct	0.368000													5	9					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60469302	60469302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:60469302G>T	ENST00000450662.2	+	6	498	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	EFCAB3_ENST00000305286.3_Nonsense_Mutation_p.E91*	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	91							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TGTCTATAATGAATTGAAATG	0.348000													37	107					1.06647e-15	1.63214e-15	1	1	0
ENPP2	5168	broad.mit.edu	37	8	120581547	120581547	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:120581547G>T	ENST00000427067.2	-	22	2224	c.2044C>A	c.(2044-2046)Ccg>Acg	p.P682T	ENPP2_ENST00000259486.6_Missense_Mutation_p.P713T|ENPP2_ENST00000522826.1_Missense_Mutation_p.P686T|ENPP2_ENST00000075322.6_Missense_Mutation_p.P661T|ENPP2_ENST00000522167.1_Missense_Mutation_p.P296T			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	661					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTGAAACTCGGAGAAACACGG	0.502000													35	87					3.90053e-15	5.8898e-15	1	1	0
RSPRY1	89970	broad.mit.edu	37	16	57243045	57243045	+	Silent	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:57243045A>T	ENST00000537866.1	+	4	1335	c.462A>T	c.(460-462)ccA>ccT	p.P154P	RSPRY1_ENST00000394420.4_Silent_p.P154P			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	154						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGGAAGATCCACTGGGACCAG	0.348000													61	68					0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113819796	113819796	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:113819796G>A	ENST00000393200.2	+	4	372	c.211G>A	c.(211-213)Ggg>Agg	p.G71R	IL36RN_ENST00000346807.3_Missense_Mutation_p.G71R	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	71						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCTGTCATGTGGGGTGGGGCA	0.627000													11	40					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115216366	115216366	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:115216366G>T	ENST00000369538.3	-	14	2113	c.2066C>A	c.(2065-2067)cCc>cAc	p.P689H	AMPD1_ENST00000353928.6_Missense_Mutation_p.P660H|AMPD1_ENST00000520113.2_Missense_Mutation_p.P693H	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	660					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	TTCCATTAGGGGCTCCTGCAG	0.373000													16	24					3.41278e-10	4.39202e-10	1	1	0
TNFAIP3	7128	broad.mit.edu	37	6	138202310	138202310	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:138202310A>T	ENST00000237289.4	+	9	2293	c.2227A>T	c.(2227-2229)Atg>Ttg	p.M743L		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	743	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CAACCAGAGGATGGGCCCTGG	0.662000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								34	29					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221057636	221057636	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:221057636G>T	ENST00000366903.6	+	4	2558	c.1057G>T	c.(1057-1059)Ggt>Tgt	p.G353C	HLX_ENST00000549319.1_Missense_Mutation_p.G139C	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	353					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GAAGCCATCAGGTGGAGCCCC	0.647000													10	22					0.00621372	0.0063973	1	1	0
GALR1	2587	broad.mit.edu	37	18	74980827	74980827	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr18:74980827C>T	ENST00000299727.3	+	3	1019	c.1019C>T	c.(1018-1020)aCc>aTc	p.T340I		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	340					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGAATAGACACCCCACCATCA	0.373000													22	70					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600186	29600186	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr13:29600186G>T	ENST00000431530.3	+	1	1439	c.1381G>T	c.(1381-1383)Gat>Tat	p.D461Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	451						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAAGCCCTTGGATGTCATTGA	0.483000													16	21					1.02788e-11	1.37354e-11	1	1	0
PCDHA5	56143	broad.mit.edu	37	5	140202139	140202139	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:140202139T>A	ENST00000529859.1	+	1	779	c.779T>A	c.(778-780)gTt>gAt	p.V260D	PCDHA5_ENST00000378126.3_Missense_Mutation_p.V260D|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V260D|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACATTAGTTATTAAACTG	0.338000													36	32					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38964892	38964892	+	Splice_Site	SNP	A	A	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:38964892A>C	ENST00000357387.3	-	16	1431		c.e16+1		RICTOR_ENST00000296782.5_Splice_Site	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2						actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCTGATACTTACAGTCTCTTT	0.323000													15	75					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371559	76371559	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:76371559C>A	ENST00000407242.2	-	3	1320	c.1078G>T	c.(1078-1080)Ggc>Tgc	p.G360C	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.G360C|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.G360C	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	360						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGCAGGGAGCCTAAGCGCCGG	0.607000													13	21					1.5842e-08	1.93957e-08	1	1	0
MAGEA5	4104	broad.mit.edu	37	X	151284180	151284180	+	RNA	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:151284180G>T	ENST00000509345.2	-	0	231																											GCTCCTCTAGGGCCTCCTGGG	0.532000													22	32					5.45024e-15	8.17536e-15	1	1	0
HHIPL2	79802	broad.mit.edu	37	1	222712029	222712029	+	Missense_Mutation	SNP	T	T	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:222712029T>C	ENST00000343410.6	-	5	1596	c.1538A>G	c.(1537-1539)aAt>aGt	p.N513S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	513					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCCATTGAGATTTGGGGATTC	0.428000													15	46					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901127	123901127	+	Silent	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:123901127T>A	ENST00000431524.1	+	1	831	c.798T>A	c.(796-798)gcT>gcA	p.A266A		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		CCAGGAAAGCTGTGGATGGAG	0.527000													53	35					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118165981	118165981	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:118165981A>T	ENST00000369448.3	+	2	738	c.491A>T	c.(490-492)aAc>aTc	p.N164I		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	164										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AACGGGAAGAACGTGGAGCTG	0.493000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			15	78					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52504893	52504893	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:52504893G>T	ENST00000345716.4	+	4	513	c.379G>T	c.(379-381)Gcg>Tcg	p.A127S	NISCH_ENST00000488380.1_Missense_Mutation_p.A127S|NISCH_ENST00000420808.2_Missense_Mutation_p.A127S|NISCH_ENST00000479054.1_Missense_Mutation_p.A127S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	127	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGGCATCACCGCGGCACTGGC	0.512000													33	59					4.11147e-13	5.74845e-13	1	1	0
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	rs137852790		TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:7578475G>A	ENST00000420246.2	-	5	587	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000269305.4_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTGCCGGGCGGGGGTGTGGA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	19					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43280019	43280019	+	Splice_Site	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:43280019G>T	ENST00000374518.4	+	2	239		c.e2+1			NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTTTCACAGGTATGTTAGGC	0.473000													24	88					5.61819e-17	8.80636e-17	1	1	0
NHS	4810	broad.mit.edu	37	X	17743770	17743770	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:17743770G>T	ENST00000380060.3	+	6	1819	c.1481G>T	c.(1480-1482)gGg>gTg	p.G494V	NHS_ENST00000398097.3_Missense_Mutation_p.G338V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	494						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AATAGAGGTGGGGATGCTGAG	0.512000													39	54					3.62531e-18	5.80305e-18	1	1	0
KCNA1	3736	broad.mit.edu	37	12	5021199	5021199	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:5021199G>T	ENST00000382545.3	+	2	1762	c.655G>T	c.(655-657)Gac>Tac	p.D219Y	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	219					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCTTCACAGACCCCTTCTT	0.547000													22	52					4.35082e-09	5.42953e-09	1	1	0
C2orf50	130813	broad.mit.edu	37	2	11273691	11273691	+	Silent	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:11273691G>A	ENST00000381585.3	+	1	513	c.231G>A	c.(229-231)gaG>gaA	p.E77E	C2orf50_ENST00000405022.3_Silent_p.E77E			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	77										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		AGCTCCTGGAGGCCGAGCGGC	0.682000													6	12					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35928844	35928844	+	Missense_Mutation	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:35928844A>G	ENST00000374694.1	-	1	1518	c.1514T>C	c.(1513-1515)gTg>gCg	p.V505A		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	505					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GAAGAGGGACACGAAGCCGGC	0.627000													5	39					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62200805	62200805	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr20:62200805C>A	ENST00000467148.1	-	4	853	c.784G>T	c.(784-786)Gtg>Ttg	p.V262L		NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TGTAGCAGCACCGGCCGGCGG	0.672000													7	22					0.00448238	0.00463589	1	1	0
MAD2L1BP	9587	broad.mit.edu	37	6	43608008	43608008	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:43608008G>T	ENST00000451025.2	+	4	869	c.659G>T	c.(658-660)cGc>cTc	p.R220L	MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.R188L	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	188					mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding			breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GCTTGTTTGCGCCGTCTCTTC	0.587000													9	25					3.09899e-07	3.63689e-07	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81746469	81746469	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:81746469C>A	ENST00000356860.3	-	6	755	c.417G>T	c.(415-417)gaG>gaT	p.E139D	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E139D|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.E139D	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	139						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGCTGCCTGGCTCACTGTCAT	0.348000													55	24					2.84144e-21	4.78502e-21	1	1	0
ITGAD	3681	broad.mit.edu	37	16	31427951	31427951	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:31427951G>A	ENST00000389202.2	+	20	2532	c.2483G>A	c.(2482-2484)cGg>cAg	p.R828Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	828					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCGCACCGACGGGTGTCAGGA	0.582000													19	41					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761932	55761932	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:55761932G>T	ENST00000278409.1	-	1	169	c.170C>A	c.(169-171)aCa>aAa	p.T57K		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ATACATGGGTGTGTGAAGCTG	0.403000													15	49					6.72482e-11	8.77909e-11	1	1	0
BZRAP1	9256	broad.mit.edu	37	17	56389368	56389368	+	Silent	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:56389368G>A	ENST00000355701.3	-	17	3684	c.2814C>T	c.(2812-2814)ggC>ggT	p.G938G	BZRAP1_ENST00000343736.4_Silent_p.G938G|BZRAP1_ENST00000268893.6_Silent_p.G878G	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	938	Fibronectin type-III 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATAGGGTGTGCCAGGCCGTA	0.637000													22	35					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19628912	19628912	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr21:19628912G>A	ENST00000299295.2	+	2	557	c.166G>A	c.(166-168)Gag>Aag	p.E56K	CHODL_ENST00000338326.3_Missense_Mutation_p.E15K|CHODL_ENST00000400128.1_Missense_Mutation_p.E15K|CHODL_ENST00000400135.1_Missense_Mutation_p.E15K|CHODL_ENST00000543733.1_Missense_Mutation_p.E37K|CHODL_ENST00000400127.1_Missense_Mutation_p.E15K|CHODL_ENST00000400131.1_Missense_Mutation_p.E15K	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	56	C-type lectin.			E -> G (in Ref. 2; AAP43902).	muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GAGCTTTCAGGAGGCACGCCT	0.468000													20	36					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113235730	113235730	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:113235730G>T	ENST00000529221.1	+	21	2095	c.1990G>T	c.(1990-1992)Gtg>Ttg	p.V664L	TTC12_ENST00000483239.2_Missense_Mutation_p.V670L|TTC12_ENST00000314756.3_Missense_Mutation_p.V664L|TTC12_ENST00000393020.1_Intron	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	664							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAAGACGGCCGTGCAGGTGAA	0.562000													15	37					0.000422831	0.000448578	1	1	0
ATXN2	6311	broad.mit.edu	37	12	111956183	111956183	+	Silent	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:111956183G>A	ENST00000377617.3	-	9	1676	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	ATXN2_ENST00000389153.4_Silent_p.S240S|ATXN2_ENST00000550104.1_Silent_p.S505S|ATXN2_ENST00000542287.2_Silent_p.S240S|ATXN2_ENST00000535949.1_Silent_p.S216S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	505					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CACTTCCCCAGGATATGACTT	0.428000													33	79					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117033102	117033102	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:117033102A>T	ENST00000371876.1	-	6	4005	c.1584T>A	c.(1582-1584)gaT>gaA	p.D528E	KLHL13_ENST00000262820.3_Missense_Mutation_p.D579E|KLHL13_ENST00000371882.1_Missense_Mutation_p.D528E|KLHL13_ENST00000469946.1_Missense_Mutation_p.D528E|KLHL13_ENST00000541812.1_Missense_Mutation_p.D563E|KLHL13_ENST00000371878.1_Missense_Mutation_p.D528E|KLHL13_ENST00000545703.1_Missense_Mutation_p.D537E|KLHL13_ENST00000540167.1_Missense_Mutation_p.D563E|KLHL13_ENST00000539496.1_Missense_Mutation_p.D582E			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	579					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CGACCCCAACATCACTCTGCC	0.423000													61	140					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229853	87229853	+	Missense_Mutation	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:87229853A>G	ENST00000297524.3	-	3	1128	c.1025T>C	c.(1024-1026)cTa>cCa	p.L342P	SLC7A13_ENST00000419776.2_Missense_Mutation_p.L333P	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	342						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGTGACAAGTAGTAGCACAGC	0.348000													75	72					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110631194	110631194	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:110631194C>A	ENST00000399066.3	-	2	1022	c.295G>T	c.(295-297)Ggc>Tgc	p.G99C	SYBU_ENST00000528331.1_5'UTR|SYBU_ENST00000533895.1_Missense_Mutation_p.G101C|SYBU_ENST00000528647.1_Missense_Mutation_p.G101C|SYBU_ENST00000440310.1_Missense_Mutation_p.G102C|SYBU_ENST00000419099.1_Missense_Mutation_p.G101C|SYBU_ENST00000433638.1_Missense_Mutation_p.G102C|SYBU_ENST00000276646.9_Missense_Mutation_p.G102C|SYBU_ENST00000408889.3_5'UTR|SYBU_ENST00000446070.2_Missense_Mutation_p.G101C|SYBU_ENST00000422135.1_Missense_Mutation_p.G102C|SYBU_ENST00000532779.1_Missense_Mutation_p.G34C|SYBU_ENST00000533065.1_5'UTR|SYBU_ENST00000424158.2_Missense_Mutation_p.G107C|SYBU_ENST00000533171.1_Missense_Mutation_p.G102C|SYBU_ENST00000408908.2_Missense_Mutation_p.G102C	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	102	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GGGCAAAAGCCAATGGGGCTG	0.473000													34	76					6.00712e-18	9.54816e-18	1	1	0
PI4KA	5297	broad.mit.edu	37	22	21161738	21161738	+	Silent	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr22:21161738G>A	ENST00000255882.6	-	10	1166	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	PI4KA_ENST00000572273.1_Silent_p.P302P	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	302					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-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)			GATCAGCACTGGGGTTGGCCT	0.517000													13	18					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77193733	77193733	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr18:77193733G>A	ENST00000253506.5	+	3	1750	c.1381G>A	c.(1381-1383)Gtg>Atg	p.V461M	NFATC1_ENST00000591814.1_Missense_Mutation_p.V461M|NFATC1_ENST00000318065.5_Missense_Mutation_p.V448M|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000592223.1_Missense_Mutation_p.V448M|NFATC1_ENST00000587635.1_Missense_Mutation_p.V461M|NFATC1_ENST00000586434.1_Missense_Mutation_p.V448M|NFATC1_ENST00000427363.2_Missense_Mutation_p.V461M|NFATC1_ENST00000542384.1_Missense_Mutation_p.V461M|NFATC1_ENST00000329101.4_Missense_Mutation_p.V448M	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	461	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		ACACCCCATCGTGCAGGTAGG	0.617000													14	67					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782813	54782813	+	Missense_Mutation	SNP	C	C	A	rs141001610	byFrequency	TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:54782813C>A	ENST00000391748.1	-	6	936	c.809G>T	c.(808-810)cGg>cTg	p.R270L	LILRB2_ENST00000391746.1_Missense_Mutation_p.R270L|LILRB2_ENST00000434421.1_Missense_Mutation_p.R154L|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270L|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270L	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	270	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGCTGCCGGCCAGGGAG	0.627000													17	30					4.7546e-09	5.90092e-09	1	1	0
NID1	4811	broad.mit.edu	37	1	236201504	236201504	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:236201504G>T	ENST00000264187.6	-	5	1267	c.1185C>A	c.(1183-1185)caC>caA	p.H395Q	NID1_ENST00000366595.3_Missense_Mutation_p.H395Q	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	395	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCGAGCACTGGTGTCTGTTGT	0.537000													57	24					3.40343e-31	6.39731e-31	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196749473	196749473	+	Silent	SNP	A	A	G	rs149685696	by1000genomes	TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:196749473A>G	ENST00000312428.6	-	35	5699	c.5599T>C	c.(5599-5601)Ttg>Ctg	p.L1867L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1867					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTAAATTTCAATCGATCATCA	0.358000													18	19					0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129251554	129251554	+	Missense_Mutation	SNP	C	C	A	rs104893789		TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:129251554C>A	ENST00000296271.3	+	4	969	c.875C>A	c.(874-876)gCg>gAg	p.A292E		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	292			A -> E (in CSNBAD1).		protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ACCATCCCAGCGTTCTTTGCC	0.582000													20	44					8.00594e-06	8.99923e-06	1	1	0
GALNT6	11226	broad.mit.edu	37	12	51773503	51773503	+	Silent	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:51773503C>G	ENST00000543196.2	-	2	268	c.63G>C	c.(61-63)gtG>gtC	p.V21V	GALNT6_ENST00000356317.3_Silent_p.V21V			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	21					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGAGGAAGAGCACAAAGGCGC	0.637000													9	27					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928043	15928043	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:15928043C>A	ENST00000504595.1	+	3	653	c.172C>A	c.(172-174)Ctg>Atg	p.L58M	FBXL7_ENST00000329673.7_Missense_Mutation_p.L46M|FBXL7_ENST00000510662.1_Missense_Mutation_p.L11M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	58					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAGCCCAGCCCTGATATGTCC	0.602000													32	157					3.11337e-16	4.83e-16	1	1	0
CARD11	84433	broad.mit.edu	37	7	2987266	2987266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:2987266G>A	ENST00000396946.4	-	3	566	c.163C>T	c.(163-165)Cag>Tag	p.Q55*		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	55	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTTCATCCTGCTCATCAATG	0.542000			Mis		DLBCL								100	68					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10910333	10910333	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr21:10910333C>T	ENST00000298232.7	-	21	1736	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D475N|TPTE_ENST00000342420.5_Missense_Mutation_p.D437N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	475	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTTCACATCATCATACAGA	0.338000													20	92					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47883026	47883026	+	Silent	SNP	C	C	T	rs139995746	byFrequency	TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:47883026C>T	ENST00000328771.4	+	14	3115	c.2766C>T	c.(2764-2766)gcC>gcT	p.A922A		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	922						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCCTGGTGGCCGATGGCTGGC	0.632000													5	63					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25551278	25551278	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:25551278G>T	ENST00000329474.6	+	27	2837	c.2469G>T	c.(2467-2469)ttG>ttT	p.L823F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	823					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATGTCCTGTTGGAGCAGTCTG	0.393000													37	54					9.45814e-24	1.64159e-23	1	1	0
GPR112	139378	broad.mit.edu	37	X	135432101	135432101	+	Missense_Mutation	SNP	G	G	T	rs151076999	byFrequency	TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:135432101G>T	ENST00000394143.1	+	6	6527	c.6236G>T	c.(6235-6237)gGt>gTt	p.G2079V	GPR112_ENST00000394141.1_Missense_Mutation_p.G1874V|GPR112_ENST00000412101.1_Missense_Mutation_p.G1874V|GPR112_ENST00000287534.4_Missense_Mutation_p.G2016V|GPR112_ENST00000370652.1_Missense_Mutation_p.G2079V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2079					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACACTGGGTGGTATCACTACT	0.473000													44	102					5.73435e-26	1.03492e-25	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141055420	141055420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:141055420G>T	ENST00000389484.3	-	84	13895	c.12924C>A	c.(12922-12924)taC>taA	p.Y4308*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4308	EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCAGTGGCAGTAAGGCTGGT	0.468000										TSP Lung(27;0.18)			87	133					3.26865e-45	6.24766e-45	1	1	0
GPR119	139760	broad.mit.edu	37	X	129518896	129518896	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:129518896G>T	ENST00000276218.2	-	1	615	c.526C>A	c.(526-528)Cca>Aca	p.P176T		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	176						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGCATGGCTGGGAAGAAGCCA	0.527000													21	56					2.39187e-15	3.64821e-15	1	1	0
GABPA	2551	broad.mit.edu	37	21	27124298	27124298	+	Splice_Site	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr21:27124298A>T	ENST00000354828.3	+	5	834		c.e5-1		GABPA_ENST00000487266.1_Splice_Site|GABPA_ENST00000400075.3_Splice_Site	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa						positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TCCACTGTTCAGGAATTGAAC	0.343000													19	49					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24900790	24900790	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr14:24900790C>T	ENST00000251343.5	+	3	462	c.323C>T	c.(322-324)tCa>tTa	p.S108L	KHNYN_ENST00000556842.1_Missense_Mutation_p.S108L|KHNYN_ENST00000553935.1_Missense_Mutation_p.S108L			O15037	KHNYN_HUMAN	KH and NYN domain containing	108										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGGAGCACGTCAGCCCATCTG	0.602000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	44					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60369018	60369018	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:60369018G>T	ENST00000296597.5	+	2	321	c.194G>T	c.(193-195)gGg>gTg	p.G65V	NDUFAF2_ENST00000512623.1_3'UTR|NDUFAF2_ENST00000511107.1_Intron	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	65						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TATGAAGCAGGGGATATTCCA	0.303000													41	47					7.70917e-36	1.46119e-35	1	1	0
MYF6	4618	broad.mit.edu	37	12	81101884	81101884	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:81101884C>A	ENST00000228641.3	+	1	608	c.386C>A	c.(385-387)cCc>cAc	p.P129H		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	129	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CAGAGGCTGCCCAAGGTGGAG	0.607000													32	49					1.30897e-18	2.12532e-18	1	1	0
MED1	5469	broad.mit.edu	37	17	37596726	37596726	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:37596726C>A	ENST00000300651.6	-	5	535	c.312G>T	c.(310-312)acG>acT	p.T104T	MED1_ENST00000394287.3_Silent_p.T104T	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	104	Interaction with ESR1.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACATATCTGACGTGATGTAAC	0.428000										HNSCC(31;0.082)			36	89					5.8336e-16	8.95804e-16	1	1	0
CHD6	84181	broad.mit.edu	37	20	40102031	40102031	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr20:40102031C>A	ENST00000373233.3	-	17	2772	c.2595G>T	c.(2593-2595)ggG>ggT	p.G865G	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	865	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGAGATTGATCCCCAGGCCTC	0.507000													8	20					0.0381472	0.0386593	1	1	0
AMER3	205147	broad.mit.edu	37	2	131520883	131520883	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:131520883C>A	ENST00000423981.1	+	2	1348	c.1238C>A	c.(1237-1239)cCa>cAa	p.P413Q	AMER3_ENST00000321420.4_Missense_Mutation_p.P413Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GCCACCTTCCCACGGGACAGC	0.612000													20	33					2.54575e-18	4.08945e-18	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50960780	50960780	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:50960780C>A	ENST00000374103.4	-	4	467	c.382G>T	c.(382-384)Ggt>Tgt	p.G128C	OGDHL_ENST00000432695.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.G71C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	128					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACATGGTGACCCCGGATCTGG	0.602000													15	31					2.31682e-05	2.55981e-05	1	1	0
KCNA5	3741	broad.mit.edu	37	12	5154619	5154619	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:5154619C>A	ENST00000252321.3	+	1	1535	c.1306C>A	c.(1306-1308)Ctg>Atg	p.L436M		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	436						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GGAGCTGGGGCTGCTCATCTT	0.597000													17	46					5.35267e-07	6.21733e-07	1	1	0
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	by1000genomes	TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:16734855C>T	ENST00000579062.1	-	0	460																		p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632000													4	27					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171583631	171583631	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:171583631C>A	ENST00000176763.5	-	2	661	c.318G>T	c.(316-318)ctG>ctT	p.L106L		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	106	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCTTACCCACAGCTTCCCGT	0.592000													33	27					1.61788e-16	2.52724e-16	1	1	0
ANTXR1	84168	broad.mit.edu	37	2	69472355	69472355	+	Splice_Site	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:69472355A>G	ENST00000303714.4	+	18	1756		c.e18-1			NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1						actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATTCTTTTCTAGGGGCGCTGC	0.587000									Familial Infantile Hemangioma				19	47					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33318380	33318380	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr21:33318380G>T	ENST00000270112.2	+	4	1003	c.643G>T	c.(643-645)Ggt>Tgt	p.G215C		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	215	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGGGATCCTGGGTTACTCGGA	0.517000													34	87					2.09667e-21	3.54399e-21	1	1	0
WNK2	65268	broad.mit.edu	37	9	95993313	95993313	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:95993313G>T	ENST00000297954.4	+	3	998	c.998G>T	c.(997-999)gGa>gTa	p.G333V	WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.G319V|WNK2_ENST00000395477.2_Missense_Mutation_p.G333V|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	333	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TTCATCACCGGACCAACTGGG	0.537000													45	91					5.48756e-27	1.00237e-26	1	1	0
C1ORF220	400798	broad.mit.edu	37	1	178514940	178514940	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:178514940A>T	ENST00000367636.4	+	2	664	c.326A>T	c.(325-327)cAa>cTa	p.Q109L	C1orf220_ENST00000319387.2_3'UTR|C1orf220_ENST00000521244.1_3'UTR																							TCTCTGCTTCAATTCTGGTGC	0.443000													12	61					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35550653	35550653	+	Silent	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:35550653G>C	ENST00000262626.2	+	5	1062	c.237G>C	c.(235-237)tcG>tcC	p.S79S	HPN_ENST00000600675.1_3'UTR|HPN_ENST00000597419.1_Silent_p.S31S|HPN_ENST00000392226.1_Silent_p.S79S|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	79	SRCR.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	TGTGCTCCTCGCGCTCCAACG	0.701000													3	1					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468178	56468178	+	Silent	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:56468178G>C	ENST00000312153.1	+	1	315	c.315G>C	c.(313-315)ggG>ggC	p.G105G		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TCTCTGCAGGGCTGGCCTATA	0.532000													19	83					0	0	1	0	0
BAG1	573	broad.mit.edu	37	9	33264433	33264433	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:33264433C>A	ENST00000472232.3	-	1	326	c.240G>T	c.(238-240)tcG>tcT	p.S80S	BAG1_ENST00000379704.2_5'UTR	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	BCL2-associated athanogene	80	Arg-rich.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			CGCTCCGGGTCGAGCGGCGCC	0.701000													18	34					1.45105e-14	2.10008e-14	1	1	0
IL18RAP	8807	broad.mit.edu	37	2	103067322	103067322	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:103067322G>A	ENST00000264260.2	+	11	1814	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N	IL18RAP_ENST00000409369.1_Missense_Mutation_p.D267N	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	409	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAAGGATTTTGATGCTTTCGT	0.338000													23	47					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804737	27804737	+	Silent	SNP	T	T	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:27804737T>C	ENST00000408964.2	+	1	5349	c.5298T>C	c.(5296-5298)caT>caC	p.H1766H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1766	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAGAAGCCATTGCAGTCCCT	0.527000													85	237					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130775406	130775406	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:130775406T>A	ENST00000509018.1	-	24	3818	c.3613A>T	c.(3613-3615)Aca>Tca	p.T1205S	RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T928S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T1213S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T1213S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T1218S|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T1205S|FNIP1_ENST00000514667.1_Missense_Mutation_p.T1255S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1205					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GGTAAACTTGTATCTAAAAAT	0.328000													14	12					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63994156	63994156	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:63994156C>A	ENST00000324472.4	-	13	1472	c.1289G>T	c.(1288-1290)gGt>gTt	p.G430V		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	430					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CCAGGCACTACCTTGAATTAG	0.308000													26	47					6.38683e-12	8.61082e-12	1	1	0
COL9A2	1298	broad.mit.edu	37	1	40768852	40768852	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:40768852C>A	ENST00000372748.3	-	29	1650	c.1554G>T	c.(1552-1554)cgG>cgT	p.R518R	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	518	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CAGTGGCATCCCGGCCCTGAA	0.642000													7	10					3.09899e-07	3.63689e-07	1	1	0
CMTR2	55783	broad.mit.edu	37	16	71317669	71317669	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:71317669G>A	ENST00000338099.5	-	3	2491	c.2155C>T	c.(2155-2157)Cag>Tag	p.Q719*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.Q719*			Q8IYT2	FTSJ1_HUMAN		719						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAAACCTGCTGGGGTGAGTCA	0.448000													21	19					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35928624	35928624	+	Missense_Mutation	SNP	C	C	T	rs142348124	by1000genomes	TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:35928624C>T	ENST00000490799.1	-	14	1987	c.1634G>A	c.(1633-1635)cGg>cAg	p.R545Q	SLC26A8_ENST00000394602.2_Missense_Mutation_p.R440Q|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R545Q	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	545	STAS.				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						TCTTACCTCCCGATAATCATT	0.433000													20	62					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019917	56019917	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:56019917A>T	ENST00000303059.3	+	1	242	c.242A>T	c.(241-243)gAg>gTg	p.E81V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTGGTCATTGAGGATTCCTGG	0.368000													16	68					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53186142	53186142	+	Silent	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:53186142G>A	ENST00000417996.2	-	5	1143	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	KRT3_ENST00000309505.3_Silent_p.L357L	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	357	Linker 12.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCCATGGACAGCACCACAGAT	0.512000													10	31					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97373074	97373074	+	Silent	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:97373074C>G	ENST00000264963.4	-	8	988	c.966G>C	c.(964-966)ctG>ctC	p.L322L	LMAN2L_ENST00000377079.4_Silent_p.L333L|LMAN2L_ENST00000426463.2_Silent_p.L188L|LMAN2L_ENST00000537039.1_Silent_p.L184L|LMAN2L_ENST00000534882.1_Silent_p.L177L	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	322					ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CAGAAAACACCAGGGAGAAAA	0.522000													11	23					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419787	130419787	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:130419787C>A	ENST00000370904.1	-	10	1216	c.306G>T	c.(304-306)gaG>gaT	p.E102D	IGSF1_ENST00000370900.1_Missense_Mutation_p.E111D|IGSF1_ENST00000370901.4_Missense_Mutation_p.E111D|IGSF1_ENST00000370903.3_Missense_Mutation_p.E111D|IGSF1_ENST00000370910.1_Missense_Mutation_p.E102D|IGSF1_ENST00000361420.3_Missense_Mutation_p.E111D			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	111	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCAGCCTGTCTCCTTCCAGT	0.493000													33	77					8.88839e-20	1.46416e-19	1	1	0
LRIT2	340745	broad.mit.edu	37	10	85984760	85984760	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:85984760G>T	ENST00000372113.4	-	2	226	c.221C>A	c.(220-222)tCt>tAt	p.S74Y	LRIT2_ENST00000538192.1_Missense_Mutation_p.S74Y	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	74						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTTGATGAAAGACCCTTGGGG	0.463000													37	66					1.836e-18	2.95982e-18	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118568009	118568009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:118568009C>T	ENST00000336338.5	-	27	3826	c.3761G>A	c.(3760-3762)tGg>tAg	p.W1254*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1254						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CATGATGTCCCAGGTGGGTTC	0.463000													23	62					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94058538	94058538	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:94058538G>T	ENST00000297268.6	+	51	4221	c.3750G>T	c.(3748-3750)atG>atT	p.M1250I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1250	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCAAGGAAATGGCTACCCAAC	0.438000										HNSCC(75;0.22)			42	10					2.35958e-20	3.92975e-20	1	1	0
KIAA0368	23392	broad.mit.edu	37	9	114176891	114176891	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:114176891C>A	ENST00000259335.4	-	20	2338	c.2339G>T	c.(2338-2340)gGg>gTg	p.G780V	KIAA0368_ENST00000338205.5_Missense_Mutation_p.G602V	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGGCACCACCCCCGCACTGTG	0.542000													31	84					5.91797e-21	9.92903e-21	1	1	0
LURAP1	541468	broad.mit.edu	37	1	46669138	46669138	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:46669138G>T	ENST00000371980.3	+	1	133	c.40G>T	c.(40-42)Gat>Tat	p.D14Y	POMGNT1_ENST00000371992.1_Intron|POMGNT1_ENST00000396420.3_Intron	NM_001013615.2	NP_001013633.1	Q96LR2	CA190_HUMAN	leucine rich adaptor protein 1	14					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm											TGACCTGCGGGATGTGGAGGG	0.716000													16	37					3.52763e-06	4.01512e-06	1	1	0
GUCY2C	2984	broad.mit.edu	37	12	14766090	14766090	+	Silent	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:14766090C>T	ENST00000261170.3	-	27	3319	c.3183G>A	c.(3181-3183)ttG>ttA	p.L1061L	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1061					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TATTCAGCTGCAAGTATTCCA	0.433000													35	116					0	0	1	0	0
HIGD1A	25994	broad.mit.edu	37	3	42835654	42835654	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:42835654G>A	ENST00000321331.7	-	2	209	c.92C>T	c.(91-93)cCc>cTc	p.P31L	HIGD1A_ENST00000452906.2_Missense_Mutation_p.P45L|HIGD1A_ENST00000418900.2_Missense_Mutation_p.P31L|HIGD1A_ENST00000430190.1_Missense_Mutation_p.P31L|HIGD1A_ENST00000470543.1_Intron	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A	31	HIG1.				response to stress	integral to membrane|protein complex	protein binding			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTTACCAACGGGTACGAATGG	0.378000													23	22					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325709	158325709	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:158325709G>T	ENST00000444681.2	+	3	714	c.421G>T	c.(421-423)Gtg>Ttg	p.V141L	CD1E_ENST00000368160.3_Missense_Mutation_p.V240L|CD1E_ENST00000368157.1_Missense_Mutation_p.V51L|CD1E_ENST00000434258.1_Missense_Mutation_p.V238L|CD1E_ENST00000368167.3_Missense_Mutation_p.V240L|CD1E_ENST00000452291.2_Missense_Mutation_p.V51L|CD1E_ENST00000368164.3_Missense_Mutation_p.V51L|CD1E_ENST00000368165.3_Missense_Mutation_p.V150L|CD1E_ENST00000368161.3_Missense_Mutation_p.V240L|CD1E_ENST00000368166.3_Missense_Mutation_p.V51L|CD1E_ENST00000368154.1_Missense_Mutation_p.V51L|CD1E_ENST00000368155.3_Missense_Mutation_p.V150L|CD1E_ENST00000368156.1_Missense_Mutation_p.V150L|CD1E_ENST00000368163.3_Missense_Mutation_p.V240L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	240					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCCAAAGCCCGTGTGGGTGAT	0.622000													47	35					1.00776e-21	1.70979e-21	1	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409476	56409476	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:56409476C>A	ENST00000544374.1	-	1	471	c.443G>T	c.(442-444)tGc>tTc	p.C148F	OR5AP2_ENST00000302981.1_Missense_Mutation_p.C147F			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TAGCAAAAAGCAAATTCTCCC	0.478000													26	65					4.7796e-09	5.91574e-09	1	1	0
INPP1	3628	broad.mit.edu	37	2	191231523	191231523	+	Missense_Mutation	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:191231523G>C	ENST00000392329.2	+	5	1068	c.368G>C	c.(367-369)aGg>aCg	p.R123T	INPP1_ENST00000541441.1_Missense_Mutation_p.R123T|INPP1_ENST00000322522.4_Missense_Mutation_p.R123T	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	123					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	GCATTAGCCAGGGTTGTTCAT	0.458000													26	41					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227928	39227928	+	Silent	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:39227928A>T	ENST00000340369.3	-	2	3237	c.3009T>A	c.(3007-3009)ccT>ccA	p.P1003P	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.P1003P	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1003							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCCAGCCAGAGGGACTGCCT	0.582000													12	25					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271337	59271337	+	Missense_Mutation	SNP	T	T	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:59271337T>C	ENST00000313253.1	+	1	289	c.289T>C	c.(289-291)Tgc>Cgc	p.C97R		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTATACAAGCTGCATGACACA	0.478000													63	137					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175334331	175334331	+	Missense_Mutation	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:175334331G>C	ENST00000367674.1	-	12	3110	c.2402C>G	c.(2401-2403)gCa>gGa	p.A801G	TNR_ENST00000263525.2_Missense_Mutation_p.A801G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	801	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAGTCTGTCTGCTGGGGGAGA	0.537000													14	41					0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34557624	34557624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:34557624G>T	ENST00000378980.3	-	6	797	c.504C>A	c.(502-504)taC>taA	p.Y168*	CNTFR_ENST00000351266.4_Nonsense_Mutation_p.Y168*	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	168	Fibronectin type-III 1.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		ACAGGTGCATGTAGCGAATGT	0.527000													24	34					1.68575e-08	2.05281e-08	1	1	0
UBR5	51366	broad.mit.edu	37	8	103289393	103289393	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:103289393C>T	ENST00000520539.1	-	45	6922	c.6316G>A	c.(6316-6318)Gcc>Acc	p.A2106T	UBR5_ENST00000220959.4_Missense_Mutation_p.A2106T|UBR5_ENST00000521922.1_Missense_Mutation_p.A2100T	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2106					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCAGATTGGCAGCATAAGAC	0.358000													19	56					0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774527	14774527	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:14774527C>A	ENST00000295092.2	+	2	712	c.424C>A	c.(424-426)Ccg>Acg	p.P142T	FAM84A_ENST00000331243.4_Missense_Mutation_p.P142T	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	142										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			cgcgcccgccccgcACTGGGC	0.736000													5	5					0.217242	0.218206	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8331608	8331608	+	Missense_Mutation	SNP	T	T	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:8331608T>G	ENST00000381196.4	-	41	6051	c.5508A>C	c.(5506-5508)caA>caC	p.Q1836H	PTPRD_ENST00000355233.5_Missense_Mutation_p.Q1430H|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q1429H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q1426H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q1429H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1836H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1823H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q1426H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1814H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q1429H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1836H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1836	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGGTCCATCTTGGCCAAACT	0.423000										TSP Lung(15;0.13)			21	44					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145157659	145157659	+	Silent	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:145157659G>A	ENST00000558170.2	-	8	2279	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	ZEB2_ENST00000539609.3_Silent_p.A341A|ZEB2_ENST00000409487.3_Silent_p.A365A|ZEB2_ENST00000303660.4_Silent_p.A365A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	365						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACTGGGTAATGGCTGAATTAG	0.363000													21	50					0	0	1	0	0
TRGV8	6982	broad.mit.edu	37	7	38369982	38369982	+	RNA	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:38369982G>T	ENST00000390343.2	-	0	429																											CCAGAGTCACGTTCAATTAGA	0.448000													23	78					2.48779e-11	3.3049e-11	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27497405	27497405	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:27497405C>A	ENST00000356183.4	-	24	3786	c.3771G>T	c.(3769-3771)cgG>cgT	p.R1257R	GTF3C1_ENST00000561623.1_Silent_p.R1257R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1257						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCGCGTCATCCGCTGCAGGG	0.562000													57	72					6.176e-18	9.78226e-18	1	1	0
PCDHB13	56123	broad.mit.edu	37	5	140595852	140595852	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:140595852G>T	ENST00000341948.4	+	1	2344	c.2157G>T	c.(2155-2157)gcG>gcT	p.A719A		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		719					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCGGTGG	0.642000													59	65					5.7761e-15	8.60715e-15	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129190077	129190077	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:129190077G>T	ENST00000540052.1	+	12	5146	c.5102G>T	c.(5101-5103)gGg>gTg	p.G1701V	BCORL1_ENST00000359304.2_Missense_Mutation_p.G1571V|BCORL1_ENST00000303743.5_Missense_Mutation_p.G1775V|BCORL1_ENST00000218147.7_Missense_Mutation_p.G1701V	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1701					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CGGCTCCTAGGGTCCGAGGTG	0.602000													17	31					0.000422831	0.000448578	1	1	0
FAM45B	55855	broad.mit.edu	37	X	129629924	129629924	+	RNA	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:129629924C>T	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							CCATTGCTCCCCTTGCAAAAG	0.473000													51	105					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97377665	97377665	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:97377665G>A	ENST00000264963.4	-	5	627	c.605C>T	c.(604-606)gCc>gTc	p.A202V	LMAN2L_ENST00000377079.4_Missense_Mutation_p.A213V|LMAN2L_ENST00000426463.2_Missense_Mutation_p.A68V|LMAN2L_ENST00000537039.1_Missense_Mutation_p.A64V|LMAN2L_ENST00000534882.1_Missense_Mutation_p.A57V	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	202	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GCGGACAATGGCTGTGCAGCC	0.562000													37	56					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72025989	72025989	+	Silent	SNP	T	T	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:72025989T>C	ENST00000378743.3	-	15	3481	c.3123A>G	c.(3121-3123)agA>agG	p.R1041R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1041					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCTTCGCTCTCTGCTTGAAC	0.333000													59	116					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135382544	135382544	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:135382544T>A	ENST00000442011.2	+	5	625	c.464T>A	c.(463-465)gTg>gAg	p.V155E	TGFBI_ENST00000305126.8_Missense_Mutation_p.V155E	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	155	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCTAGGAAGTGCTGGACTCC	0.547000													4	10					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124165679	124165679	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:124165679G>T	ENST00000360013.3	+	21	3620	c.3493G>T	c.(3493-3495)Gag>Tag	p.E1165*	KALRN_ENST00000240874.3_Nonsense_Mutation_p.E1165*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.E1156*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1165					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAGACCACAGAGGAGACTCA	0.517000													45	96					4.00472e-15	6.02703e-15	1	1	0
STK33	65975	broad.mit.edu	37	11	8479028	8479028	+	Splice_Site	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:8479028T>A	ENST00000447869.1	-	5	1477		c.e5-2		STK33_ENST00000396673.1_Splice_Site|STK33_ENST00000358872.3_Splice_Site|STK33_ENST00000396672.1_Splice_Site|STK33_ENST00000315204.1_Splice_Site|STK33_ENST00000534493.1_Splice_Site			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33							Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GTACATTTTCTGACATTATAT	0.323000													13	16					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29652853	29652853	+	Missense_Mutation	SNP	A	A	T	rs150309802		TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:29652853A>T	ENST00000358273.4	+	37	5234	c.4851A>T	c.(4849-4851)caA>caT	p.Q1617H	NF1_ENST00000356175.3_Missense_Mutation_p.Q1596H|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1617	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACTGGTCAAATCAATGGTG	0.323000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			35	84					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101150160	101150160	+	Silent	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:101150160C>A	ENST00000356713.4	+	10	3061	c.2772C>A	c.(2770-2772)acC>acA	p.T924T	CNNM1_ENST00000446890.1_Silent_p.T853T|CNNM1_ENST00000370528.3_Silent_p.T803T|CNNM1_ENST00000370534.4_Silent_p.T580T	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	924					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGCTGAGAACCTTGAGTGAGT	0.488000													4	16					0.014758	0.0150911	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67148048	67148048	+	Silent	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:67148048C>G	ENST00000371037.4	+	15	1388	c.1311C>G	c.(1309-1311)acC>acG	p.T437T	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.T441T	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	437	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CGGGGACCACCAGTGGTATGT	0.617000													73	168					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7370222	7370222	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:7370222T>A	ENST00000502583.1	-	6	2387	c.1823A>T	c.(1822-1824)aAa>aTa	p.K608I	CAGE1_ENST00000338150.4_Missense_Mutation_p.K608I|CAGE1_ENST00000296742.7_Missense_Mutation_p.K472I|CAGE1_ENST00000379918.4_Missense_Mutation_p.K608I|CAGE1_ENST00000512086.1_Missense_Mutation_p.K608I	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	608										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGAAGCTCTTTTTATATCTGC	0.413000													14	20					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78510650	78510650	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:78510650C>A	ENST00000397909.2	+	13	2908	c.2735C>A	c.(2734-2736)tCc>tAc	p.S912Y	NAV3_ENST00000266692.7_Missense_Mutation_p.S912Y|NAV3_ENST00000536525.2_Missense_Mutation_p.S912Y|NAV3_ENST00000228327.6_Missense_Mutation_p.S912Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	912						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCTCTTACTCCAACATCACC	0.453000										HNSCC(70;0.22)			37	71					3.78316e-11	4.99642e-11	1	1	0
TMPRSS3	64699	broad.mit.edu	37	21	43805594	43805594	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr21:43805594G>T	ENST00000291532.3	-	6	1451	c.496C>A	c.(496-498)Cgg>Agg	p.R166R	TMPRSS3_ENST00000380399.1_Silent_p.R250R|TMPRSS3_ENST00000398405.1_Silent_p.R164R|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.R166R|TMPRSS3_ENST00000398397.3_Silent_p.R166R	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	166	SRCR.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AACTCCTCCCGGAACTGCCCC	0.502000													51	107					4.0306e-16	6.23161e-16	1	1	0
MAN1C1	57134	broad.mit.edu	37	1	26104810	26104810	+	Missense_Mutation	SNP	G	G	A	rs146718720		TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:26104810G>A	ENST00000374332.4	+	9	1802	c.1472G>A	c.(1471-1473)cGc>cAc	p.R491H	MAN1C1_ENST00000263979.3_Missense_Mutation_p.R311H|MAN1C1_ENST00000374329.1_Missense_Mutation_p.R262H	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	491					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TCATACGCCCGCTCAGGTAAC	0.597000													11	23					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3063026	3063026	+	Splice_Site	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:3063026C>G	ENST00000520002.1	-	32	5542	c.4987_splice	c.e32+1	p.V1663_splice	CSMD1_ENST00000602723.1_Splice_Site_p.V1663_splice|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Splice_Site_p.V1663_splice|CSMD1_ENST00000602557.1_Splice_Site_p.V1663_splice|CSMD1_ENST00000542608.1_Splice_Site_p.V1662_splice|CSMD1_ENST00000539096.1_Splice_Site_p.V1662_splice|CSMD1_ENST00000537824.1_Splice_Site_p.V1662_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1663	CUB 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACATCCTTACCGAATTCCTTT	0.363000													5	5					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148933342	148933342	+	RNA	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:148933342G>T	ENST00000539543.1	+	0	228					NR_027355.1																						GCAGAAGGGAGGCTCCAAGAC	0.483000													3	33					0.014758	0.0150911	1	1	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020855	33020855	+	RNA	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:33020855C>G	ENST00000565407.2	+	0	263				RP11-19N8.2_ENST00000567619.1_RNA																							GGCCGATTCACCATCTCCAGG	0.522000													73	373					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11873190	11873190	+	Silent	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:11873190A>G	ENST00000396516.2	-	3	335	c.138T>C	c.(136-138)ctT>ctC	p.L46L	ZC3H7A_ENST00000355758.4_Silent_p.L46L|ZC3H7A_ENST00000575170.1_5'UTR			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	46						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CTTCATTAAAAAGATTTCTCA	0.328000													23	39					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158648289	158648289	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:158648289C>A	ENST00000368148.3	-	6	894	c.714G>T	c.(712-714)aaG>aaT	p.K238N	SPTA1_ENST00000368147.3_Missense_Mutation_p.K238N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	238					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCATTTTGCTTAGACTGAA	0.408000													9	41					0.000442599	0.000468452	1	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130215823	130215823	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:130215823A>T	ENST00000276211.5	+	2	529	c.184A>T	c.(184-186)Aag>Tag	p.K62*	ARHGAP36_ENST00000370922.1_Nonsense_Mutation_p.K50*	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	62					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGAGCGTCTGAAGCTGCAAGA	0.537000													55	114					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48444471	48444471	+	Missense_Mutation	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr15:48444471C>G	ENST00000324324.7	-	11	1377	c.1098G>C	c.(1096-1098)atG>atC	p.M366I	MYEF2_ENST00000267836.6_Missense_Mutation_p.M366I	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	366	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CTGGACCATCCATTCCCATAC	0.289000													46	79					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189975091	189975091	+	Missense_Mutation	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:189975091A>G	ENST00000374866.3	-	2	456	c.182T>C	c.(181-183)aTc>aCc	p.I61T		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	61	VWFC.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACAGACACAGATCTGACAAGG	0.478000													28	20					0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885389	50885389	+	Missense_Mutation	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:50885389A>T	ENST00000404795.3	-	3	969	c.577T>A	c.(577-579)Ttt>Att	p.F193I	DMRTA2_ENST00000418121.1_Missense_Mutation_p.F193I	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	193	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						AACAGGTCAAACTTCTGCAAC	0.627000													4	7					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10267804	10267804	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:10267804G>T	ENST00000418404.3	-	2	207	c.44C>A	c.(43-45)cCc>cAc	p.P15H	MYH13_ENST00000252172.4_Missense_Mutation_p.P15H|MYH13_ENST00000570743.1_Missense_Mutation_p.P15H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	15	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCGGAGGTAGGGAGCTGCTTC	0.502000													4	12					0.00024832	0.000265304	1	1	0
PPM1A	5494	broad.mit.edu	37	14	60749937	60749937	+	Silent	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr14:60749937A>G	ENST00000395076.4	+	2	946	c.516A>G	c.(514-516)aaA>aaG	p.K172K	PPM1A_ENST00000325642.3_Silent_p.K245K|PPM1A_ENST00000325658.3_Silent_p.K172K|PPM1A_ENST00000529574.1_Silent_p.K172K	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	172					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CGCTGGAGAAAGAACGAATTC	0.428000													26	80					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221900	5221900	+	Missense_Mutation	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:5221900C>G	ENST00000321255.1	-	1	30	c.31G>C	c.(31-33)Gta>Cta	p.V11L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGGGCTTACTGAAGTAATC	0.388000													24	28					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78211342	78211342	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:78211342G>A	ENST00000361193.3	+	9	1214	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	SLC26A11_ENST00000546047.2_Missense_Mutation_p.V312M|SLC26A11_ENST00000572725.1_Missense_Mutation_p.V312M|SLC26A11_ENST00000411502.3_Missense_Mutation_p.V312M	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	312						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGGGCTGGCCGTGGTGCCCCT	0.642000													7	11					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48955538	48955538	+	Nonsense_Mutation	SNP	C	C	T	rs121913303		TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr13:48955538C>T	ENST00000267163.4	+	17	1792	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	552	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R552*(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACATTTAGAACGATGTGAACA	0.323000	R552*(NCIH1048_LUNG)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			15	12					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52183073	52183073	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:52183073G>T	ENST00000354534.5	+	24	4468	c.4290G>T	c.(4288-4290)gaG>gaT	p.E1430D	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1389D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1430					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGCCTGATGAGCAGCCTAAGT	0.448000													11	23					6.40141e-05	7.00444e-05	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139165293	139165293	+	Missense_Mutation	SNP	T	T	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:139165293T>G	ENST00000395297.1	-	13	1595	c.1425A>C	c.(1423-1425)gaA>gaC	p.E475D		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	475										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCTTATAACTTCTTCATCAG	0.373000										HNSCC(54;0.14)			10	47					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121743854	121743854	+	Splice_Site	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:121743854C>A	ENST00000452319.1	+	13	2017	c.1956_splice	c.e13-1	p.L653_splice	GLI2_ENST00000314490.11_Splice_Site_p.L325_splice|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Splice_Site_p.L653_splice			P10070	GLI2_HUMAN	GLI family zinc finger 2	653					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCCCTGCAGCTGTGTCAGTC	0.657000													6	17					0.00116845	0.0012196	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31325211	31325211	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr18:31325211C>A	ENST00000269197.5	+	12	5399	c.5399C>A	c.(5398-5400)cCc>cAc	p.P1800H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAATTCCGCCCAGCTCTCCA	0.498000													56	49					5.82388e-19	9.49e-19	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167095322	167095322	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:167095322C>A	ENST00000361200.2	+	6	1120	c.954C>A	c.(952-954)gaC>gaA	p.D318E	DUSP27_ENST00000271385.5_Missense_Mutation_p.D318E|DUSP27_ENST00000443333.1_Missense_Mutation_p.D318E|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	318					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGAGGAGGACGACAGCGCCA	0.667000													3	8					0.00024832	0.000265304	1	1	0
ACSS3	79611	broad.mit.edu	37	12	81472177	81472177	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:81472177C>A	ENST00000548058.1	+	1	1188	c.278C>A	c.(277-279)aCg>aAg	p.T93K	ACSS3_ENST00000261206.3_Missense_Mutation_p.T93K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	93						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGGACCAAAACGCTGGAGAAC	0.592000													24	50					1.85244e-09	2.35718e-09	1	1	0
NPTX1	4884	broad.mit.edu	37	17	78444747	78444747	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:78444747C>A	ENST00000306773.4	-	5	1322	c.1165G>T	c.(1165-1167)Ggg>Tgg	p.G389W		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	389	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TACACCTCCCCGGGGGTCAGC	0.592000													15	93					2.23348e-06	2.55497e-06	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129618909	129618909	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:129618909G>A	ENST00000421865.2	+	21	2985	c.2936G>A	c.(2935-2937)tGt>tAt	p.C979Y		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	979	Laminin EGF-like 10.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCATTCGACTGTGAAGAGAGT	0.517000													9	20					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155030618	155030618	+	Missense_Mutation	SNP	T	T	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:155030618T>G	ENST00000356955.2	+	14	1809	c.1708T>G	c.(1708-1710)Tcc>Gcc	p.S570A	ADAM15_ENST00000368410.2_Missense_Mutation_p.S276A|ADAM15_ENST00000271836.6_Missense_Mutation_p.S570A|ADAM15_ENST00000368412.3_Missense_Mutation_p.S570A|ADAM15_ENST00000449910.2_Missense_Mutation_p.S570A|ADAM15_ENST00000368413.1_Missense_Mutation_p.S276A|ADAM15_ENST00000447332.3_Missense_Mutation_p.S554A|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.S580A|ADAM15_ENST00000360674.4_Missense_Mutation_p.S570A|ADAM15_ENST00000355956.2_Missense_Mutation_p.S570A|ADAM15_ENST00000359280.4_Missense_Mutation_p.S570A	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	570	Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|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)			CAGTTATGTGTCCTGCACCCC	0.592000													34	58					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060032	54060032	+	Silent	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:54060032G>A	ENST00000312233.2	-	3	1110	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	182					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CCCAGCCCCAGGCCTCCAAGG	0.697000													3	17					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103889	168103889	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:168103889C>A	ENST00000409195.1	+	9	6076	c.5987C>A	c.(5986-5988)aCt>aAt	p.T1996N	XIRP2_ENST00000409273.1_Missense_Mutation_p.T1774N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1996N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1821					actin cytoskeleton organization	cell junction	actin binding	p.T1996N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAGCAGATACTCTCAGTCAA	0.458000													21	26					1.96292e-10	2.53334e-10	1	1	0
FAM27L	284123	broad.mit.edu	37	17	21826421	21826421	+	RNA	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:21826421G>T	ENST00000426869.3	+	0	604					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		TGTTTCTGAGGGGCCTAGATG	0.547000													3	3					6.4e-05	7.00444e-05	1	1	0
TET1	80312	broad.mit.edu	37	10	70332915	70332915	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:70332915G>A	ENST00000373644.4	+	2	1029	c.820G>A	c.(820-822)Ggt>Agt	p.G274S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	274					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGAAGAGTTGGGTTCACGAGT	0.428000													36	79					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77093181	77093181	+	Missense_Mutation	SNP	T	T	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:77093181T>C	ENST00000328299.3	+	4	816	c.668T>C	c.(667-669)cTt>cCt	p.L223P		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	223			L -> I (in dbSNP:rs1184626).		protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TTTACCTTCCTTCTGGCCATG	0.423000													40	98					0	0	1	0	0
DRAM2	128338	broad.mit.edu	37	1	111663244	111663244	+	Silent	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:111663244A>G	ENST00000286692.4	-	6	1028	c.411T>C	c.(409-411)ttT>ttC	p.F137F	DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Silent_p.F137F			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	137					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						TGGTCTGAACAAACATATATA	0.423000													24	48					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085895	42085895	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr19:42085895G>T	ENST00000407170.2	+	4	1043	c.230G>T	c.(229-231)aGg>aTg	p.R77M	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.R205M|CEACAM21_ENST00000401445.2_Missense_Mutation_p.R205M			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	205						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GACCCCATCAGGCAGGAGGAC	0.537000													4	8					0.00909568	0.00934318	1	1	0
FABP7	2173	broad.mit.edu	37	6	123102473	123102473	+	Missense_Mutation	SNP	G	G	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr6:123102473G>C	ENST00000356535.4	+	3	518	c.482G>C	c.(481-483)aGg>aCg	p.R161T	FABP7_ENST00000368444.3_Intron			O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	0					negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	TCACTGGCAAGGTTCTTTAAC	0.383000													4	7					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100732572	100732572	+	Splice_Site	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:100732572G>T	ENST00000395996.1	+	39	6910		c.e39-1		VPS13B_ENST00000357162.2_Splice_Site|VPS13B_ENST00000358544.2_Splice_Site			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGATTTTAAAGGTCTTCTGGG	0.284000													8	26					1.06961e-07	1.27846e-07	1	1	0
SSH3	54961	broad.mit.edu	37	11	67074511	67074511	+	Splice_Site	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:67074511A>T	ENST00000308127.4	+	5	642		c.e5-1		SSH3_ENST00000376757.5_Splice_Site|SSH3_ENST00000532181.1_Splice_Site|SSH3_ENST00000308298.7_Splice_Site	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3						regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GTCCCCTGCCAGCTCCCCCAG	0.622000													13	37					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85211189	85211189	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:85211189C>A	ENST00000357749.2	-	8	1164	c.1135G>T	c.(1135-1137)Ggc>Tgc	p.G379C	CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.G231C	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	379					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCTCCTTGGCCATATAAAGGA	0.423000													21	36					3.62473e-10	4.63843e-10	1	1	0
CARD10	29775	broad.mit.edu	37	22	37913979	37913979	+	Splice_Site	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr22:37913979G>A	ENST00000403299.1	-	3	588	c.373_splice	c.e3+1	p.L124_splice	CARD10_ENST00000251973.5_Splice_Site_p.L124_splice			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	124					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TCCACTCACCGAGGATCATGG	0.622000													8	9					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105929812	105929812	+	Missense_Mutation	SNP	T	T	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr11:105929812T>C	ENST00000526793.1	-	2	172	c.13A>G	c.(13-15)Atg>Gtg	p.M5V	KBTBD3_ENST00000531837.1_Missense_Mutation_p.M5V|KBTBD3_ENST00000531482.2_Missense_Mutation_p.M5V|KBTBD3_ENST00000534815.1_Intron	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	1										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GAATTATCCATAGCCAATTCC	0.353000													16	22					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280529	152280529	+	Missense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:152280529C>A	ENST00000368799.1	-	3	6868	c.6833G>T	c.(6832-6834)gGc>gTc	p.G2278V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2278	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTGGAGCCATCTCTTGA	0.552000									Ichthyosis				230	365					6.16916e-90	1.1892e-89	1	1	0
DUSP10	11221	broad.mit.edu	37	1	221879545	221879545	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:221879545G>A	ENST00000366899.3	-	3	1313	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	DUSP10_ENST00000323825.3_Missense_Mutation_p.P17S|DUSP10_ENST00000544095.1_Missense_Mutation_p.P17S|DUSP10_ENST00000468085.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	359					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TGGTAGAGGGGAAGATGAGTG	0.537000													53	120					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18882128	18882128	+	Silent	SNP	T	T	C			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:18882128T>C	ENST00000446231.2	-	17	2797	c.2385A>G	c.(2383-2385)ttA>ttG	p.L795L	SMG1_ENST00000389467.3_Silent_p.L795L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	795	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CATACCTCTGTAAAAGATCAT	0.373000													7	3					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124417997	124417997	+	Silent	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:124417997C>T	ENST00000409039.3	+	76	13087	c.13062C>T	c.(13060-13062)acC>acT	p.T4354T	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4354					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCGCTCCACCTTGTTCACAC	0.602000													16	43					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093791	40093791	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr15:40093791G>T	ENST00000299092.3	-	4	1285	c.1087C>A	c.(1087-1089)Cgc>Agc	p.R363S	GPR176_ENST00000561100.1_Missense_Mutation_p.R364S|GPR176_ENST00000543580.1_Missense_Mutation_p.R319S	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	364					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTACCCGAGCGTATGCTGGGT	0.567000													45	44					9.39024e-22	1.59916e-21	1	1	0
DRD3	1814	broad.mit.edu	37	3	113850171	113850171	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:113850171G>T	ENST00000383673.2	-	6	1230	c.800C>A	c.(799-801)cCa>cAa	p.P267Q	DRD3_ENST00000460779.1_Missense_Mutation_p.P267Q|DRD3_ENST00000295881.7_Missense_Mutation_p.P267Q|DRD3_ENST00000467632.1_Missense_Mutation_p.P267Q	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	267					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TTGGAAGCCTGGTCCACCCAA	0.537000													53	86					2.81731e-22	4.816e-22	1	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117960206	117960206	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:117960206G>T	ENST00000310164.2	+	4	1506	c.999G>T	c.(997-999)ggG>ggT	p.G333G		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ACGGTCCTGGGGAGATGCGTA	0.512000													33	91					9.65021e-13	1.33686e-12	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32582465	32582465	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr21:32582465C>T	ENST00000286827.3	-	12	2755	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	TIAM1_ENST00000541036.1_Missense_Mutation_p.E737K	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	762					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTGAAATACTCGTGGACCCAA	0.532000													22	46					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15655727	15655727	+	Silent	SNP	C	C	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr10:15655727C>G	ENST00000378076.3	-	15	1838	c.1485G>C	c.(1483-1485)ctG>ctC	p.L495L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	495					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCATTGGGTGCAGCAGAAGCT	0.463000													30	81					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102533	61102533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr13:61102533G>T	ENST00000196169.3	+	11	1683	c.895G>T	c.(895-897)Gga>Tga	p.G299*	TDRD3_ENST00000535286.1_Nonsense_Mutation_p.G392*|TDRD3_ENST00000377894.2_Nonsense_Mutation_p.G299*|TDRD3_ENST00000377881.2_Nonsense_Mutation_p.G299*	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	299					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GCTTCATCAGGGACAATACAG	0.343000													27	50					3.00307e-07	3.54268e-07	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23523398	23523398	+	Splice_Site	SNP	A	A	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:23523398A>T	ENST00000296682.3	+	9	1064		c.e9-1			NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCTGAAACTCAGATCACCAAG	0.438000										HNSCC(3;0.000094)			48	98					0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021135	142021135	+	RNA	SNP	A	A	G			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:142021135A>G	ENST00000390381.3	+	0	424																											ACAGCAAGTGACACTGAGCTG	0.512000													7	37					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195599255	195599255	+	Missense_Mutation	SNP	C	C	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:195599255C>T	ENST00000333602.6	-	10	1960	c.1343G>A	c.(1342-1344)gGc>gAc	p.G448D	TNK2_ENST00000428187.1_Missense_Mutation_p.G480D|TNK2_ENST00000392400.1_Missense_Mutation_p.G448D|TNK2_ENST00000316664.3_Missense_Mutation_p.G448D|TNK2_ENST00000381916.2_Missense_Mutation_p.G511D	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	448	SH3.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGCCGACAGGCCGGCCACGGA	0.672000													3	33					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31236900	31236900	+	Missense_Mutation	SNP	G	G	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr12:31236900G>A	ENST00000251758.5	+	3	549	c.298G>A	c.(298-300)Ggg>Agg	p.G100R	DDX11_ENST00000350437.4_Missense_Mutation_p.G100R|DDX11_ENST00000228264.6_Missense_Mutation_p.G74R|DDX11_ENST00000407793.2_Missense_Mutation_p.G100R|DDX11_ENST00000542838.1_Missense_Mutation_p.G100R|DDX11_ENST00000545668.1_Missense_Mutation_p.G100R			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	100	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCCTGCGAAGGGGCTGCAGG	0.542000										Multiple Myeloma(12;0.14)			38	58					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43626729	43626729	+	Missense_Mutation	SNP	T	T	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:43626729T>A	ENST00000332857.6	-	4	1986	c.1958A>T	c.(1957-1959)cAg>cTg	p.Q653L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTTCACCTTCTGTGCCTCCTT	0.557000													47	40					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24268276	24268276	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr16:24268276C>A	ENST00000005284.3	+	1	1403	c.201C>A	c.(199-201)tgC>tgA	p.C67*		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	67					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGAGGACCTGCTGCCTAGAAG	0.423000													27	17					4.72057e-08	5.68729e-08	1	1	0
TGFBI	7045	broad.mit.edu	37	5	135382091	135382091	+	Silent	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr5:135382091G>T	ENST00000442011.2	+	4	527	c.366G>T	c.(364-366)acG>acT	p.T122T	TGFBI_ENST00000504185.1_3'UTR|TGFBI_ENST00000305126.8_Silent_p.T122T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	122	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCTGTACACGGACCGCACGG	0.612000													12	17					9.31168e-06	1.04411e-05	1	1	0
MYH1	4619	broad.mit.edu	37	17	10399330	10399330	+	Missense_Mutation	SNP	G	G	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr17:10399330G>T	ENST00000226207.5	-	35	5200	c.5106C>A	c.(5104-5106)agC>agA	p.S1702R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1702						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CGATTTTCCTGCTCCTCTCTG	0.547000													22	25					9.22233e-05	0.000100668	1	1	0
OR2L5	81466	broad.mit.edu	37	1	248185774	248185774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr1:248185774delT	ENST00000355281.1	+	1	525	c.525delT	c.(523-525)cafs	p.H175fs	OR2L13_ENST00000366478.2_Intron	NM_001258284.1	NP_001245213.1			olfactory receptor, family 2, subfamily L, member 5																		CCATCAATCATTTTTTCTGTG	0.423													42	135	---	---	---	---					
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	RNA	INS	-	-	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708													2	4	---	---	---	---					
H1FOO	132243	broad.mit.edu	37	3	129262103	129262103	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr3:129262103delG	ENST00000324382.2	+	1	47	c.42delG	c.(40-42)tcfs	p.S14fs		NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	14					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CACCCTCCTCGACTTCCACAG	0.632													8	15	---	---	---	---					
TRBJ2-5	28624	broad.mit.edu	37	7	142494808	142494808	+	RNA	DEL	G	G	-			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr7:142494808delG	ENST00000390417.1	+	0	6																											CCGTGACCAAGAGACCCAGTA	0.731													27	8	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	3253753	3253754	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr8:3253753_3253754insT	ENST00000520002.1	-	18	3113_3114	c.2558_2559insA	c.(2557-2559)aagfs	p.K853fs	CSMD1_ENST00000602723.1_Frame_Shift_Ins_p.K853fs|CSMD1_ENST00000400186.3_Frame_Shift_Ins_p.K853fs|CSMD1_ENST00000602557.1_Frame_Shift_Ins_p.K853fs|CSMD1_ENST00000542608.1_Frame_Shift_Ins_p.K852fs|CSMD1_ENST00000539096.1_Frame_Shift_Ins_p.K852fs|CSMD1_ENST00000537824.1_Frame_Shift_Ins_p.K852fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	853	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGAGCGGCTGTTGTCAGTGGT	0.584													4	4	---	---	---	---					
ABCA2	20	broad.mit.edu	37	9	139911033	139911033	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:139911033delC	ENST00000265662.5	-	20	3063	c.2916delG	c.(2914-2916)cgfs	p.R973fs	ABCA2_ENST00000371605.3_Frame_Shift_Del_p.R972fs|ABCA2_ENST00000341511.6_Frame_Shift_Del_p.R973fs			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	972					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACCAAAGCGCCGGCTCTCCA	0.692													14	40	---	---	---	---					
TUBBP5	643224	broad.mit.edu	37	9	141069809	141069809	+	RNA	DEL	T	T	-			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr9:141069809delT	ENST00000503395.1	+	0	1023																											CTCCCGTCTCTTGCAGTTCTG	0.662													2	4	---	---	---	---					
SPO11	23626	broad.mit.edu	37	20	55917832	55917832	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chr20:55917832delA	ENST00000371263.3	+	12	1116	c.1007delA	c.(1006-1008)cafs	p.Q336fs	SPO11_ENST00000371260.4_Frame_Shift_Del_p.Q294fs|SPO11_ENST00000345868.4_Frame_Shift_Del_p.Q298fs	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	336					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AAAAGGGACCAAATGAAACTT	0.338								Editing and processing nucleases					44	53	---	---	---	---					
PHKA1	5255	broad.mit.edu	37	X	71915557	71915557	+	Splice_Site	DEL	C	C	-			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:71915557delC	ENST00000373545.3	-	4	893		c.e4+1		PHKA1_ENST00000339490.3_Splice_Site|PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000373542.4_Splice_Site			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CTTGTACTGACCTGAGGCAGT	0.493													18	49	---	---	---	---					
ATP7A	538	broad.mit.edu	37	X	77289215	77289216	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:77289215_77289216delAT	ENST00000341514.6	+	17	3562_3563	c.3407_3408delAT	c.(3406-3408)afs	p.N1136fs	ATP7A_ENST00000343533.5_Frame_Shift_Del_p.N1058fs|ATP7A_ENST00000350425.4_Frame_Shift_Del_p.N139fs	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1136					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AATAACTGGAATATAGAGGACA	0.391													39	96	---	---	---	---					
SAGE1	55511	broad.mit.edu	37	X	134994106	134994106	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L4-A4E5-01A-11D-A24P-08	TCGA-L4-A4E5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d0447f-5ca5-4218-b1c7-b833018d1e71	f7c65c18-d5ed-4fd2-b4b1-70eb39c19fa8	g.chrX:134994106delG	ENST00000535938.1	+	18	2682	c.2515delG	c.(2515-2517)ggfs	p.G839fs	SAGE1_ENST00000324447.3_Frame_Shift_Del_p.G839fs|SAGE1_ENST00000537770.1_Frame_Shift_Del_p.G463fs|SAGE1_ENST00000370709.3_Frame_Shift_Del_p.G839fs	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	839										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCGAAGGTTTGGGCAAAGTAA	0.358													24	68	---	---	---	---					
