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
GDI2	2665	broad.mit.edu	37	10	5808594	5808594	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:5808594G>A	ENST00000380191.4	-	9	1289	c.999C>T	c.(997-999)taC>taT	p.Y333Y	GDI2_ENST00000380181.3_Silent_p.Y288Y|GDI2_ENST00000380132.4_Silent_p.Y337Y|GDI2_ENST00000479928.1_5'UTR	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	333					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TCATGCAGACGTAGATATCTA	0.448000													11	72					0	0	0.008291	0	0
EBLN2	55096	broad.mit.edu	37	3	73111553	73111553	+	Silent	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:73111553C>G	ENST00000533473.1	+	1	744	c.321C>G	c.(319-321)gcC>gcG	p.A107A	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000295862.9_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	107							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						AAAAAGCAGCCAAGTCTATGC	0.423000													4	20					0	0	0.009096	0	0
COLQ	8292	broad.mit.edu	37	3	15499779	15499779	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:15499779T>C	ENST00000383788.5	-	13	993	c.868A>G	c.(868-870)Aga>Gga	p.R290G	COLQ_ENST00000435459.2_Missense_Mutation_p.R280G|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000383787.2_Missense_Mutation_p.R281G|COLQ_ENST00000603808.1_Missense_Mutation_p.R290G|COLQ_ENST00000383786.5_Missense_Mutation_p.R256G|COLQ_ENST00000383781.4_Missense_Mutation_p.R280G	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	290	Collagen-like 2.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CAAAGACATCTTCCTGGAGGC	0.507000													14	72					0	0	0.020292	0	0
OR9G4	283189	broad.mit.edu	37	11	56510406	56510406	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:56510406G>T	ENST00000302957.3	-	1	881	c.882C>A	c.(880-882)acC>acA	p.T294T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTTGATCACGGTGTAGAACA	0.438000													11	74					5.16669e-11	7.9181e-11	0.010729	1	0
TPTE2P6	374491	broad.mit.edu	37	13	25144710	25144710	+	RNA	SNP	A	A	G	rs71218558	by1000genomes	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr13:25144710A>G	ENST00000453498.1	+	0	251																											GATGTGTTTAACACAGCCCCT	0.398000													3	13					0	0	0.009096	0	0
OR2T8	343172	broad.mit.edu	37	1	248085207	248085207	+	Missense_Mutation	SNP	G	G	T	rs151007478	byFrequency	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:248085207G>T	ENST00000319968.4	+	1	888	c.888G>T	c.(886-888)aaG>aaT	p.K296N		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGAGGTGAAGGGAGCCCTGA	0.463000													63	157					1.02016e-41	1.97811e-41	0.014410	1	0
RANBP6	26953	broad.mit.edu	37	9	6015050	6015050	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr9:6015050G>A	ENST00000259569.5	-	1	568	c.558C>T	c.(556-558)gaC>gaT	p.D186D	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	186					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GAATACACTGGTCCAACAACC	0.428000													14	51					0	0	0.016723	0	0
FAM155B	27112	broad.mit.edu	37	X	68749663	68749663	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:68749663C>T	ENST00000252338.4	+	3	1325	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	429						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CGCCTCAGCCCTAGCAGGATC	0.632000													18	65					0	0	0.006122	0	0
KLHL6	89857	broad.mit.edu	37	3	183209738	183209738	+	Missense_Mutation	SNP	C	C	A	rs146413670	byFrequency	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:183209738C>A	ENST00000341319.3	-	7	1878	c.1843G>T	c.(1843-1845)Gtg>Ttg	p.V615L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	615										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCTCCGGGCACGATCCTGCGG	0.667000													12	90					5.50884e-06	6.67356e-06	0.013537	1	0
MAP4K4	9448	broad.mit.edu	37	2	102476325	102476325	+	Splice_Site	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:102476325A>T	ENST00000413150.2	+	15	1665	c.1611_splice	c.e15+1	p.E537_splice	MAP4K4_ENST00000350878.4_Splice_Site_p.E517_splice|MAP4K4_ENST00000425019.1_Splice_Site_p.E537_splice|MAP4K4_ENST00000302217.5_Splice_Site_p.E421_splice|MAP4K4_ENST00000350198.4_Splice_Site_p.E537_splice|MAP4K4_ENST00000347699.4_Splice_Site_p.E568_splice|MAP4K4_ENST00000324219.4_Splice_Site_p.E568_splice|MAP4K4_ENST00000456652.1_Splice_Site_p.E421_splice	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	622					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGAGCGCGAGAGGTATCCTCT	0.542000													3	12					0	0	0.004672	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239793	5239793	+	Splice_Site	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:5239793G>T	ENST00000274181.7	+	16	2416		c.e16-1			NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCTTTATCTAGAGTATTATCA	0.458000													32	105					1.03484e-13	1.71395e-13	0.023175	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													8	153					0	0	0.008291	0	0
SLC3A1	6519	broad.mit.edu	37	2	44508605	44508605	+	Silent	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:44508605A>G	ENST00000260649.6	+	3	766	c.690A>G	c.(688-690)acA>acG	p.T230T	SLC3A1_ENST00000410056.3_Silent_p.T230T|SLC3A1_ENST00000409741.1_Silent_p.T230T|SLC3A1_ENST00000409229.3_Silent_p.T230T|SLC3A1_ENST00000409387.1_Silent_p.T230T	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	230					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGACACGGACAGGAAAATATA	0.363000													10	22					0	0	0.008291	0	0
OR6V1	346517	broad.mit.edu	37	7	142750269	142750269	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:142750269G>A	ENST00000418316.1	+	1	853	c.832G>A	c.(832-834)Gtt>Att	p.V278I		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GGTGACTTCAGTTCTCACCCC	0.493000													13	61					0	0	0.013537	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716657	153716657	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:153716657C>A	ENST00000263512.4	-	2	1121	c.623G>T	c.(622-624)gGg>gTg	p.G208V	SLC10A3_ENST00000393586.1_Missense_Mutation_p.G263V|SLC10A3_ENST00000369649.4_Missense_Mutation_p.G179V|SLC10A3_ENST00000393587.4_Missense_Mutation_p.G208V	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	208					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACTTTGCACCCAAACGAACA	0.587000													24	156					1.9806e-07	2.6408e-07	0.014323	1	0
OR5D13	390142	broad.mit.edu	37	11	55541127	55541127	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:55541127G>A	ENST00000361760.1	+	1	214	c.214G>A	c.(214-216)Gac>Aac	p.D72N		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTCCTTGACAGACTTCTGTTT	0.388000													27	110					0	0	0.024334	0	0
CCDC88C	440193	broad.mit.edu	37	14	91749723	91749723	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:91749723G>A	ENST00000389857.6	-	26	4666	c.4580C>T	c.(4579-4581)aCa>aTa	p.T1527I	CCDC88C_ENST00000331194.7_Missense_Mutation_p.T51I	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1527					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGAAGGGGCTGTAGTGGTGGC	0.647000													5	31					0	0	0.014758	0	0
MTR	4548	broad.mit.edu	37	1	237024505	237024505	+	Missense_Mutation	SNP	T	T	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:237024505T>G	ENST00000366577.5	+	20	2518	c.2124T>G	c.(2122-2124)atT>atG	p.I708M	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	708	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCAATATAATTGAAGGACCCC	0.343000													13	75					0	0	0.020292	0	0
C17orf75	64149	broad.mit.edu	37	17	30665284	30665284	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:30665284C>A	ENST00000577809.1	-	4	483	c.434G>T	c.(433-435)cGt>cTt	p.R145L	C17orf75_ENST00000225805.4_Missense_Mutation_p.R145L|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	145					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TGAAGGGTTACGTTCAGAGTC	0.373000													27	137					8.24728e-16	1.44897e-15	0.024334	1	0
KCND2	3751	broad.mit.edu	37	7	119915431	119915431	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:119915431G>T	ENST00000331113.4	+	1	1710	c.745G>T	c.(745-747)Gct>Tct	p.A249S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	249					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCTTCGCCTGGCTGCAGCGCC	0.517000													13	64					5.50884e-06	6.67356e-06	0.013537	1	0
DGKK	139189	broad.mit.edu	37	X	50163469	50163469	+	RNA	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:50163469G>T	ENST00000376025.2	-	0	933							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTCCGGTTGGGTGCAGCCAGA	0.393000													19	106					1.00905e-13	1.6756e-13	0.008871	1	0
GPRASP2	114928	broad.mit.edu	37	X	101971085	101971085	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:101971085A>T	ENST00000543253.1	+	5	2207	c.1288A>T	c.(1288-1290)Agt>Tgt	p.S430C	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S430C|GPRASP2_ENST00000535209.1_Missense_Mutation_p.S430C	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						GGAAAAGTCCAGTTTGGGGGC	0.577000													18	107					0	0	0.033300	0	0
OTX2	5015	broad.mit.edu	37	14	57268600	57268600	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:57268600C>A	ENST00000339475.5	-	5	1023	c.747G>T	c.(745-747)caG>caT	p.Q249H	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.Q241H|OTX2_ENST00000408990.3_Missense_Mutation_p.Q241H	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	241					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CTCCATATCCCTGGGTGGAAA	0.512000													28	69					1.12875e-08	1.60601e-08	0.030593	1	0
URGCP	55665	broad.mit.edu	37	7	43916860	43916860	+	Silent	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:43916860T>C	ENST00000336086.6	-	4	4309	c.2073A>G	c.(2071-2073)acA>acG	p.T691T	RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Silent_p.T691T|URGCP_ENST00000447717.3_Silent_p.T691T|URGCP_ENST00000443736.1_Silent_p.T691T|URGCP_ENST00000453200.1_Silent_p.T734T|URGCP_ENST00000402306.3_Silent_p.T725T			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	734					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTCAGCCACTGTGATGAGCT	0.612000													19	60					0	0	0.007413	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481091	140481091	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140481091A>T	ENST00000231130.2	+	1	858	c.858A>T	c.(856-858)gaA>gaT	p.E286D	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		286	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGCTTCTGAAGAAATTCGCA	0.363000													14	73					0	0	0.020292	0	0
C6orf118	168090	broad.mit.edu	37	6	165715274	165715274	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:165715274C>A	ENST00000543069.1	-	2	806	c.225G>T	c.(223-225)ctG>ctT	p.L75L	C6orf118_ENST00000230301.8_Silent_p.L179L			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	179										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCAAGTCGGGCAGCCGGAGTT	0.647000													22	69					1.96292e-10	2.94438e-10	0.010504	1	0
TEX14	56155	broad.mit.edu	37	17	56694958	56694958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:56694958G>A	ENST00000389934.3	-	6	694	c.577C>T	c.(577-579)Cga>Tga	p.R193*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.R193*|TEX14_ENST00000240361.8_Nonsense_Mutation_p.R193*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	193						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTAAGCAGTCGGTTAGGAGAG	0.393000													5	77					0	0	0.029380	0	0
OR51E2	81285	broad.mit.edu	37	11	4703067	4703067	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:4703067C>A	ENST00000396950.3	-	2	1114	c.875G>T	c.(874-876)gGt>gTt	p.G292V		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGTTTTGGCACCATAGATGAT	0.507000													10	50					7.48243e-07	9.65279e-07	0.006214	1	0
LAIR2	3904	broad.mit.edu	37	19	55019118	55019118	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:55019118G>A	ENST00000301202.2	+	3	205	c.83G>A	c.(82-84)aGa>aAa	p.R28K	LAIR2_ENST00000351841.2_Missense_Mutation_p.R28K	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	28						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)		GCCCTTCCCAGACCCTCCATC	0.567000													38	156					0	0	0.025465	0	0
MYT1L	23040	broad.mit.edu	37	2	1983535	1983535	+	Silent	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:1983535G>C	ENST00000399161.2	-	6	762	c.15C>G	c.(13-15)acC>acG	p.T5T	MYT1L_ENST00000428368.2_Silent_p.T5T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	5					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCTTCTCCTCGGTGTCCACCT	0.617000													9	25					0	0	0.006214	0	0
SPTA1	6708	broad.mit.edu	37	1	158645987	158645987	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:158645987C>A	ENST00000368148.3	-	8	1236	c.1056G>T	c.(1054-1056)tgG>tgT	p.W352C	SPTA1_ENST00000368147.3_Missense_Mutation_p.W352C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	352					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)					GAATATGCTCCCAGCTGGAGA	0.488000													39	100					5.71845e-15	9.75049e-15	0.023175	1	0
XIRP2	129446	broad.mit.edu	37	2	168115313	168115313	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:168115313G>A	ENST00000409728.1	+	11	2445	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	XIRP2_ENST00000409043.1_Missense_Mutation_p.E753K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E786K|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.E753K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E531K|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			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						TGAGAAGTTAGAAAATACATC	0.343000													9	34					0	0	0.010729	0	0
NLRP10	338322	broad.mit.edu	37	11	7982838	7982838	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:7982838G>T	ENST00000328600.2	-	2	482	c.321C>A	c.(319-321)cgC>cgA	p.R107R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	107							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTCTAGGCAGCGCACATGCT	0.512000													18	67					3.51602e-12	5.63271e-12	0.008871	1	0
RBM41	55285	broad.mit.edu	37	X	106310791	106310791	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:106310791G>T	ENST00000372487.1	-	7	1234	c.1208C>A	c.(1207-1209)gCt>gAt	p.A403D	RBM41_ENST00000372479.3_Missense_Mutation_p.A403D	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	403							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GCTACCTGTAGCACATGATAT	0.368000													35	230					2.09667e-21	3.9105e-21	0.017118	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			3	10					0	0	0.004672	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414623	121414623	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:121414623C>A	ENST00000393667.3	-	13	4857	c.4747G>T	c.(4747-4749)Ggt>Tgt	p.G1583C	GOLGB1_ENST00000340645.5_Missense_Mutation_p.G1578C	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1578					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCAGTAAGACCCTCTAGAGCT	0.383000													14	91					9.31168e-06	1.1174e-05	0.016723	1	0
SLC7A3	84889	broad.mit.edu	37	X	70145939	70145939	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:70145939A>T	ENST00000374299.3	-	11	1854	c.1710T>A	c.(1708-1710)ttT>ttA	p.F570L	SLC7A3_ENST00000298085.4_Missense_Mutation_p.F570L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	570					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCCAGACCCCAAATCGGGCCC	0.488000													12	43					0	0	0.010729	0	0
GFRA1	2674	broad.mit.edu	37	10	118030531	118030531	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:118030531T>C	ENST00000439649.3	-	3	504	c.137A>G	c.(136-138)tAc>tGc	p.Y46C	GFRA1_ENST00000355422.6_Missense_Mutation_p.Y46C|GFRA1_ENST00000369236.1_Missense_Mutation_p.Y46C	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	46					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TAGCGTGCGGTACTTGGTGCT	0.642000													7	67					0	0	0.003080	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212836	26212836	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:26212836C>T	ENST00000379034.1	+	2	1022	c.873C>T	c.(871-873)ctC>ctT	p.L291L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	291	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGATGTCGCTCCTGGTTGTGA	0.542000													19	267					0	0	0.008871	0	0
OR5J2	282775	broad.mit.edu	37	11	55944520	55944520	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:55944520G>A	ENST00000312298.1	+	1	427	c.427G>A	c.(427-429)Gag>Aag	p.E143K		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AAAGTGTGTGGAGCTTGTCAC	0.458000													22	89					0	0	0.010504	0	0
FTMT	94033	broad.mit.edu	37	5	121188294	121188294	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:121188294G>T	ENST00000321339.1	+	1	645	c.636G>T	c.(634-636)gtG>gtT	p.V212V		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	212	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GTGACCACGTGCACAACTTAG	0.493000													29	175					6.38683e-12	1.01551e-11	0.037714	1	0
IL7R	3575	broad.mit.edu	37	5	35871178	35871178	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:35871178G>T	ENST00000303115.3	+	4	529	c.400G>T	c.(400-402)Gac>Tac	p.D134Y	IL7R_ENST00000506850.1_Missense_Mutation_p.D134Y|IL7R_ENST00000343305.4_Missense_Mutation_p.D134Y	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	134	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GGCTCCTTTTGACCTGAGTGT	0.363000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						14	44					1.49906e-05	1.77212e-05	0.020292	1	0
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:94030836C>A	ENST00000265140.5	+	21	3415	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	999										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348000													9	46					1.08611e-07	1.46039e-07	0.010729	1	0
SF3B1	23451	broad.mit.edu	37	2	198274687	198274687	+	Silent	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:198274687A>G	ENST00000335508.5	-	7	802	c.711T>C	c.(709-711)ggT>ggC	p.G237G		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	237	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTTTGCACGACCTGGTGTCT	0.473000			Mis		myelodysplastic syndrome								18	69					0	0	0.006122	0	0
P2RY10	27334	broad.mit.edu	37	X	78216850	78216850	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:78216850C>T	ENST00000171757.2	+	4	1113	c.833C>T	c.(832-834)cCc>cTc	p.P278L	P2RY10_ENST00000544091.1_Missense_Mutation_p.P278L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	278						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AGCAGTTGTCCCGTTGTCCGA	0.418000													22	251					0	0	0.014323	0	0
CETN2	1069	broad.mit.edu	37	X	151996441	151996441	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:151996441C>T	ENST00000370277.3	-	5	529	c.463G>A	c.(463-465)Gga>Aga	p.G155R	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	155	EF-hand 4.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTGACCTCTCCATCTCCATCT	0.373000								Direct reversal of damage;Nucleotide excision repair (NER)					20	110					0	0	0.010504	0	0
RBM33	155435	broad.mit.edu	37	7	155538132	155538132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:155538132G>T	ENST00000401878.3	+	14	3013	c.2815G>T	c.(2815-2817)Gag>Tag	p.E939*		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	939							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGCAGATGTGGAGGAGCCAGC	0.552000													7	28					2.0095e-06	2.51583e-06	0.029380	1	0
ADH1B	125	broad.mit.edu	37	4	100231927	100231927	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:100231927C>T	ENST00000305046.8	-	8	1165	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	ADH1B_ENST00000394887.3_Silent_p.G326G			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	366					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCTACCTTTTCCCAGAGTGAA	0.338000													13	41					0	0	0.013537	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947124	57947124	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:57947124G>T	ENST00000335397.3	+	3	524	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CGCTTTCATGGACGTCTGCTA	0.498000													29	144					1.7881e-09	2.59642e-09	0.037714	1	0
OLFM4	10562	broad.mit.edu	37	13	53624469	53624469	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr13:53624469A>T	ENST00000219022.2	+	5	1174	c.1096A>T	c.(1096-1098)Aat>Tat	p.N366Y		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	366	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AACTCTCCCTAATGCTGCCTA	0.403000													30	140					0	0	0.037714	0	0
MYH13	8735	broad.mit.edu	37	17	10247257	10247257	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:10247257G>C	ENST00000418404.3	-	15	1917	c.1754C>G	c.(1753-1755)gCc>gGc	p.A585G	MYH13_ENST00000252172.4_Missense_Mutation_p.A585G|MYH13_ENST00000570743.1_Missense_Mutation_p.A585G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	585	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						CACGGTGCCGGCATAGTGCAC	0.547000													22	78					0	0	0.018920	0	0
CALB1	793	broad.mit.edu	37	8	91075512	91075512	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:91075512G>C	ENST00000265431.3	-	8	724	c.543C>G	c.(541-543)ttC>ttG	p.F181L	CALB1_ENST00000518457.1_Missense_Mutation_p.F124L	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	181						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAAGTACCTGGAATTTAAGAA	0.284000													5	19					0	0	0.014758	0	0
ARID1B	57492	broad.mit.edu	37	6	157528318	157528318	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:157528318G>T	ENST00000346085.5	+	20	6044	c.6043G>T	c.(6043-6045)Gac>Tac	p.D2015Y	ARID1B_ENST00000350026.5_Missense_Mutation_p.D2002Y|ARID1B_ENST00000367148.1_Missense_Mutation_p.D2055Y|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1997Y	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2002					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)		GTGGTGGTGGGACTGCCTCGA	0.547000													19	126					1.01871e-10	1.5463e-10	0.008871	1	0
SUN1	23353	broad.mit.edu	37	7	909028	909028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:909028C>T	ENST00000456758.2	+	23	2590	c.2590C>T	c.(2590-2592)Cag>Tag	p.Q864*	SUN1_ENST00000401592.1_Nonsense_Mutation_p.Q675*|SUN1_ENST00000452783.2_Nonsense_Mutation_p.Q572*|SUN1_ENST00000389574.3_Nonsense_Mutation_p.Q592*|SUN1_ENST00000413514.2_Nonsense_Mutation_p.Q473*|SUN1_ENST00000425407.2_Nonsense_Mutation_p.Q592*|SUN1_ENST00000405266.1_Nonsense_Mutation_p.Q712*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	702					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAAAGGCTCCCAGGGGTACCT	0.547000													33	155					0	0	0.013726	0	0
CD33	945	broad.mit.edu	37	19	51742847	51742847	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:51742847G>T	ENST00000262262.4	+	7	1020	c.999G>T	c.(997-999)gaG>gaT	p.E333D	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.E206D	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	333					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CTACTGTGGAGATGGATGAGG	0.507000													8	44					0.00307968	0.00333676	0.003080	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140723667	140723667	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140723667C>T	ENST00000253812.6	+	1	67	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGGGACGCTGTGCGAAAC	0.557000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	220					0	0	0.036044	0	0
DTX2	113878	broad.mit.edu	37	7	76111844	76111844	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:76111844G>A	ENST00000324432.5	+	5	798	c.288G>A	c.(286-288)cgG>cgA	p.R96R	DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000413936.2_Silent_p.R96R|DTX2_ENST00000446600.1_Silent_p.R5R|DTX2_ENST00000307569.8_Silent_p.R96R|DTX2_ENST00000446820.2_Silent_p.R96R|DTX2_ENST00000430490.2_Silent_p.R96R	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	96	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GGGCTGTGCGGAGACACCTGT	0.552000													20	90					0	0	0.008871	0	0
PNMA5	114824	broad.mit.edu	37	X	152159318	152159318	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:152159318G>T	ENST00000439251.1	-	2	1263	c.825C>A	c.(823-825)caC>caA	p.H275Q	PNMA5_ENST00000361887.5_Missense_Mutation_p.H275Q|PNMA5_ENST00000452693.1_Missense_Mutation_p.H275Q|PNMA5_ENST00000535214.1_Missense_Mutation_p.H275Q	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	275					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGCTCTTGTGCACGGCTT	0.567000													26	96					2.27525e-19	4.20657e-19	0.021523	1	0
USH2A	7399	broad.mit.edu	37	1	216369929	216369929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:216369929G>T	ENST00000366943.2	-	19	4603	c.4217C>A	c.(4216-4218)tCa>tAa	p.S1406*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.S1406*|USH2A_ENST00000307340.3_Nonsense_Mutation_p.S1406*|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1406	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTTGAGGTGATTGTTCAGA	0.393000										HNSCC(13;0.011)			14	69					1.15088e-07	1.53773e-07	0.028581	1	0
HECTD4	283450	broad.mit.edu	37	12	112669411	112669411	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:112669411T>C	ENST00000550722.1	-	39	6063	c.5668A>G	c.(5668-5670)Atc>Gtc	p.I1890V	HECTD4_ENST00000430131.2_Missense_Mutation_p.I1614V|HECTD4_ENST00000377560.5_Missense_Mutation_p.I1864V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCTGGGTTGATAGACTCTACA	0.532000													16	58					0	0	0.033300	0	0
NRAP	4892	broad.mit.edu	37	10	115374047	115374047	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:115374047G>T	ENST00000369358.4	-	29	3463	c.3219C>A	c.(3217-3219)taC>taA	p.Y1073*	NRAP_ENST00000359988.3_Nonsense_Mutation_p.Y1065*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.Y1038*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.Y1030*			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1065						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATGCCTCTTTGTATTTGTACT	0.458000													5	73					0.014758	0.0154123	0.014758	1	0
LYAR	55646	broad.mit.edu	37	4	4275328	4275328	+	Missense_Mutation	SNP	C	C	A	rs79312020	by1000genomes	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:4275328C>A	ENST00000343470.4	-	8	1141	c.901G>T	c.(901-903)Gat>Tat	p.D301Y	LYAR_ENST00000452476.1_Missense_Mutation_p.D301Y	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	301	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGAGCCTCATCGTCTTCTGGT	0.478000													17	84					3.52763e-06	4.35645e-06	0.033300	1	0
CSMD3	114788	broad.mit.edu	37	8	113402960	113402960	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:113402960G>T	ENST00000297405.5	-	36	6111	c.5867C>A	c.(5866-5868)cCt>cAt	p.P1956H	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1852H|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1886H|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1916H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1956	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAGGCTCAGGGTATCCAGG	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	36					6.81908e-15	1.15961e-14	0.020292	1	0
HCN1	348980	broad.mit.edu	37	5	45262209	45262209	+	Silent	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:45262209T>C	ENST00000303230.4	-	8	2544	c.2487A>G	c.(2485-2487)gcA>gcG	p.A829A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	829						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						TCCTGCCCCCTGCCTGAAGGC	0.672000													13	50					0	0	0.016723	0	0
ZNF34	80778	broad.mit.edu	37	8	145999678	145999678	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:145999678G>A	ENST00000429371.2	-	6	746	c.593C>T	c.(592-594)tCa>tTa	p.S198L	ZNF34_ENST00000343459.4_Missense_Mutation_p.S219L	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TGTTTTTTTTGACCTGTGTAC	0.358000													8	30					0	0	0.003080	0	0
PRRC2C	23215	broad.mit.edu	37	1	171504671	171504671	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:171504671G>A	ENST00000367742.3	+	13	2220	c.1978G>A	c.(1978-1980)Gct>Act	p.A660T	PRRC2C_ENST00000338920.4_Missense_Mutation_p.A658T|PRRC2C_ENST00000426496.2_Missense_Mutation_p.A658T|PRRC2C_ENST00000392078.3_Missense_Mutation_p.A660T			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	658							protein C-terminus binding										ACCTCGGCCGGCTGTATTATC	0.443000													25	151					0	0	0.024334	0	0
NPEPPS	9520	broad.mit.edu	37	17	45668224	45668224	+	Missense_Mutation	SNP	T	T	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:45668224T>G	ENST00000322157.4	+	10	1474	c.1237T>G	c.(1237-1239)Tta>Gta	p.L413V	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.L333V|NPEPPS_ENST00000530173.1_Missense_Mutation_p.L409V	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	413					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GCTTGACGCCTTAGATAACAG	0.408000													12	161					0	0	0.028581	0	0
AS3MT	57412	broad.mit.edu	37	10	104638606	104638606	+	Splice_Site	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:104638606G>T	ENST00000369880.3	+	9	820	c.742_splice	c.e9-1	p.G248_splice	C10ORF32_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	248					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CTATTTTTAGGTGACTGTCGT	0.413000													10	33					7.48243e-07	9.65279e-07	0.006214	1	0
RBM15	64783	broad.mit.edu	37	1	110883214	110883214	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:110883214G>T	ENST00000369784.3	+	1	2087	c.1187G>T	c.(1186-1188)cGc>cTc	p.R396L	RBM15_ENST00000602849.1_Missense_Mutation_p.R396L|RBM15_ENST00000487146.2_Missense_Mutation_p.R396L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	396	RRM 2.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCGTTTGATCGCTTTGGAGTC	0.478000			T	MKL1	acute megakaryocytic leukemia								13	54					9.05144e-12	1.42847e-11	0.016723	1	0
GPRASP2	114928	broad.mit.edu	37	X	101970569	101970569	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:101970569C>A	ENST00000543253.1	+	5	1691	c.772C>A	c.(772-774)Cac>Aac	p.H258N	GPRASP2_ENST00000332262.5_Missense_Mutation_p.H258N|GPRASP2_ENST00000535209.1_Missense_Mutation_p.H258N	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						CAGGTCCAGGCACAGGGCTAA	0.532000													34	155					1.04352e-10	1.58018e-10	0.017118	1	0
UST	10090	broad.mit.edu	37	6	149340286	149340286	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:149340286G>T	ENST00000367463.4	+	6	796	c.693G>T	c.(691-693)gaG>gaT	p.E231D		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	231					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ATATCAATGAGTGTATTCTTG	0.408000													10	72					2.17888e-05	2.55676e-05	0.006214	1	0
DSG3	1830	broad.mit.edu	37	18	29056010	29056010	+	Silent	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:29056010T>C	ENST00000257189.4	+	16	2870	c.2787T>C	c.(2785-2787)ggT>ggC	p.G929G		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	929					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGCAGCATGGTAACTATTTAG	0.498000													21	97					0	0	0.008871	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800718	185800718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:185800718C>T	ENST00000302277.6	+	4	1189	c.595C>T	c.(595-597)Caa>Taa	p.Q199*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	199						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAAAATAACCAAGTTGGGGA	0.398000													5	53					0	0	0.014758	0	0
TMEM145	284339	broad.mit.edu	37	19	42821947	42821947	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:42821947G>C	ENST00000598766.1	+	12	1059	c.1059G>C	c.(1057-1059)tgG>tgC	p.W353C	TMEM145_ENST00000301204.3_Missense_Mutation_p.W329C			Q8NBT3	TM145_HUMAN	transmembrane protein 145	329						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CCTACGTGTGGTTCTGCTATG	0.557000													22	77					0	0	0.014323	0	0
ADRB2	154	broad.mit.edu	37	5	148206928	148206928	+	Missense_Mutation	SNP	C	C	A	rs147102529		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:148206928C>A	ENST00000305988.4	+	1	773	c.534C>A	c.(532-534)caC>caA	p.H178Q		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	178					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GGGCCACCCACCAGGAAGCCA	0.532000													24	176					5.45024e-15	9.31815e-15	0.018920	1	0
NDUFV3	4731	broad.mit.edu	37	21	44317035	44317035	+	Splice_Site	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr21:44317035A>T	ENST00000354250.2	+	2	117		c.e2-1		NDUFV3_ENST00000460259.1_Splice_Site|NDUFV3_ENST00000340344.3_Splice_Site	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TTCTTTTGTCAGACTATGCTC	0.388000													3	57					0	0	0.021553	0	0
LUZP4	51213	broad.mit.edu	37	X	114540908	114540908	+	Nonsense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:114540908C>T	ENST00000371920.3	+	4	488	c.481C>T	c.(481-483)Cga>Tga	p.R161*	LUZP4_ENST00000451986.2_Nonsense_Mutation_p.R79*	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	161						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TCATTCTGAGCGATCCCGAAA	0.463000													21	74					0	0	0.012319	0	0
ATRX	546	broad.mit.edu	37	X	76890137	76890137	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:76890137G>T	ENST00000373344.5	-	17	4971	c.4757C>A	c.(4756-4758)cCa>cAa	p.P1586Q	ATRX_ENST00000395603.3_Missense_Mutation_p.P1548Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1586	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCTGAACCTGGAGATTTCTT	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						15	163					4.75885e-15	8.20224e-15	0.033300	1	0
FCHO1	23149	broad.mit.edu	37	19	17892527	17892527	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:17892527C>A	ENST00000594202.1	+	23	2114	c.1835C>A	c.(1834-1836)tCc>tAc	p.S612Y	FCHO1_ENST00000596536.1_Missense_Mutation_p.S612Y|FCHO1_ENST00000596951.1_Missense_Mutation_p.S612Y|FCHO1_ENST00000597512.1_Missense_Mutation_p.S619Y|FCHO1_ENST00000600676.1_Missense_Mutation_p.S612Y|FCHO1_ENST00000389133.4_Missense_Mutation_p.S612Y|FCHO1_ENST00000252771.7_Missense_Mutation_p.S612Y|FCHO1_ENST00000539407.1_Missense_Mutation_p.S612Y|FCHO1_ENST00000595033.1_Missense_Mutation_p.S562Y	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	612										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCAGGAGTCTCCCGGGGTCCG	0.632000													31	129					4.31634e-10	6.42902e-10	0.012213	1	0
TMPRSS11D	9407	broad.mit.edu	37	4	68688116	68688116	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:68688116G>T	ENST00000283916.6	-	10	1294	c.1196C>A	c.(1195-1197)cCa>cAa	p.P399Q	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.P282Q	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	399	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATACACTCCTGGCTTATCCGG	0.517000													20	135					4.96729e-08	6.77939e-08	0.008871	1	0
MIR20B	574032	broad.mit.edu	37	X	133303882	133303882	+	RNA	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:133303882A>T	ENST00000384977.1	-	0	25					NR_029950.1																						TGCCAAAACTACCTGCACTAT	0.418000													15	100					0	0	0.028581	0	0
KCNH5	27133	broad.mit.edu	37	14	63417043	63417043	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:63417043C>A	ENST00000322893.7	-	7	1445	c.1177G>T	c.(1177-1179)Gct>Tct	p.A393S	KCNH5_ENST00000394964.2_Missense_Mutation_p.A335S|KCNH5_ENST00000420622.2_Missense_Mutation_p.A393S|KCNH5_ENST00000394968.1_Missense_Mutation_p.A335S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	393					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATGCTCAAAGCCAGCTGGTAG	0.498000													15	68					1.52009e-12	2.46e-12	0.024245	1	0
THG1L	54974	broad.mit.edu	37	5	157158616	157158616	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:157158616G>A	ENST00000231198.7	+	1	412	c.168G>A	c.(166-168)cgG>cgA	p.R56R		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	56					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTAGTGCGGCTGGACGGCC	0.622000													29	165					0	0	0.037714	0	0
RETSAT	54884	broad.mit.edu	37	2	85576626	85576626	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:85576626C>A	ENST00000295802.4	-	5	990	c.878G>T	c.(877-879)cGa>cTa	p.R293L	RETSAT_ENST00000263854.6_Missense_Mutation_p.R293L|RETSAT_ENST00000457495.2_Missense_Mutation_p.R232L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	293					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GGAACCCCCTCGGGGATAAAA	0.577000													14	67					3.27435e-08	4.50755e-08	0.020292	1	0
SPTA1	6708	broad.mit.edu	37	1	158627314	158627314	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:158627314G>T	ENST00000368148.3	-	19	2938	c.2758C>A	c.(2758-2760)Cct>Act	p.P920T	SPTA1_ENST00000368147.3_Missense_Mutation_p.P920T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	920					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)					TCTACAATAGGTTCCTTCTCT	0.458000													27	153					4.72057e-08	6.45653e-08	0.021523	1	0
MORC4	79710	broad.mit.edu	37	X	106186365	106186365	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:106186365G>C	ENST00000355610.4	-	15	2030	c.1756C>G	c.(1756-1758)Cct>Gct	p.P586A	MORC4_ENST00000255495.7_Missense_Mutation_p.P586A|MORC4_ENST00000535534.1_Missense_Mutation_p.P334A	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	586							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TCTAGAGAAGGTGTTGTCATC	0.453000													30	169					0	0	0.037714	0	0
COMMD1	150684	broad.mit.edu	37	2	62228008	62228008	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:62228008G>C	ENST00000311832.5	+	2	385	c.353G>C	c.(352-354)gGg>gCg	p.G118A	COMMD1_ENST00000538736.1_Missense_Mutation_p.G118A|COMMD1_ENST00000472729.1_3'UTR	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	118	COMM.				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			TGGAATAGCGGGCTTCGGGGC	0.502000													16	49					0	0	0.028581	0	0
EPHA10	284656	broad.mit.edu	37	1	38227387	38227387	+	Silent	SNP	G	G	T	rs143929786		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:38227387G>T	ENST00000373048.4	-	3	539	c.540C>A	c.(538-540)atC>atA	p.I180I	EPHA10_ENST00000427468.2_Silent_p.I180I|EPHA10_ENST00000319637.6_Silent_p.I180I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	180						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGAGCGGTCCGATCTCGCGCA	0.662000													14	70					3.27435e-08	4.50755e-08	0.020292	1	0
ERBB4	2066	broad.mit.edu	37	2	212537946	212537946	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:212537946C>A	ENST00000342788.4	-	14	1969	c.1659G>T	c.(1657-1659)gtG>gtT	p.V553V	ERBB4_ENST00000436443.1_Silent_p.V553V|ERBB4_ENST00000402597.1_Silent_p.V553V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	553	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGTCACACTCCACACAGATGG	0.468000										TSP Lung(8;0.080)			13	76					2.62699e-14	4.44352e-14	0.024245	1	0
ELSPBP1	64100	broad.mit.edu	37	19	48517427	48517427	+	Splice_Site	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:48517427G>T	ENST00000339841.2	+	3	248		c.e3-1		ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1						single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CTGCCCTTCAGGGATGCATGA	0.453000													40	116					3.7052e-28	7.01342e-28	0.013114	1	0
MYH8	4626	broad.mit.edu	37	17	10295913	10295913	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:10295913C>A	ENST00000403437.2	-	38	5608	c.5514G>T	c.(5512-5514)gaG>gaT	p.E1838D	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1838					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTTAACAGCCTCTGCATTAC	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				17	106					8.10497e-08	1.10145e-07	0.010504	1	0
FANCB	2187	broad.mit.edu	37	X	14861873	14861873	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:14861873G>A	ENST00000398334.1	-	10	2663	c.2396C>T	c.(2395-2397)gCg>gTg	p.A799V	FANCB_ENST00000324138.3_Missense_Mutation_p.A799V	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	799					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TAAAGCAGCCGCGACGACACT	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				26	85					0	0	0.030593	0	0
OR2D2	120776	broad.mit.edu	37	11	6913354	6913354	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:6913354G>C	ENST00000299459.2	-	1	476	c.378C>G	c.(376-378)atC>atG	p.I126M		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAGGATTGCAGATTGCAACAT	0.493000													14	63					0	0	0.024245	0	0
IKBKE	9641	broad.mit.edu	37	1	206666379	206666379	+	Missense_Mutation	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:206666379A>G	ENST00000367120.3	+	19	2232	c.1859A>G	c.(1858-1860)cAc>cGc	p.H620R	IKBKE_ENST00000537984.1_Missense_Mutation_p.H535R|IKBKE_ENST00000462698.1_3'UTR|C1orf147_ENST00000367119.1_Missense_Mutation_p.V52A	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	620					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ACCAGGAACCACCTGCGCCTG	0.582000													4	16					0	0	0.014758	0	0
SYNE3	161176	broad.mit.edu	37	14	95899631	95899631	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:95899631T>C	ENST00000334258.5	-	15	2668	c.2654A>G	c.(2653-2655)tAc>tGc	p.Y885C	SYNE3_ENST00000557275.1_Missense_Mutation_p.Y880C|SYNE3_ENST00000554873.1_Missense_Mutation_p.Y642C	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CTTGGACTTGTACAGCATCCA	0.572000													24	105					0	0	0.021523	0	0
CTNND2	1501	broad.mit.edu	37	5	11117652	11117652	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:11117652G>T	ENST00000304623.8	-	13	2376	c.2187C>A	c.(2185-2187)gcC>gcA	p.A729A	CTNND2_ENST00000511377.1_Silent_p.A638A|CTNND2_ENST00000503622.1_Silent_p.A392A|CTNND2_ENST00000458100.2_Silent_p.A296A|CTNND2_ENST00000359640.2_Silent_p.A729A|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	729					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCCTTCTGCGGGCCTCCTCTC	0.537000													20	125					5.03518e-11	7.75394e-11	0.007413	1	0
HIGD2B	123346	broad.mit.edu	37	15	72968489	72968489	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:72968489C>A	ENST00000311755.3	-	3	750	c.227G>T	c.(226-228)cGg>cTg	p.R76L						HIG1 hypoxia inducible domain family, member 2B																		CATCATAAGCCGTGAACATTG	0.607000													7	19					0.000157383	0.000178424	0.003080	1	0
AMPH	273	broad.mit.edu	37	7	38433709	38433709	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:38433709C>T	ENST00000356264.2	-	18	1719	c.1504G>A	c.(1504-1506)Ggg>Agg	p.G502R	AMPH_ENST00000325590.5_Missense_Mutation_p.G460R|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Missense_Mutation_p.G460R	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	502					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACTCCTTCCCCGGCAGGGACA	0.582000													27	147					0	0	0.034045	0	0
TCP10L2	401285	broad.mit.edu	37	6	167595301	167595301	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:167595301G>A	ENST00000366832.2	+	8	1090	c.959G>A	c.(958-960)cGa>cAa	p.R320Q		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	320										endometrium(1)|kidney(2)|lung(3)	6						GAAGAAAAACGACATCCAAAT	0.527000													5	42					0	0	0.014758	0	0
OR4M2	390538	broad.mit.edu	37	15	22368830	22368830	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:22368830C>G	ENST00000332663.2	+	1	353	c.255C>G	c.(253-255)ttC>ttG	p.F85L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCATAGACTTCTTTGTGGAGA	0.443000													17	522					0	0	0.028581	0	0
EPHB6	2051	broad.mit.edu	37	7	142561931	142561931	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:142561931C>A	ENST00000392957.2	+	7	1160	c.373C>A	c.(373-375)Cgg>Agg	p.R125R	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.R125R	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	125						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGGCACCTGCCGGGAGACCTT	0.637000													35	131					3.11337e-16	5.51562e-16	0.013726	1	0
CDH17	1015	broad.mit.edu	37	8	95178176	95178176	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:95178176A>T	ENST00000027335.3	-	10	1219	c.1095T>A	c.(1093-1095)caT>caA	p.H365Q	CDH17_ENST00000450165.2_Missense_Mutation_p.H365Q|CDH17_ENST00000441892.2_Missense_Mutation_p.H151Q	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	365	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATCCCTGTCATGTGCAGTAA	0.408000													10	38					0	0	0.010729	0	0
MAN2A1	4124	broad.mit.edu	37	5	109026153	109026153	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:109026153G>T	ENST00000261483.4	+	1	1087	c.35G>T	c.(34-36)aGt>aTt	p.S12I		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	12					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GTGTTCGGCAGTGCGATCTTC	0.582000													6	29					2.0095e-06	2.51583e-06	0.029380	1	0
CCNB3	85417	broad.mit.edu	37	X	50053979	50053979	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:50053979C>T	ENST00000376042.1	+	6	3108	c.2810C>T	c.(2809-2811)cCc>cTc	p.P937L	CCNB3_ENST00000276014.7_Missense_Mutation_p.P937L|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	937					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AATGAGAAACCCACCACTGGG	0.453000													14	92					0	0	0.024245	0	0
SYNE1	23345	broad.mit.edu	37	6	152737815	152737815	+	Silent	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:152737815T>C	ENST00000367255.5	-	41	6358	c.5757A>G	c.(5755-5757)ttA>ttG	p.L1919L	SYNE1_ENST00000448038.1_Silent_p.L1926L|SYNE1_ENST00000341594.5_Silent_p.L1956L|SYNE1_ENST00000265368.4_Silent_p.L1919L|SYNE1_ENST00000423061.1_Silent_p.L1926L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1919					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGCAGATTCTAATGCTTTAG	0.458000										HNSCC(10;0.0054)			13	76					0	0	0.013537	0	0
C3orf30	152405	broad.mit.edu	37	3	118865747	118865747	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:118865747T>A	ENST00000295622.1	+	1	751	c.711T>A	c.(709-711)agT>agA	p.S237R		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	237								p.S237R(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CTGACCAAAGTCCTTCTGTAC	0.458000													8	85					0	0	0.008291	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74670759	74670759	+	Splice_Site	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:74670759T>A	ENST00000541184.1	-	3	709		c.e3-2		ZDHHC15_ENST00000373367.3_Splice_Site|ZDHHC15_ENST00000373361.3_Splice_Site	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15							integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CAAGTGGAACTGGAAGCAGGA	0.368000													12	36					0	0	0.013537	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013098	149013098	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:149013098G>A	ENST00000535454.1	+	4	601	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	MAGEA8_ENST00000286482.1_Missense_Mutation_p.A18T|MAGEA8_ENST00000542674.1_Missense_Mutation_p.A18T|MAGEA8_ENST00000493910.1_3'UTR	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	18										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCCTTCAGGCCCAAGGAGA	0.577000													8	26					0	0	0.003080	0	0
TBX18	9096	broad.mit.edu	37	6	85447051	85447051	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:85447051G>A	ENST00000369663.5	-	8	1513	c.1176C>T	c.(1174-1176)ggC>ggT	p.G392G	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	392					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGCAAGAGGAGCCAGACAAAA	0.552000													10	57					0	0	0.010729	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603152	140603152	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140603152G>A	ENST00000239449.4	+	1	75	c.75G>A	c.(73-75)cgG>cgA	p.R25R	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		25					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATTGTCTCGGGCAGGTACTG	0.498000													11	42					0	0	0.008291	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521700	125521700	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:125521700G>T	ENST00000431078.1	+	16	2870	c.2506G>T	c.(2506-2508)Gac>Tac	p.D836Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	836	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGCATTAAAGACTTCATTCG	0.373000													16	68					1.02788e-11	1.61416e-11	0.033300	1	0
SLC10A2	6555	broad.mit.edu	37	13	103710636	103710636	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr13:103710636G>C	ENST00000245312.3	-	2	1070	c.474C>G	c.(472-474)atC>atG	p.I158M		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	158					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGGAATTACGATGCTCCCAG	0.502000													15	87					0	0	0.020292	0	0
CUL7	9820	broad.mit.edu	37	6	43020329	43020329	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:43020329C>A	ENST00000535468.1	-	2	440	c.354G>T	c.(352-354)ctG>ctT	p.L118L	CUL7_ENST00000265348.3_Silent_p.L66L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	66					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACATCCACAGCAGGATGTGCT	0.617000													11	107					0.000978159	0.00108381	0.010729	1	0
GFRAL	389400	broad.mit.edu	37	6	55198661	55198661	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:55198661C>G	ENST00000340465.2	+	3	321	c.235C>G	c.(235-237)Caa>Gaa	p.Q79E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	79						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGCAATTTCCAATTTAAAGA	0.348000													23	91					0	0	0.014323	0	0
NLRP4	147945	broad.mit.edu	37	19	56369531	56369531	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:56369531C>G	ENST00000301295.6	+	3	1194	c.772C>G	c.(772-774)Cag>Gag	p.Q258E	NLRP4_ENST00000587891.1_Missense_Mutation_p.Q183E|NLRP4_ENST00000346986.5_Missense_Mutation_p.Q258E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	258	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACGGCCGGTGCAGGTGCTTCT	0.577000													19	103					0	0	0.007413	0	0
ITPR2	3709	broad.mit.edu	37	12	26753039	26753039	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:26753039C>G	ENST00000381340.3	-	29	4098	c.3682G>C	c.(3682-3684)Gat>Cat	p.D1228H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1228					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATCTTTTCATCATTCTGTAAG	0.343000													3	19					0	0	0.004672	0	0
LRRC30	339291	broad.mit.edu	37	18	7231664	7231664	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:7231664G>T	ENST00000383467.2	+	1	542	c.528G>T	c.(526-528)gcG>gcT	p.A176A		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176								p.A176A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTCTTCGCGCACATCCCCA	0.552000													24	118					4.26978e-12	6.80596e-12	0.018920	1	0
MYO7B	4648	broad.mit.edu	37	2	128324281	128324281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:128324281G>T	ENST00000389524.4	+	5	402	c.349G>T	c.(349-351)Gag>Tag	p.E117*	MYO7B_ENST00000428314.1_Nonsense_Mutation_p.E117*|MYO7B_ENST00000409816.2_Nonsense_Mutation_p.E117*			Q6PIF6	MYO7B_HUMAN	myosin VIIB	117	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTACACCCTGGAGCAGGTACA	0.592000													6	20					0.00116845	0.00128126	0.021553	1	0
XIST	7503	broad.mit.edu	37	X	73065307	73065307	+	RNA	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:73065307T>A	ENST00000429829.1	-	0	7281					NR_001564.2																						TAAGGGTATATGGAGTGGACA	0.468000													20	147					0	0	0.010504	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503916	140503916	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140503916G>T	ENST00000194152.1	+	1	2336	c.2336G>T	c.(2335-2337)gGg>gTg	p.G779V		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		779					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGACACCGGGAGGGAAGTT	0.448000													18	94					5.03518e-11	7.75394e-11	0.007413	1	0
USP49	25862	broad.mit.edu	37	6	41773944	41773944	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:41773944T>A	ENST00000394253.3	-	3	1107	c.778A>T	c.(778-780)Aac>Tac	p.N260Y	USP49_ENST00000373009.3_Missense_Mutation_p.N260Y|USP49_ENST00000373006.1_Missense_Mutation_p.N260Y|USP49_ENST00000373010.1_Missense_Mutation_p.N260Y|USP49_ENST00000297229.2_Missense_Mutation_p.N260Y			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	260					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TAGCAGGTGTTGCCCAGGTTG	0.622000													7	78					0	0	0.029380	0	0
ANK2	287	broad.mit.edu	37	4	114158754	114158754	+	Splice_Site	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:114158754G>T	ENST00000357077.4	+	7	722		c.e7-1		ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000506722.1_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACTGCTTCAGATGATGGTGA	0.363000													12	56					0.00185496	0.00203056	0.016723	1	0
BCKDK	10295	broad.mit.edu	37	16	31121042	31121042	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:31121042C>A	ENST00000394951.1	+	5	936	c.313C>A	c.(313-315)Cgc>Agc	p.R105S	BCKDK_ENST00000219794.6_Missense_Mutation_p.R105S|BCKDK_ENST00000394950.3_Missense_Mutation_p.R105S|BCKDK_ENST00000287507.3_Missense_Mutation_p.R105S			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	105					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						GATTGCTCACCGCATCAAGGG	0.567000													8	70					2.17888e-05	2.55676e-05	0.006214	1	0
ELAVL2	1993	broad.mit.edu	37	9	23701398	23701398	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr9:23701398G>T	ENST00000397312.2	-	5	966	c.692C>A	c.(691-693)gCt>gAt	p.A231D	ELAVL2_ENST00000380117.1_Missense_Mutation_p.A231D|ELAVL2_ENST00000223951.6_Missense_Mutation_p.A231D|ELAVL2_ENST00000380110.4_Missense_Mutation_p.A260D|ELAVL2_ENST00000544538.1_Missense_Mutation_p.A231D	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	231					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGCCTGCTGAGCTAGCGGTCC	0.443000													49	203					9.57592e-29	1.83442e-28	0.014410	1	0
ASB11	140456	broad.mit.edu	37	X	15306042	15306042	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:15306042G>T	ENST00000537676.1	-	6	817	c.745C>A	c.(745-747)Cca>Aca	p.P249T	ASB11_ENST00000380470.3_Missense_Mutation_p.P253T|ASB11_ENST00000480796.1_Missense_Mutation_p.P270T|ASB11_ENST00000344384.4_Missense_Mutation_p.P249T			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	270			D -> N (in dbSNP:rs34025595).		intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CTGCTTTTTGGAGCCGCCAGA	0.537000													15	76					6.72482e-11	1.0232e-10	0.024245	1	0
ARID1B	57492	broad.mit.edu	37	6	157527447	157527447	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:157527447G>T	ENST00000346085.5	+	20	5173	c.5172G>T	c.(5170-5172)ttG>ttT	p.L1724F	ARID1B_ENST00000350026.5_Missense_Mutation_p.L1711F|ARID1B_ENST00000367148.1_Missense_Mutation_p.L1764F|ARID1B_ENST00000275248.4_Missense_Mutation_p.L1706F	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1711					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)		GCCAGTCCTTGGCAGACGATT	0.478000													43	272					3.21987e-24	6.04082e-24	0.014410	1	0
MPO	4353	broad.mit.edu	37	17	56349109	56349109	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:56349109C>A	ENST00000340482.3	-	10	2209	c.2033G>T	c.(2032-2034)gGc>gTc	p.G678V	MPO_ENST00000225275.3_Missense_Mutation_p.G646V			P05164	PERM_HUMAN	myeloperoxidase	646					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CTCGGACACGCCGCCCATCCA	0.612000													15	53					1.99824e-07	2.65874e-07	0.033300	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216098	20216098	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:20216098G>T	ENST00000331723.1	+	1	512	c.512G>T	c.(511-513)gGg>gTg	p.G171V		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTTCTGTGGGCCCAATGAA	0.512000													8	104					0.00621372	0.00660857	0.006214	1	0
WWC3	55841	broad.mit.edu	37	X	10035347	10035347	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:10035347C>T	ENST00000380861.4	+	3	428	c.37C>T	c.(37-39)Cca>Tca	p.P13S	WWC3_ENST00000454666.1_Missense_Mutation_p.P13S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	13										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GATTGAGGATCCAAGAGAACA	0.388000													4	20					0	0	0.009096	0	0
CABLES1	91768	broad.mit.edu	37	18	20832975	20832975	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:20832975G>A	ENST00000256925.7	+	8	1498	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	CABLES1_ENST00000400473.2_Missense_Mutation_p.E173K|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Missense_Mutation_p.E235K	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	500					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGACATGAACGAGACCTTCAA	0.488000													9	57					0	0	0.010729	0	0
L2HGDH	79944	broad.mit.edu	37	14	50734574	50734574	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:50734574C>A	ENST00000267436.4	-	8	1358	c.961G>T	c.(961-963)Ggc>Tgc	p.G321C	L2HGDH_ENST00000421284.3_Missense_Mutation_p.G321C|L2HGDH_ENST00000261699.4_Missense_Mutation_p.G321C			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	321					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CAAATACTGCCATCCATCCTT	0.413000													24	68					7.16444e-05	8.25468e-05	0.021523	1	0
MUC2	4583	broad.mit.edu	37	11	1104128	1104128	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:1104128C>T	ENST00000441003.2	+	49	8346	c.8319C>T	c.(8317-8319)agC>agT	p.S2773S		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5135						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGTCCTGAGCTGCCCCAATG	0.682000													4	24					0	0	0.009096	0	0
YWHAG	7532	broad.mit.edu	37	7	75959153	75959153	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:75959153T>A	ENST00000307630.3	-	2	707	c.485A>T	c.(484-486)aAa>aTa	p.K162I		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	162					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CATGTGCTCTTTGCTGATCTC	0.587000													42	186					0	0	0.011902	0	0
LRRC15	131578	broad.mit.edu	37	3	194081447	194081447	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:194081447G>T	ENST00000347624.3	-	2	411	c.326C>A	c.(325-327)gCc>gAc	p.A109D	LRRC15_ENST00000439944.2_Missense_Mutation_p.A115D|LRRC15_ENST00000428839.1_Missense_Mutation_p.A115D	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	109						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	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;4.94e-05)		CTTGTTGTTGGCGAGGCTGAG	0.602000													7	71					2.0095e-06	2.51583e-06	0.029380	1	0
PCDH17	27253	broad.mit.edu	37	13	58207657	58207657	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr13:58207657T>A	ENST00000377918.3	+	1	1003	c.977T>A	c.(976-978)cTg>cAg	p.L326Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	326	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCCGAGACCTGGGGCCTAAC	0.597000													11	71					0	0	0.008291	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558946	113558946	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:113558946C>A	ENST00000284601.3	-	1	174	c.106G>T	c.(106-108)Ggt>Tgt	p.G36C		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	36					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GGGGAGAAACCAGGTTGGAAA	0.388000													13	86					3.27435e-08	4.50755e-08	0.020292	1	0
MAGEE2	139599	broad.mit.edu	37	X	75004218	75004218	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:75004218C>T	ENST00000373359.2	-	1	861	c.669G>A	c.(667-669)agG>agA	p.R223R		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	223	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGGAGGTTCCTTGTGTTCC	0.493000													24	51					0	0	0.018920	0	0
NCOA2	10499	broad.mit.edu	37	8	71068967	71068967	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:71068967C>A	ENST00000452400.2	-	11	1814	c.1633G>T	c.(1633-1635)Ggg>Tgg	p.G545W	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	545					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	p.G545R(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AATGAGACCCCGTGCCCCTCG	0.512000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								16	93					2.23348e-06	2.78529e-06	0.028581	1	0
KYNU	8942	broad.mit.edu	37	2	143715264	143715264	+	Silent	SNP	C	C	A	rs147103103		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:143715264C>A	ENST00000264170.4	+	7	820	c.562C>A	c.(562-564)Cgg>Agg	p.R188R	KYNU_ENST00000409512.1_Silent_p.R188R|KYNU_ENST00000375773.2_Silent_p.R188R	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	188			R -> Q (in dbSNP:rs2304705).		anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGAAAGTATGCGGATGATAAA	0.308000													10	24					2.80697e-09	4.04815e-09	0.010729	1	0
GRIN2B	2904	broad.mit.edu	37	12	13769510	13769510	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:13769510C>T	ENST00000279593.3	-	5	1416	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	403					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.D403N(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGATGGTCATCCTCCTGCTCT	0.527000													15	80					0	0	0.024245	0	0
DNAJC13	23317	broad.mit.edu	37	3	132226082	132226082	+	Splice_Site	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:132226082G>T	ENST00000260818.6	+	43	5248	c.4998_splice	c.e43-1	p.G1667_splice		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1667							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTTAAAAAGGGTGATTGTGAC	0.308000													9	59					0.00448238	0.00484006	0.004482	1	0
C1orf65	164127	broad.mit.edu	37	1	223567834	223567834	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:223567834G>T	ENST00000366875.3	+	1	1120	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	339										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGAAGAACGTGCCCCCGGGGG	0.687000													6	12					0.00116845	0.00128126	0.021553	1	0
NLRP12	91662	broad.mit.edu	37	19	54310871	54310871	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:54310871C>A	ENST00000324134.6	-	4	2289	c.2121G>T	c.(2119-2121)gcG>gcT	p.A707A	NLRP12_ENST00000354278.3_Silent_p.A707A|NLRP12_ENST00000391772.1_Silent_p.A708A|NLRP12_ENST00000535162.1_Silent_p.A707A|NLRP12_ENST00000391773.1_Silent_p.A708A|NLRP12_ENST00000345770.5_Silent_p.A708A|NLRP12_ENST00000391775.3_Silent_p.A707A|NLRP12_ENST00000351894.4_Silent_p.A707A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	707					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGCACAGGGCCGCTGCCAGAT	0.567000													9	45					7.48243e-07	9.65279e-07	0.006214	1	0
PCDHA2	56146	broad.mit.edu	37	5	140176297	140176297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140176297G>A	ENST00000526136.1	+	1	1748	c.1748G>A	c.(1747-1749)tGg>tAg	p.W583*	PCDHA2_ENST00000520672.2_Nonsense_Mutation_p.W583*|PCDHA2_ENST00000378132.1_Nonsense_Mutation_p.W583*|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCCGTGGTCGGTGGGT	0.662000													15	120					0	0	0.020292	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													5	62					0	0	0.003080	0	0
GPR113	165082	broad.mit.edu	37	2	26569027	26569027	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:26569027C>T	ENST00000333478.6	-	1	658	c.76G>A	c.(76-78)Ggc>Agc	p.G26S	EPT1_ENST00000260585.7_5'UTR|GPR113_ENST00000541401.1_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	83					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGCCCAGCCGGTGTGGTGC	0.677000													3	18					0	0	0.004672	0	0
RYR3	6263	broad.mit.edu	37	15	34077909	34077909	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:34077909C>A	ENST00000389232.4	+	66	9385	c.9315C>A	c.(9313-9315)ccC>ccA	p.P3105P	RYR3_ENST00000415757.3_Silent_p.P3105P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3105					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGACATCCCCCAGCTGGAAG	0.527000													4	62					0.00909568	0.00957757	0.009096	1	0
OR13G1	441933	broad.mit.edu	37	1	247836182	247836182	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:247836182C>A	ENST00000359688.2	-	1	183	c.162G>T	c.(160-162)acG>acT	p.T54T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATACATGGGCGTATGCAAGG	0.418000													17	35					3.52763e-06	4.35645e-06	0.033300	1	0
AHNAK2	113146	broad.mit.edu	37	14	105413664	105413664	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:105413664C>G	ENST00000333244.5	-	7	8243	c.8124G>C	c.(8122-8124)caG>caC	p.Q2708H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2708						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGGCCAGCCTGGACCTCCA	0.612000													39	244					0	0	0.023175	0	0
ZNF91	7644	broad.mit.edu	37	19	23544912	23544912	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:23544912C>A	ENST00000300619.7	-	4	1074	c.869G>T	c.(868-870)gGa>gTa	p.G290V	ZNF91_ENST00000397082.2_Missense_Mutation_p.G258V|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	290						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGGTTTCTCTCCAGTGTGTAT	0.378000													8	71					0.000673444	0.000748794	0.008291	1	0
GPM6A	2823	broad.mit.edu	37	4	176561298	176561298	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:176561298C>T	ENST00000280187.7	-	7	711	c.666G>A	c.(664-666)ggG>ggA	p.G222G	GPM6A_ENST00000506894.1_Silent_p.G211G|GPM6A_ENST00000515090.1_Silent_p.G215G|GPM6A_ENST00000393658.2_Silent_p.G222G|GPM6A_ENST00000506219.1_5'UTR	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	222						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TGACTGCTGCCCCAGCTCCAG	0.428000													12	59					0	0	0.010729	0	0
C3orf30	152405	broad.mit.edu	37	3	118865771	118865771	+	Silent	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:118865771A>G	ENST00000295622.1	+	1	775	c.735A>G	c.(733-735)ggA>ggG	p.G245G		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	245										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TTGACAGTGGATCGTCCGTAC	0.463000													6	81					0	0	0.003080	0	0
FLRT3	23767	broad.mit.edu	37	20	14307338	14307338	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr20:14307338T>C	ENST00000378053.3	-	2	1071	c.815A>G	c.(814-816)cAg>cGg	p.Q272R	FLRT3_ENST00000341420.4_Missense_Mutation_p.Q272R|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	272					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCGATAGAGCTGCCTTAGATA	0.403000													16	52					0	0	0.028581	0	0
ERI3	79033	broad.mit.edu	37	1	44750540	44750540	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:44750540C>T	ENST00000372257.2	-	7	979	c.798G>A	c.(796-798)gcG>gcA	p.A266A	ERI3_ENST00000372259.5_Silent_p.A151A|ERI3_ENST00000537474.1_Silent_p.A89A|ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	266	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGAAGTAATCCGCCACTGGCA	0.522000													10	52					0	0	0.006214	0	0
KIAA0922	23240	broad.mit.edu	37	4	154525149	154525149	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:154525149C>T	ENST00000409959.3	+	25	3034	c.2985C>T	c.(2983-2985)gcC>gcT	p.A995A	KIAA0922_ENST00000409663.3_Silent_p.A994A|KIAA0922_ENST00000440693.1_Silent_p.A911A	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	994						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CAGCTGCGGCCAGCAGCACCA	0.512000													8	70					0	0	0.004482	0	0
PITX2	5308	broad.mit.edu	37	4	111539669	111539669	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:111539669A>T	ENST00000354925.2	-	7	2271	c.566T>A	c.(565-567)cTa>cAa	p.L189Q	PITX2_ENST00000394595.3_Silent_p.P120P|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000306732.3_Missense_Mutation_p.L196Q|PITX2_ENST00000355080.5_Missense_Mutation_p.L143Q|PITX2_ENST00000394598.2_Missense_Mutation_p.L189Q	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	189					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTTGGTGGATAGGGAGGCGGA	0.547000													13	50					0	0	0.013537	0	0
RLTPR	146206	broad.mit.edu	37	16	67679982	67679982	+	Splice_Site	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:67679982A>T	ENST00000334583.6	+	4	576	c.249_splice	c.e4+1	p.Q83_splice	RLTPR_ENST00000545661.1_Splice_Site_p.Q83_splice	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	83										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACACCCCCTCAGGTGAGACAC	0.622000													23	104					0	0	0.014323	0	0
GJA5	2702	broad.mit.edu	37	1	147231030	147231030	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:147231030C>T	ENST00000271348.2	-	2	478	c.317G>A	c.(316-318)cGc>cAc	p.R106H	GJA5_ENST00000369237.1_Missense_Mutation_p.R106H	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	106					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCGTAGCTTGCGCTTCTCCTG	0.617000													25	155					0	0	0.016522	0	0
YY2	404281	broad.mit.edu	37	X	21875099	21875099	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:21875099C>A	ENST00000429584.2	+	1	995	c.497C>A	c.(496-498)aCg>aAg	p.T166K	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						AGCCTGGGCACGAGGAAGTGG	0.582000													32	119					2.08457e-15	3.62236e-15	0.010818	1	0
ROR2	4920	broad.mit.edu	37	9	94486708	94486708	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr9:94486708G>T	ENST00000375708.3	-	9	2266	c.2068C>A	c.(2068-2070)Ctg>Atg	p.L690M	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.L550M	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	690	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TAGGGCTGCAGGCCGTAGCTG	0.617000													20	46					5.03518e-11	7.75394e-11	0.007413	1	0
STAG2	10735	broad.mit.edu	37	X	123191729	123191729	+	Missense_Mutation	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:123191729A>G	ENST00000371160.1	+	15	1608	c.1318A>G	c.(1318-1320)Aga>Gga	p.R440G	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.R440G|STAG2_ENST00000371144.3_Missense_Mutation_p.R440G|STAG2_ENST00000354548.5_Missense_Mutation_p.R371G|STAG2_ENST00000371157.3_Missense_Mutation_p.R440G|STAG2_ENST00000218089.9_Missense_Mutation_p.R440G			Q8N3U4	STAG2_HUMAN	stromal antigen 2	440					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						CTTCAGTCGTAGAGATCCAGA	0.313000													4	36					0	0	0.014758	0	0
FOLH1B	219595	broad.mit.edu	37	11	89413826	89413826	+	RNA	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:89413826A>T	ENST00000532352.1	+	0	1311							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACAGCTTGGTATACAACCTAA	0.289000													7	27					0	0	0.006214	0	0
PARP3	10039	broad.mit.edu	37	3	51978525	51978525	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:51978525G>A	ENST00000417220.2	+	5	920	c.432G>A	c.(430-432)gtG>gtA	p.V144V	PARP3_ENST00000431474.1_Silent_p.V144V|PARP3_ENST00000398755.3_Silent_p.V151V			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	144					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCACTTTGTGTCTCACCCGG	0.517000													20	149					0	0	0.010504	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15116382	15116382	+	Missense_Mutation	SNP	C	C	A	rs139040870		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:15116382C>A	ENST00000253699.3	-	14	1875	c.1262G>T	c.(1261-1263)cGa>cTa	p.R421L	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R421L	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	421	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTTGGCCGCTCGAGAAGCCAG	0.632000													9	63					1.58986e-06	2.01827e-06	0.008291	1	0
IFI16	3428	broad.mit.edu	37	1	159023368	159023368	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:159023368A>T	ENST00000295809.7	+	11	2386	c.2131A>T	c.(2131-2133)Aca>Tca	p.T711S	IFI16_ENST00000448393.2_Missense_Mutation_p.T599S|IFI16_ENST00000368132.3_Missense_Mutation_p.T655S|IFI16_ENST00000368131.4_Missense_Mutation_p.T655S|IFI16_ENST00000340979.6_Missense_Mutation_p.T599S|IFI16_ENST00000430894.2_Missense_Mutation_p.T659S|IFI16_ENST00000359709.3_Missense_Mutation_p.T655S			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	711	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ACAAGATAATACAGGGAAGAT	0.368000													11	65					0	0	0.016723	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574378	140574378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140574378C>A	ENST00000239446.4	+	1	2437	c.2253C>A	c.(2251-2253)taC>taA	p.Y751*		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		751					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGCTACCAGTATGAGG	0.622000													24	183					9.95505e-16	1.73463e-15	0.014323	1	0
RHAG	6005	broad.mit.edu	37	6	49580220	49580220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:49580220C>A	ENST00000371175.4	-	6	861	c.835G>T	c.(835-837)Gga>Tga	p.G279*	RHAG_ENST00000229810.7_Nonsense_Mutation_p.G279*	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	279			G -> E (in RHN; dbSNP:rs28933991).		carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GCAACTCCTCCAGCAAGGGTG	0.468000													10	37					1.08611e-07	1.46039e-07	0.010729	1	0
OR10R2	343406	broad.mit.edu	37	1	158449763	158449763	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:158449763C>A	ENST00000368152.1	+	1	96	c.96C>A	c.(94-96)ttC>ttA	p.F32L	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TCACCGAATTCCTGTTGCTGG	0.413000													37	145					4.62619e-21	8.60309e-21	0.019004	1	0
SORD	6652	broad.mit.edu	37	15	45365705	45365705	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:45365705G>T	ENST00000267814.9	+	9	1231	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	RP11-109D20.2_ENST00000560967.1_RNA|SORD_ENST00000559562.1_3'UTR|SORD_ENST00000558580.1_Missense_Mutation_p.D330Y	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	351					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	GCTCAAGTGTGACCCCAGTGA	0.507000													13	65					9.22233e-05	0.000105493	0.024334	1	0
TRIM48	79097	broad.mit.edu	37	11	55032685	55032685	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:55032685G>A	ENST00000417545.2	+	2	440	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	102						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAAAGAAGATGTTCTGTGAAG	0.532000													9	87					0	0	0.004482	0	0
ZMYM2	7750	broad.mit.edu	37	13	20656961	20656961	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr13:20656961G>T	ENST00000382869.3	+	23	3860	c.3609G>T	c.(3607-3609)agG>agT	p.R1203S	ZMYM2_ENST00000382874.2_Missense_Mutation_p.R1203S|ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.R1203S|ZMYM2_ENST00000382870.2_Missense_Mutation_p.R583S	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ATCTCTGGAGGATAAAACAAC	0.318000													7	27					0.00198382	0.00215677	0.029380	1	0
KIT	3815	broad.mit.edu	37	4	55602663	55602663	+	Splice_Site	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:55602663G>A	ENST00000288135.5	+	18	2581		c.e18-1			NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog						male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCTATTACAGGCTCGACTAC	0.403000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				18	86					0	0	0.007413	0	0
FBN2	2201	broad.mit.edu	37	5	127595228	127595228	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:127595228C>A	ENST00000508053.1	-	71	9632	c.8658G>T	c.(8656-8658)ctG>ctT	p.L2886L	FBN2_ENST00000262464.4_Silent_p.L2886L			P35556	FBN2_HUMAN	fibrillin 2	2886					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTCTCTTCCAGTTTCTTAA	0.507000													25	131					1.10923e-09	1.61805e-09	0.016522	1	0
MOGS	7841	broad.mit.edu	37	2	74689757	74689757	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:74689757C>T	ENST00000233616.4	-	4	1321	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	MOGS_ENST00000452063.2_Missense_Mutation_p.E281K|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	387					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AAAACCTGCTCGCCAGAGCTC	0.587000													27	177					0	0	0.027356	0	0
ACTBL2	345651	broad.mit.edu	37	5	56777820	56777820	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:56777820G>T	ENST00000423391.1	-	1	816	c.715C>A	c.(715-717)Cgg>Agg	p.R239R	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	239						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TCATAGCTCCGTTCCGGTGAG	0.547000													13	60					1.61879e-10	2.43393e-10	0.013537	1	0
HDAC11	79885	broad.mit.edu	37	3	13546070	13546070	+	Missense_Mutation	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:13546070A>G	ENST00000295757.3	+	10	1114	c.931A>G	c.(931-933)Atc>Gtc	p.I311V	HDAC11_ENST00000522202.1_Missense_Mutation_p.I260V|HDAC11_ENST00000404040.1_Missense_Mutation_p.I211V|HDAC11_ENST00000437379.2_Missense_Mutation_p.I283V|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000402271.1_Missense_Mutation_p.I232V|HDAC11_ENST00000404548.1_3'UTR|HDAC11_ENST00000446613.2_Missense_Mutation_p.I119V|HDAC11_ENST00000402259.1_Missense_Mutation_p.I145V	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	311	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CACAGCCCGCATCATTGCTGA	0.612000													7	65					0	0	0.029380	0	0
TTN	7273	broad.mit.edu	37	2	179455328	179455328	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:179455328G>C	ENST00000589042.1	-	304	61348	c.61124C>G	c.(61123-61125)cCt>cGt	p.P20375R	TTN_ENST00000342992.6_Missense_Mutation_p.P17807R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P11310R|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P11502R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P11435R|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18734R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18734	Fibronectin type-III 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGATTAATAGGTGGTCCAGG	0.448000													19	113					0	0	0.012319	0	0
MYCT1	80177	broad.mit.edu	37	6	153043182	153043182	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:153043182C>A	ENST00000367245.5	+	2	510	c.502C>A	c.(502-504)Cat>Aat	p.H168N	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	168						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTCTACTTTCCATCCCTTTCT	0.493000													15	82					2.61681e-11	4.06918e-11	0.020292	1	0
IGHV1-69	28461	broad.mit.edu	37	14	107170008	107170008	+	RNA	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:107170008C>A	ENST00000390633.2	-	0	334																											GTGGATTTGTCCGCGGTAATC	0.547000													50	239					9.52127e-25	1.79158e-24	0.014410	1	0
OR11L1	391189	broad.mit.edu	37	1	248004298	248004298	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:248004298C>A	ENST00000355784.2	-	1	956	c.901G>T	c.(901-903)Gtt>Ttt	p.V301F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCTTTCTAACAGCTTCTTTG	0.393000													28	69					2.48779e-11	3.88756e-11	0.027356	1	0
FAT2	2196	broad.mit.edu	37	5	150946786	150946786	+	Silent	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:150946786A>G	ENST00000261800.5	-	1	1719	c.1707T>C	c.(1705-1707)tgT>tgC	p.C569C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	569	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGACCCTGTACAGTTGACTT	0.458000													10	93					0	0	0.006214	0	0
IRS4	8471	broad.mit.edu	37	X	107975899	107975899	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:107975899G>T	ENST00000372129.2	-	1	3752	c.3676C>A	c.(3676-3678)Ccg>Acg	p.P1226T	RP6-24A23.6_ENST00000563887.1_Missense_Mutation_p.P7T	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1226						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTCTCTCCGGGGGTCTTGGC	0.572000													68	256					1.62914e-18	2.9774e-18	0.014410	1	0
PTCD1	26024	broad.mit.edu	37	7	99030992	99030992	+	Missense_Mutation	SNP	C	C	A	rs10258918	byFrequency	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:99030992C>A	ENST00000292478.4	-	3	753	c.503G>T	c.(502-504)cGa>cTa	p.R168L	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R217L|PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.R217L	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCTGCAATCGCTCCTCCTT	0.597000													28	143					2.12542e-12	3.43087e-12	0.030593	1	0
FSHR	2492	broad.mit.edu	37	2	49210102	49210102	+	Missense_Mutation	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:49210102A>G	ENST00000406846.2	-	8	736	c.617T>C	c.(616-618)tTa>tCa	p.L206S	FSHR_ENST00000346173.3_Missense_Mutation_p.L206S|FSHR_ENST00000304421.4_Missense_Mutation_p.L180S|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	206					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAATTCTTCTAAATTATTATT	0.408000									Gonadal Dysgenesis, 46 XX				10	27					0	0	0.006214	0	0
OR6B1	135946	broad.mit.edu	37	7	143701858	143701858	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:143701858T>C	ENST00000408922.2	+	1	837	c.769T>C	c.(769-771)Tat>Cat	p.Y257H		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TATTTTCATGTATGCTCGACC	0.423000													13	123					0	0	0.013537	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474443	140474443	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140474443G>T	ENST00000194155.4	+	1	217	c.69G>T	c.(67-69)ctG>ctT	p.L23L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		23					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTTTTGCTGGGCATAGCTC	0.537000													9	72					1.76689e-08	2.46435e-08	0.006214	1	0
FRMD1	79981	broad.mit.edu	37	6	168479740	168479740	+	Missense_Mutation	SNP	G	G	T	rs147876520		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:168479740G>T	ENST00000283309.6	-	1	99	c.35C>A	c.(34-36)cCc>cAc	p.P12H		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	12						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGTCCGGGCGGGGTCTATGCC	0.662000													13	49					2.27111e-07	3.00297e-07	0.013537	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69111268	69111268	+	Splice_Site	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:69111268C>T	ENST00000332644.5	-	1	170		c.e1+1			NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GTCCCCTTTACCTGTACATAA	0.358000													19	68					0	0	0.010504	0	0
CHRM3	1131	broad.mit.edu	37	1	240071786	240071786	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:240071786C>T	ENST00000255380.4	+	5	1814	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	345					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTGCTGCCTCCCTGGAGAACT	0.567000													11	26					0	0	0.008291	0	0
OPN4	94233	broad.mit.edu	37	10	88415988	88415988	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:88415988G>T	ENST00000372071.2	+	2	448	c.221G>T	c.(220-222)gGc>gTc	p.G74V	OPN4_ENST00000241891.5_Missense_Mutation_p.G74V	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	74					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TATACCCTGGGCACAGTGATC	0.622000													11	94					0.000673444	0.000748794	0.008291	1	0
DUSP12	11266	broad.mit.edu	37	1	161722885	161722885	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:161722885C>G	ENST00000367943.4	+	5	727	c.695C>G	c.(694-696)tCt>tGt	p.S232C	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	232					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TTTCGAAGTTCTAGTATTCTG	0.423000													43	110					0	0	0.036044	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58846460	58846460	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:58846460C>T	ENST00000329665.4	+	2	439	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	98	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		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;0.0289)		GGAGCAGTTCCTGGGTGCGCT	0.662000													7	49					0	0	0.029380	0	0
GAA	2548	broad.mit.edu	37	17	78082517	78082517	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:78082517G>T	ENST00000302262.3	+	8	1435	c.1216G>T	c.(1216-1218)Gac>Tac	p.D406Y	GAA_ENST00000390015.3_Missense_Mutation_p.D406Y	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	406					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GAACGACCTGGACTACATGGA	0.667000													9	27					3.09899e-07	4.08065e-07	0.004482	1	0
MYRIP	25924	broad.mit.edu	37	3	39942332	39942332	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:39942332G>A	ENST00000302541.6	+	2	367	c.25G>A	c.(25-27)Ggt>Agt	p.G9S	MYRIP_ENST00000425621.1_Missense_Mutation_p.G9S|MYRIP_ENST00000444716.1_Missense_Mutation_p.G9S|MYRIP_ENST00000396217.3_5'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	9	RabBD.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGACCTGTCTGGTTTGACTGA	0.418000													19	91					0	0	0.016522	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177650	89177650	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:89177650C>G	ENST00000561129.2	+	1	696	c.566C>G	c.(565-567)cCg>cGg	p.P189R	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P189R			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	189						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATAGCCCAGCCGAAGAAAAAG	0.572000													12	75					0	0	0.010729	0	0
KIF3A	11127	broad.mit.edu	37	5	132061893	132061893	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:132061893C>A	ENST00000378746.4	-	4	655	c.437G>T	c.(436-438)cGa>cTa	p.R146L	KIF3A_ENST00000403231.1_Missense_Mutation_p.R146L|KIF3A_ENST00000378735.1_Missense_Mutation_p.R146L	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	146	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAGACACTCGAACCAAAAA	0.299000													6	48					0.0215528	0.0224714	0.021553	1	0
SPATS1	221409	broad.mit.edu	37	6	44310868	44310868	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:44310868G>A	ENST00000288390.2	+	1	383	c.36G>A	c.(34-36)cgG>cgA	p.R12R	SPATS1_ENST00000323108.8_Silent_p.R12R			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	12										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGTCCACGGGGCTGCCGTC	0.517000													9	44					0	0	0.006214	0	0
MARCH6	10299	broad.mit.edu	37	5	10407232	10407232	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:10407232G>T	ENST00000274140.5	+	17	1603	c.1471G>T	c.(1471-1473)Gtc>Ttc	p.V491F	MARCH6_ENST00000449913.2_Missense_Mutation_p.V443F|MARCH6_ENST00000510792.1_Missense_Mutation_p.V189F|MARCH6_ENST00000503788.1_Missense_Mutation_p.V386F	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	491					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGGCTCCATTGTCCTCCTGAT	0.408000													40	125					1.59932e-28	3.05456e-28	0.030466	1	0
OOSP2	219990	broad.mit.edu	37	11	59814444	59814444	+	Silent	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:59814444T>A	ENST00000278855.2	+	4	560	c.375T>A	c.(373-375)tcT>tcA	p.S125S		NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		125						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						CACCAGTTTCTACTGAGAATG	0.373000													22	93					0	0	0.018920	0	0
LPHN3	23284	broad.mit.edu	37	4	62598746	62598746	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:62598746G>C	ENST00000512091.1	+	7	1416	c.669G>C	c.(667-669)gaG>gaC	p.E223D	LPHN3_ENST00000506746.1_Missense_Mutation_p.E291D|LPHN3_ENST00000509896.1_Missense_Mutation_p.E291D|LPHN3_ENST00000504896.1_Missense_Mutation_p.E223D|LPHN3_ENST00000511324.1_Missense_Mutation_p.E291D|LPHN3_ENST00000514591.1_Missense_Mutation_p.E223D|LPHN3_ENST00000506720.1_Missense_Mutation_p.E291D|LPHN3_ENST00000508693.1_Missense_Mutation_p.E291D|LPHN3_ENST00000545650.1_Missense_Mutation_p.E223D|LPHN3_ENST00000514996.1_Missense_Mutation_p.E223D|LPHN3_ENST00000507625.1_Missense_Mutation_p.E291D|LPHN3_ENST00000506700.1_Missense_Mutation_p.E223D|LPHN3_ENST00000514157.1_Missense_Mutation_p.E223D|LPHN3_ENST00000508946.1_Missense_Mutation_p.E223D|LPHN3_ENST00000507164.1_Missense_Mutation_p.E291D			Q9HAR2	LPHN3_HUMAN	latrophilin 3	223	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCAACAAAGAGCGCACCAGGA	0.448000													8	42					0	0	0.004482	0	0
WASH6P	653440	broad.mit.edu	37	X	155254735	155254735	+	RNA	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:155254735C>G	ENST00000285718.7	+	0	1180				WASH6P_ENST00000461007.1_RNA														p.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587000													3	8					0	0	0.004672	0	0
RYR2	6262	broad.mit.edu	37	1	237993846	237993846	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:237993846G>T	ENST00000366574.2	+	103	14989	c.14672G>T	c.(14671-14673)tGt>tTt	p.C4891F	RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.C4897F|RYR2_ENST00000542537.1_Missense_Mutation_p.C4875F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4891					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)			TGCTTCATCTGTGGGATAGGC	0.428000													20	139					7.21436e-19	1.32229e-18	0.008871	1	0
MRPL22	29093	broad.mit.edu	37	5	154320679	154320679	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:154320679G>T	ENST00000523037.1	+	1	50	c.9G>T	c.(7-9)gcG>gcT	p.A3A	MRPL22_ENST00000439747.3_Silent_p.A3A|MRPL22_ENST00000522038.1_Silent_p.A3A|MRPL22_ENST00000265229.8_5'UTR	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	3					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGATGGCGGCGGCAGTACTGG	0.562000													22	115					3.5997e-14	6.0727e-14	0.014323	1	0
CD40LG	959	broad.mit.edu	37	X	135741549	135741549	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:135741549C>A	ENST00000370629.2	+	5	817	c.761C>A	c.(760-762)aCg>aAg	p.T254K	CD40LG_ENST00000370628.2_Missense_Mutation_p.T233K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	254			T -> M (in HIGM1).		anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	ACTGGCTTCACGTCCTTTGGC	0.507000									Immune Deficiency with Hyper-IgM				19	107					8.28177e-16	1.45102e-15	0.007413	1	0
NPBWR1	2831	broad.mit.edu	37	8	53853025	53853025	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:53853025C>A	ENST00000331251.3	+	1	2035	c.558C>A	c.(556-558)cgC>cgA	p.R186R		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	186					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				AGGGCCGGCGCCAGTGCGTGC	0.706000													4	14					0.00909568	0.00957757	0.009096	1	0
ISLR2	57611	broad.mit.edu	37	15	74425301	74425301	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:74425301G>T	ENST00000361742.3	+	4	975	c.206G>T	c.(205-207)gGg>gTg	p.G69V	ISLR2_ENST00000565540.1_Missense_Mutation_p.G69V|ISLR2_ENST00000565159.1_Missense_Mutation_p.G69V|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.G69V|ISLR2_ENST00000445793.1_Missense_Mutation_p.G69V|ISLR2_ENST00000435464.1_Missense_Mutation_p.G69V|ISLR2_ENST00000419208.1_Missense_Mutation_p.G69V	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	69					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTGCGGCGCGGGGCCTTCGCC	0.637000													18	61					1.67942e-08	2.36307e-08	0.006122	1	0
CSTF3	1479	broad.mit.edu	37	11	33108609	33108609	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:33108609C>T	ENST00000323959.4	-	18	1859	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	574	Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CTATCCACTTCATCTTTCAGA	0.438000													39	230					0	0	0.019004	0	0
TRIM56	81844	broad.mit.edu	37	7	100732499	100732499	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:100732499G>T	ENST00000306085.6	+	3	2203	c.1906G>T	c.(1906-1908)Gcg>Tcg	p.A636S		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	636					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGCCTGCGGGCGCTGGTGTT	0.647000													26	118					5.45024e-15	9.31815e-15	0.018920	1	0
NPY1R	4886	broad.mit.edu	37	4	164247633	164247633	+	Missense_Mutation	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:164247633A>G	ENST00000296533.2	-	2	605	c.74T>C	c.(73-75)cTt>cCt	p.L25P	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	25					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAAAGCCAGAAGCTGGGCATT	0.378000													7	49					0	0	0.029380	0	0
REPS2	9185	broad.mit.edu	37	X	17047678	17047678	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:17047678C>A	ENST00000357277.3	+	5	874	c.703C>A	c.(703-705)Cag>Aag	p.Q235K	REPS2_ENST00000303843.7_Missense_Mutation_p.Q234K|REPS2_ENST00000380064.4_Missense_Mutation_p.Q95K	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	235					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GCCCCTTGTCCAGCCCGAGGG	0.498000													13	82					7.93312e-07	1.01723e-06	0.020292	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647407	33647407	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:33647407C>T	ENST00000558425.1	-	2	192	c.193G>A	c.(193-195)Gag>Aag	p.E65K																								GAAATCCACTCCAGTCCCTTC	0.537000													62	372					0	0	0.014410	0	0
CXCR2	3579	broad.mit.edu	37	2	218999542	218999542	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:218999542G>A	ENST00000318507.2	+	3	445	c.18G>A	c.(16-18)atG>atA	p.M6I		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	6					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ATTTTAACATGGAGAGTGACA	0.403000													11	91					0	0	0.008291	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452915	102452915	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:102452915G>T	ENST00000360184.4	+	8	2517	c.2353G>T	c.(2353-2355)Gtt>Ttt	p.V785F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	785	Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GATCGAGAGCGTTCGTACCTA	0.532000													19	107					1.33834e-09	1.94779e-09	0.007413	1	0
SHKBP1	92799	broad.mit.edu	37	19	41086559	41086559	+	Missense_Mutation	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:41086559A>G	ENST00000291842.5	+	8	699	c.650A>G	c.(649-651)tAc>tGc	p.Y217C	SHKBP1_ENST00000600733.1_Missense_Mutation_p.Y217C	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	217						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTAGTCTGCTACAGGTGCTTG	0.587000													8	62					0	0	0.003080	0	0
SPRED2	200734	broad.mit.edu	37	2	65540999	65540999	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:65540999C>T	ENST00000356388.4	-	6	1082	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	SPRED2_ENST00000443619.2_Missense_Mutation_p.R295Q	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	298					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CTTCCGCCGCCGCGACTTGCC	0.682000													30	127					0	0	0.015359	0	0
OR8H2	390151	broad.mit.edu	37	11	55872682	55872682	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:55872682A>T	ENST00000313503.1	+	1	164	c.164A>T	c.(163-165)cAg>cTg	p.Q55L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTGGACCTCCAGCTTCACACT	0.423000										HNSCC(53;0.14)			62	277					0	0	0.014410	0	0
FAM227B	196951	broad.mit.edu	37	15	49800432	49800432	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:49800432C>G	ENST00000299338.6	-	11	1291	c.988G>C	c.(988-990)Gac>Cac	p.D330H	FAM227B_ENST00000561064.1_Missense_Mutation_p.D296H	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TCTTGACTGTCTGCAATTCTT	0.338000													5	45					0	0	0.014758	0	0
MAP4K3	8491	broad.mit.edu	37	2	39494378	39494378	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:39494378C>A	ENST00000263881.3	-	27	2308	c.1984G>T	c.(1984-1986)Gta>Tta	p.V662L	MAP4K3_ENST00000437545.1_Missense_Mutation_p.V578L|MAP4K3_ENST00000536018.1_Missense_Mutation_p.V215L|MAP4K3_ENST00000341681.5_Missense_Mutation_p.V641L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	662	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTTGCTGATACAGAAAATTTC	0.348000													10	57					0.00829132	0.00880347	0.008291	1	0
KIF19	124602	broad.mit.edu	37	17	72345400	72345400	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:72345400C>A	ENST00000389916.4	+	10	1263	c.1125C>A	c.(1123-1125)atC>atA	p.I375I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	375					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGGGCGAGATCCAGCGACTCA	0.637000													10	51					1.58986e-06	2.01827e-06	0.008291	1	0
RFWD2	64326	broad.mit.edu	37	1	176153798	176153798	+	Silent	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:176153798T>C	ENST00000367669.3	-	2	952	c.438A>G	c.(436-438)gcA>gcG	p.A146A	RFWD2_ENST00000308769.8_Silent_p.A146A	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	146					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTGTCATGTATGCTTCTTCAA	0.279000													28	146					0	0	0.009535	0	0
KCNK2	3776	broad.mit.edu	37	1	215342686	215342686	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:215342686T>C	ENST00000444842.2	+	4	770	c.620T>C	c.(619-621)gTg>gCg	p.V207A	KCNK2_ENST00000391894.2_Missense_Mutation_p.V192A|KCNK2_ENST00000391895.2_Missense_Mutation_p.V203A	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	207							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	attgccaaagtggaAGATACG	0.338000													13	36					0	0	0.013537	0	0
GAD2	2572	broad.mit.edu	37	10	26559665	26559665	+	Missense_Mutation	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:26559665A>G	ENST00000376261.3	+	10	1575	c.1072A>G	c.(1072-1074)Aag>Gag	p.K358E	GAD2_ENST00000259271.3_Missense_Mutation_p.K358E	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	358					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CAAAAAGTATAAGATCTGGAT	0.468000													22	111					0	0	0.014323	0	0
ABCA10	10349	broad.mit.edu	37	17	67197675	67197675	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:67197675C>A	ENST00000269081.4	-	11	2050	c.1141G>T	c.(1141-1143)Gtg>Ttg	p.V381L	ABCA10_ENST00000416101.2_Missense_Mutation_p.V381L|ABCA10_ENST00000432313.2_Missense_Mutation_p.V381L	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	381					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCTGGAGACACCGGTTCAAAA	0.358000													10	50					0.000978159	0.00108381	0.010729	1	0
PCDH15	65217	broad.mit.edu	37	10	56128918	56128918	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:56128918T>A	ENST00000373965.2	-	5	830	c.436A>T	c.(436-438)Act>Tct	p.T146S	PCDH15_ENST00000395433.1_Missense_Mutation_p.T124S|PCDH15_ENST00000395446.1_Missense_Mutation_p.T146S|PCDH15_ENST00000373955.1_Missense_Mutation_p.T146S|PCDH15_ENST00000395442.1_Missense_Mutation_p.T146S|PCDH15_ENST00000395432.2_Missense_Mutation_p.T146S|PCDH15_ENST00000395438.1_Missense_Mutation_p.T146S|PCDH15_ENST00000395445.1_Missense_Mutation_p.T146S|PCDH15_ENST00000320301.6_Missense_Mutation_p.T146S|PCDH15_ENST00000373957.3_Missense_Mutation_p.T124S|PCDH15_ENST00000395440.1_Missense_Mutation_p.T146S|PCDH15_ENST00000414778.1_Missense_Mutation_p.T151S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T146S|PCDH15_ENST00000437009.1_Missense_Mutation_p.T146S|PCDH15_ENST00000361849.3_Missense_Mutation_p.T146S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	146	Cadherin 1.				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)				TGCTTGAAAGTGGGTGAGTTG	0.408000										HNSCC(58;0.16)			7	27					0	0	0.003080	0	0
COL5A1	1289	broad.mit.edu	37	9	137676928	137676928	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr9:137676928C>T	ENST00000371817.3	+	30	2992	c.2578C>T	c.(2578-2580)Ccc>Tcc	p.P860S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	860	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCCTCTGGGACCCCCTGGGGA	0.657000													4	44					0	0	0.009096	0	0
ACE2	59272	broad.mit.edu	37	X	15618935	15618935	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:15618935G>T	ENST00000427411.1	-	2	316	c.100C>A	c.(100-102)Cac>Aac	p.H34N	ACE2_ENST00000252519.3_Missense_Mutation_p.H34N	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	34	Interaction with SARS-CoV spike glycoprotein.				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCGGCTTCGTGGTTAAACTTG	0.438000													15	92					1.05317e-09	1.53981e-09	0.020292	1	0
CDYL	9425	broad.mit.edu	37	6	4892523	4892523	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:4892523G>T	ENST00000328908.5	+	4	894	c.763G>T	c.(763-765)Ggg>Tgg	p.G255W	CDYL_ENST00000343762.5_Missense_Mutation_p.G69W|CDYL_ENST00000449732.2_Missense_Mutation_p.G69W|CDYL_ENST00000397588.3_Missense_Mutation_p.G201W|CDYL_ENST00000472453.1_Intron			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	255					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGCCAGGATGGGGAGCAGGCC	0.642000													13	56					5.50884e-06	6.67356e-06	0.013537	1	0
ACOXL	55289	broad.mit.edu	37	2	111850528	111850528	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:111850528G>T	ENST00000389811.4	+	18	1841	c.1617G>T	c.(1615-1617)acG>acT	p.T539T	ACOXL_ENST00000439055.1_Silent_p.T509T			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	539					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGGCCAGCACGAGGATCAGGA	0.483000													14	60					4.3838e-07	5.72505e-07	0.016723	1	0
PIEZO2	63895	broad.mit.edu	37	18	10696216	10696216	+	Missense_Mutation	SNP	A	A	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:10696216A>C	ENST00000302079.6	-	43	6706	c.6707T>G	c.(6706-6708)aTg>aGg	p.M2236R	PIEZO2_ENST00000285141.4_Missense_Mutation_p.M91R|PIEZO2_ENST00000503781.3_Missense_Mutation_p.M2236R|PIEZO2_ENST00000538948.1_Missense_Mutation_p.M193R|PIEZO2_ENST00000580640.1_Missense_Mutation_p.M2261R			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2236						integral to membrane	ion channel activity										AATGAGGACCATCACCAAAAA	0.522000													10	58					0	0	0.008291	0	0
NALCN	259232	broad.mit.edu	37	13	101726022	101726022	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr13:101726022T>C	ENST00000251127.6	-	37	4192	c.4111A>G	c.(4111-4113)Aat>Gat	p.N1371D		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1371						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAAGAAAAATTTGCATGCCTA	0.358000													3	33					0	0	0.004672	0	0
ABCC11	85320	broad.mit.edu	37	16	48212511	48212511	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:48212511C>A	ENST00000394747.1	-	23	3694	c.3345G>T	c.(3343-3345)atG>atT	p.M1115I	ABCC11_ENST00000353782.5_Missense_Mutation_p.M1115I|ABCC11_ENST00000394748.1_Missense_Mutation_p.M1115I|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.M1115I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1115						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ACCCCACCTTCATGTACTGCA	0.587000													17	88					6.94344e-10	1.01752e-09	0.006122	1	0
CRB1	23418	broad.mit.edu	37	1	197396975	197396975	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:197396975G>A	ENST00000367397.1	+	3	1521	c.663G>A	c.(661-663)gaG>gaA	p.E221E	CRB1_ENST00000367399.2_Silent_p.E728E|CRB1_ENST00000535699.1_Silent_p.E771E|CRB1_ENST00000367400.3_Silent_p.E840E|CRB1_ENST00000544212.1_Silent_p.E321E|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	840	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAAGCAAGAGACTGAACTTA	0.388000													10	24					0	0	0.008291	0	0
MAP4K2	5871	broad.mit.edu	37	11	64564003	64564003	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:64564003C>A	ENST00000294066.2	-	23	1686	c.1595G>T	c.(1594-1596)tGg>tTg	p.W532L	MAP4K2_ENST00000377350.3_Missense_Mutation_p.W524L	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	532	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GCAGTAGAGCCAGGAGCAGCG	0.657000													14	77					0.000151284	0.000172123	0.016723	1	0
ZNF578	147660	broad.mit.edu	37	19	53015320	53015320	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:53015320C>T	ENST00000421239.2	+	6	1930	c.1686C>T	c.(1684-1686)agC>agT	p.S562S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GAATTCATAGCGGAGAGAAAC	0.388000													8	46					0	0	0.004482	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121757	117121757	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:117121757C>T	ENST00000310357.3	-	4	1559	c.1538G>A	c.(1537-1539)aGg>aAg	p.R513K	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R338K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	513					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTAAGATTCCTGAACTCATT	0.418000													14	45					0	0	0.020292	0	0
ACSL1	2180	broad.mit.edu	37	4	185694265	185694265	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:185694265G>A	ENST00000515030.1	-	10	1210	c.885C>T	c.(883-885)agC>agT	p.S295S	ACSL1_ENST00000454703.2_Silent_p.S124S|ACSL1_ENST00000507295.1_Silent_p.S261S|ACSL1_ENST00000504342.1_Silent_p.S295S|ACSL1_ENST00000281455.2_Silent_p.S295S|ACSL1_ENST00000504900.1_Silent_p.S295S|ACSL1_ENST00000437665.3_Silent_p.S124S|ACSL1_ENST00000513317.1_Silent_p.S295S			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	295					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGAACAATCGCTCACTATGT	0.428000													11	48					0	0	0.016723	0	0
RP1L1	94137	broad.mit.edu	37	8	10466663	10466663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:10466663C>A	ENST00000382483.3	-	4	5168	c.4945G>T	c.(4945-4947)Gag>Tag	p.E1649*		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1649					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCGCCTCCTCGCCCAGCTGG	0.682000													9	30					3.09899e-07	4.08065e-07	0.004482	1	0
CREBZF	58487	broad.mit.edu	37	11	85375677	85375677	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:85375677C>T	ENST00000527447.1	-	1	469	c.243G>A	c.(241-243)gaG>gaA	p.E81E	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_5'UTR|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	81					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				CCTCCATCTCCTCGGGGGAGG	0.697000													23	111					0	0	0.018920	0	0
CCKAR	886	broad.mit.edu	37	4	26483303	26483303	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:26483303C>A	ENST00000295589.3	-	5	1438	c.1244G>T	c.(1243-1245)aGg>aTg	p.R415M		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	415					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTACGAGAACCTGGACAGAGA	0.642000													23	131					1.55469e-16	2.76197e-16	0.018920	1	0
KIF21B	23046	broad.mit.edu	37	1	200978394	200978394	+	Splice_Site	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:200978394C>A	ENST00000332129.2	-	2	580	c.264_splice	c.e2+1	p.Q88_splice	KIF21B_ENST00000461742.2_Splice_Site_p.Q88_splice|KIF21B_ENST00000360529.5_Splice_Site_p.Q88_splice|KIF21B_ENST00000422435.2_Splice_Site_p.Q88_splice	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	88	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATGGCTTACCTGCCCATAGG	0.562000													13	25					2.27111e-07	3.00297e-07	0.013537	1	0
AMER1	139285	broad.mit.edu	37	X	63411755	63411755	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:63411755T>C	ENST00000330258.3	-	2	1684	c.1412A>G	c.(1411-1413)tAt>tGt	p.Y471C	AMER1_ENST00000403336.1_Missense_Mutation_p.Y471C|AMER1_ENST00000374869.3_Missense_Mutation_p.Y471C	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GGAGTCATAATAACCTTCATC	0.542000													12	57					0	0	0.010729	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984797	140984797	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:140984797C>T	ENST00000298296.1	+	7	1253	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Missense_Mutation_p.S40F|MAGEC3_ENST00000409007.1_Missense_Mutation_p.S120F|MAGEC3_ENST00000544766.1_Missense_Mutation_p.S120F|MAGEC3_ENST00000536088.1_Missense_Mutation_p.S120F	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	418										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					cctcTAGACTCCTGCTCATCC	0.572000													3	20					0	0	0.004672	0	0
COL12A1	1303	broad.mit.edu	37	6	75840577	75840577	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:75840577C>A	ENST00000322507.8	-	36	6367	c.6058G>T	c.(6058-6060)Ggc>Tgc	p.G2020C	COL12A1_ENST00000483888.2_Missense_Mutation_p.G2020C|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2020C|COL12A1_ENST00000345356.6_Missense_Mutation_p.G856C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2020	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CGCGTTCGGCCCTGGGCAGGG	0.567000													12	46					0.00010058	0.000114639	0.013537	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725254	140725254	+	Missense_Mutation	SNP	G	G	T	rs2879227		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140725254G>T	ENST00000253812.6	+	1	1654	c.1654G>T	c.(1654-1656)Gtg>Ttg	p.V552L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCTGTTCGTGCTGGACCA	0.617000													55	223					1.10885e-35	2.14355e-35	0.014410	1	0
GPR158	57512	broad.mit.edu	37	10	25701316	25701316	+	Nonsense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:25701316C>T	ENST00000376351.3	+	4	1608	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	417						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TAAGTATTTACGACTTGCCAT	0.512000													7	223					0	0	0.006214	0	0
FUCA2	2519	broad.mit.edu	37	6	143823540	143823540	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:143823540C>G	ENST00000002165.5	-	4	970	c.915G>C	c.(913-915)agG>agC	p.R305S	FUCA2_ENST00000438118.2_Intron|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	305					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CAGCTTCCCTCCTATAGCCCC	0.408000													8	190					0	0	0.006214	0	0
KCNH8	131096	broad.mit.edu	37	3	19575454	19575454	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:19575454T>A	ENST00000328405.2	+	16	3453	c.3187T>A	c.(3187-3189)Ttc>Atc	p.F1063I		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1063	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGTGAGTTCCTTCAGTCTGGA	0.483000													9	70					0	0	0.004482	0	0
PREB	10113	broad.mit.edu	37	2	27355541	27355541	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:27355541C>G	ENST00000260643.2	-	5	935	c.682G>C	c.(682-684)Gtg>Ctg	p.V228L	PREB_ENST00000406567.3_Missense_Mutation_p.V228L	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	228					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTGTGTCACCAGCTGATCC	0.532000													12	71					0	0	0.013537	0	0
SRSF11	9295	broad.mit.edu	37	1	70715696	70715696	+	Missense_Mutation	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:70715696A>G	ENST00000370950.3	+	11	1166	c.1084A>G	c.(1084-1086)Aaa>Gaa	p.K362E	SRSF11_ENST00000405432.1_Missense_Mutation_p.K362E|SRSF11_ENST00000370949.1_Missense_Mutation_p.K302E|SRSF11_ENST00000370951.1_Missense_Mutation_p.K362E|SRSF11_ENST00000484162.1_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	362					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						TCGGTCTCCTAAAAGAAAATT	0.368000													11	52					0	0	0.010729	0	0
MGAT4B	11282	broad.mit.edu	37	5	179227594	179227594	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:179227594G>T	ENST00000337755.5	-	5	1540	c.654C>A	c.(652-654)ttC>ttA	p.F218L	MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Missense_Mutation_p.F203L	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	203					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCGTGGGGAACCTGGGGG	0.647000													4	29					1.23904e-05	1.47295e-05	0.014758	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140732157	140732157	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140732157T>A	ENST00000523390.1	+	1	2330	c.2330T>A	c.(2329-2331)cTg>cAg	p.L777Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGATCTGCTGTGTGATGAT	0.433000													8	32					0	0	0.003080	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192798	132192798	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:132192798G>T	ENST00000359827.3	-	2	1617	c.655C>A	c.(655-657)Cat>Aat	p.H219N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.H219N|PLXNA4_ENST00000378539.5_Missense_Mutation_p.H219N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.H219N			Q9HCM2	PLXA4_HUMAN	plexin A4	219	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACTCATCATGGAAGACGTAC	0.507000													17	118					6.49762e-13	1.05961e-12	0.006122	1	0
CEP55	55165	broad.mit.edu	37	10	95276916	95276916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:95276916G>T	ENST00000371485.3	+	6	1208	c.904G>T	c.(904-906)Gag>Tag	p.E302*		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	302					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GCATAAAACAGAGAAGATACA	0.368000													24	80					6.32553e-13	1.03954e-12	0.024334	1	0
NRXN2	9379	broad.mit.edu	37	11	64393933	64393933	+	Splice_Site	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:64393933A>G	ENST00000265459.6	-	20	4309		c.e20+1		NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000301894.2_Splice_Site|NRXN2_ENST00000409571.1_Splice_Site|NRXN2_ENST00000377551.1_Splice_Site	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2						cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTGGTTAATTACCTTTGTCGA	0.433000													15	37					0	0	0.020292	0	0
CLEC6A	93978	broad.mit.edu	37	12	8628804	8628804	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:8628804G>T	ENST00000382073.3	+	5	639	c.453G>T	c.(451-453)tgG>tgT	p.W151C		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	151	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					attggcaatggattgataaga	0.363000													14	66					4.3838e-07	5.72505e-07	0.016723	1	0
BBOX1	8424	broad.mit.edu	37	11	27147268	27147268	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:27147268G>T	ENST00000263182.3	+	8	1272	c.904G>T	c.(904-906)Gtg>Ttg	p.V302L	BBOX1_ENST00000525090.1_Missense_Mutation_p.V302L|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.V302L|BBOX1_ENST00000528583.1_Missense_Mutation_p.V302L|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	302					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	aatatttgatgtgcctgttga	0.363000													4	31					0.00909568	0.00957757	0.009096	1	0
PNMA3	29944	broad.mit.edu	37	X	152226044	152226044	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:152226044G>T	ENST00000447306.1	+	2	968	c.632G>T	c.(631-633)gGc>gTc	p.G211V	PNMA3_ENST00000370265.4_Missense_Mutation_p.G211V|PNMA3_ENST00000370264.4_Missense_Mutation_p.G211V	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	211					apoptosis	nucleolus	nucleic acid binding|zinc ion binding	p.G211V(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					tgcttacggggccctgctctc	0.612000													20	135					8.00594e-06	9.66182e-06	0.007413	1	0
RNMT	8731	broad.mit.edu	37	18	13731900	13731900	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:13731900A>T	ENST00000383314.2	+	3	624	c.384A>T	c.(382-384)aaA>aaT	p.K128N	RNMT_ENST00000535051.1_Intron|RNMT_ENST00000592764.1_Missense_Mutation_p.K128N|RNMT_ENST00000589866.1_Missense_Mutation_p.K128N|RNMT_ENST00000543302.2_Missense_Mutation_p.K128N|RNMT_ENST00000262173.3_Missense_Mutation_p.K128N			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	128					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ATAAGAGAAAAATAGCACTTG	0.348000													13	77					0	0	0.016723	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990654	15990654	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:15990654C>A	ENST00000221700.5	-	10	1264	c.1169G>T	c.(1168-1170)cGg>cTg	p.R390L	CYP4F2_ENST00000592328.1_Missense_Mutation_p.R390L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	390					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGGATGCAGCCGCAGGCTCTC	0.612000													28	137					1.74197e-06	2.20696e-06	0.030593	1	0
CXorf56	63932	broad.mit.edu	37	X	118699205	118699205	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:118699205G>T	ENST00000371594.4	-	1	192	c.114C>A	c.(112-114)gtC>gtA	p.V38V	CXorf56_ENST00000536133.1_Silent_p.V38V|CXorf56_ENST00000476164.1_Silent_p.V38V|CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000486230.1_Silent_p.V38V	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	38							protein binding			cervix(1)|endometrium(2)|lung(7)	10						CCAGCACTAGGACCATCTGGC	0.582000													21	151					8.04996e-18	1.45448e-17	0.012319	1	0
LCE1F	353137	broad.mit.edu	37	1	152749092	152749092	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:152749092G>T	ENST00000334371.2	+	1	245	c.245G>T	c.(244-246)cGg>cTg	p.R82L		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	82	Poly-Arg.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCACAGACGGCGTAGGTCC	0.701000													8	79					0.000157383	0.000178424	0.003080	1	0
ADAMTS8	11095	broad.mit.edu	37	11	130275652	130275652	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:130275652G>T	ENST00000257359.6	-	9	3177	c.2471C>A	c.(2470-2472)aCc>aAc	p.T824N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	824	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GATGTTGGTGGTTGCTCTCTC	0.572000													47	191					2.64894e-19	4.88327e-19	0.014410	1	0
C3orf30	152405	broad.mit.edu	37	3	118865774	118865774	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:118865774G>A	ENST00000295622.1	+	1	778	c.738G>A	c.(736-738)tcG>tcA	p.S246S		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	246								p.S246S(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACAGTGGATCGTCCGTACCAT	0.468000													6	80					0	0	0.003080	0	0
URGCP	55665	broad.mit.edu	37	7	43917673	43917673	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:43917673G>T	ENST00000336086.6	-	4	3496	c.1260C>A	c.(1258-1260)gaC>gaA	p.D420E	RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.D420E|URGCP_ENST00000447717.3_Missense_Mutation_p.D420E|URGCP_ENST00000443736.1_Missense_Mutation_p.D420E|URGCP_ENST00000453200.1_Missense_Mutation_p.D463E|URGCP_ENST00000402306.3_Missense_Mutation_p.D454E			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	463					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACAGTCCTCGTCGACCTTTA	0.592000													35	149					2.49991e-28	4.74611e-28	0.015359	1	0
MECP2	4204	broad.mit.edu	37	X	153295921	153295921	+	Missense_Mutation	SNP	C	C	A	rs61753980		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:153295921C>A	ENST00000303391.6	-	4	1607	c.1358G>T	c.(1357-1359)cGa>cTa	p.R453L	MECP2_ENST00000453960.2_Missense_Mutation_p.R465L	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	453			R -> Q (in MRXS13).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTCCCCTCGGTGTTTGTA	0.622000													79	450					7.83748e-43	1.52903e-42	0.014410	1	0
RIMS2	9699	broad.mit.edu	37	8	105257206	105257206	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:105257206G>T	ENST00000507740.1	+	18	3075	c.2839G>T	c.(2839-2841)Gaa>Taa	p.E947*	RIMS2_ENST00000262231.10_Nonsense_Mutation_p.E972*|RIMS2_ENST00000339750.2_Nonsense_Mutation_p.E69*|RIMS2_ENST00000436393.2_Nonsense_Mutation_p.E1151*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.E1133*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1195					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGGCCGTGGAAATGAGGAA	0.463000										HNSCC(12;0.0054)			33	127					1.99505e-19	3.69928e-19	0.012213	1	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53216956	53216956	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr13:53216956G>T	ENST00000342657.3	+	7	1402	c.329G>T	c.(328-330)gGt>gTt	p.G110V	HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.G110V|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.G110V	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	110	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						ATATTTGTTGGTGGCATTAAA	0.408000													3	26					0.004672	0.00499394	0.004672	1	0
GLUD2	2747	broad.mit.edu	37	X	120182641	120182641	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:120182641A>T	ENST00000328078.1	+	1	1180	c.1103A>T	c.(1102-1104)gAa>gTa	p.E368V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	368					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AAGCCCTATGAAGGAAGCATC	0.488000													34	225					0	0	0.012213	0	0
AZU1	566	broad.mit.edu	37	19	831859	831859	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:831859G>A	ENST00000233997.2	+	5	759	c.738G>A	c.(736-738)ccG>ccA	p.P246P		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	246					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAACAACCCGGGACCGGGGC	0.711000													12	77					0	0	0.024245	0	0
MRAP2	112609	broad.mit.edu	37	6	84799141	84799141	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:84799141C>A	ENST00000257776.4	+	4	694	c.559C>A	c.(559-561)Cca>Aca	p.P187T		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	187					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GATTTCTGAACCACCTATTGT	0.463000													9	53					3.86212e-05	4.47415e-05	0.008291	1	0
GRHL1	29841	broad.mit.edu	37	2	10126264	10126264	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:10126264G>T	ENST00000324907.9	+	9	1259	c.1123G>T	c.(1123-1125)Gtg>Ttg	p.V375L	GRHL1_ENST00000405379.2_Missense_Mutation_p.V375L|GRHL1_ENST00000324883.5_Missense_Mutation_p.V186L	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	375					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TTTCATCTCTGTGAACTGCTT	0.423000													50	177					1.51926e-22	2.8419e-22	0.014410	1	0
RGAG4	340526	broad.mit.edu	37	X	71351284	71351284	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:71351284A>T	ENST00000545866.1	-	1	474	c.107T>A	c.(106-108)cTc>cAc	p.L36H	RGAG4_ENST00000479991.1_Missense_Mutation_p.L36H|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	36										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGCTCTCCCGAGCTGGAGGCC	0.592000													14	94					0	0	0.016723	0	0
GABRA6	2559	broad.mit.edu	37	5	161128728	161128728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:161128728G>A	ENST00000523217.1	+	9	1523	c.1281G>A	c.(1279-1281)tgG>tgA	p.W427*	GABRA6_ENST00000274545.5_Nonsense_Mutation_p.W437*	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	437					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.W437C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGTGTACTGGGTAGTTTATC	0.443000										TCGA Ovarian(5;0.080)			12	55					0	0	0.013537	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069174	6069174	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:6069174G>C	ENST00000381095.3	-	2	961	c.334C>G	c.(334-336)Cag>Gag	p.Q112E	NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q112E|NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q112E|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q112E|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q112E|NLGN4X_ENST00000469740.1_5'UTR	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	112					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCCAGGTGCTGGGGGCACACA	0.527000													25	106					0	0	0.021523	0	0
TP53	7157	broad.mit.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:7578290C>T	ENST00000420246.2	-	6	692		c.e6-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		GGGGCCAGACCTAAGAGCAAT	0.552000		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)			10	40					0	0	0.006214	0	0
IGF2R	3482	broad.mit.edu	37	6	160468236	160468236	+	Silent	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:160468236A>G	ENST00000356956.1	+	16	2245	c.2097A>G	c.(2095-2097)tcA>tcG	p.S699S		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	699					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGAAGCTTTCATATTATGATG	0.458000													11	58					0	0	0.008291	0	0
BCORL1	63035	broad.mit.edu	37	X	129149725	129149725	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:129149725C>T	ENST00000540052.1	+	3	3021	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y	BCORL1_ENST00000218147.7_Missense_Mutation_p.H993Y|BCORL1_ENST00000303743.5_Missense_Mutation_p.H993Y|BCORL1_ENST00000359304.2_Missense_Mutation_p.H993Y	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	993					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						CTACATGTCCCATGAGCTGGT	0.582000													28	116					0	0	0.030593	0	0
MAP2	4133	broad.mit.edu	37	2	210560641	210560641	+	Silent	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:210560641C>G	ENST00000360351.4	+	7	4253	c.3747C>G	c.(3745-3747)ctC>ctG	p.L1249L	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.L1245L|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1249					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATAAACTGCTCTTCCGCTCAG	0.483000													11	65					0	0	0.008291	0	0
ACOT11	26027	broad.mit.edu	37	1	55060276	55060276	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:55060276G>A	ENST00000371316.3	+	6	601	c.519G>A	c.(517-519)gaG>gaA	p.E173E	ACOT11_ENST00000343744.2_Silent_p.E173E|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	173					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						AGAAGATGGAGCACAGTGTGG	0.622000													7	34					0	0	0.003080	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69111267	69111267	+	Splice_Site	SNP	A	A	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:69111267A>C	ENST00000332644.5	-	1	170		c.e1+1			NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AGTCCCCTTTACCTGTACATA	0.358000													19	70					0	0	0.010504	0	0
NR5A1	2516	broad.mit.edu	37	9	127255381	127255381	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr9:127255381C>T	ENST00000373588.4	-	5	1114	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	306	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GGTCGAACACCAGCAGCTCGC	0.692000													14	20					0	0	0.016723	0	0
UTS2R	2837	broad.mit.edu	37	17	80332682	80332682	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:80332682G>T	ENST00000313135.2	+	1	530	c.482G>T	c.(481-483)cGc>cTc	p.R161L		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	161						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			ACCGTGCAGCGCCCCAAGGGC	0.701000													6	15					0.0293803	0.0304331	0.029380	1	0
CENPE	1062	broad.mit.edu	37	4	104101595	104101595	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:104101595T>A	ENST00000265148.3	-	13	1204	c.1115A>T	c.(1114-1116)gAa>gTa	p.E372V	CENPE_ENST00000380026.3_Missense_Mutation_p.E372V|CENPE_ENST00000509120.1_5'UTR	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	372					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGGTCTTTTTCCATTGCCTG	0.353000													5	43					0	0	0.029380	0	0
NXPE1	120400	broad.mit.edu	37	11	114392778	114392778	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:114392778A>T	ENST00000536271.1	-	4	1947	c.704T>A	c.(703-705)aTg>aAg	p.M235K	NXPE1_ENST00000424269.1_Missense_Mutation_p.M519K|NXPE1_ENST00000251921.2_Missense_Mutation_p.M377K					neurexophilin and PC-esterase domain family, member 1																		TGCAATGGTCATGTCCCAGGC	0.398000													22	60					0	0	0.014323	0	0
SALL1	6299	broad.mit.edu	37	16	51175648	51175648	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:51175648C>T	ENST00000440970.1	-	2	625	c.194G>A	c.(193-195)gGc>gAc	p.G65D	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G162D	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	162					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGAgctgccgccgccgccgct	0.627000													22	45					0	0	0.010504	0	0
QSER1	79832	broad.mit.edu	37	11	32953644	32953644	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:32953644G>T	ENST00000399302.2	+	4	788	c.453G>T	c.(451-453)ttG>ttT	p.L151F	QSER1_ENST00000527788.1_Missense_Mutation_p.L151F	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	151	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AATTTAGTTTGTTGCCTTCAG	0.458000													26	130					5.45024e-15	9.31815e-15	0.018920	1	0
TMEM179B	374395	broad.mit.edu	37	11	62557391	62557391	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:62557391G>C	ENST00000333449.4	+	5	537	c.532G>C	c.(532-534)Gtg>Ctg	p.V178L	TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000525631.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	178						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						ATTGTGGTGTGTGGTCTTGGT	0.557000													21	184					0	0	0.012319	0	0
KMT2C	58508	broad.mit.edu	37	7	151970805	151970805	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:151970805G>T	ENST00000355193.2	-	7	1215	c.997C>A	c.(997-999)Caa>Aaa	p.Q333K	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q333K					lysine (K)-specific methyltransferase 2C																		TCAGGAGCTTGGTCAATGTGT	0.383000													8	202					0.00307968	0.00333676	0.003080	1	0
DCC	1630	broad.mit.edu	37	18	50450202	50450202	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:50450202C>A	ENST00000442544.2	+	4	1439	c.823C>A	c.(823-825)Cga>Aga	p.R275R	DCC_ENST00000412726.1_Silent_p.R123R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	275	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TACCTGGTTACGAGGCGAGGA	0.373000													9	42					4.68919e-08	6.42742e-08	0.008291	1	0
AKAP6	9472	broad.mit.edu	37	14	33291625	33291625	+	Missense_Mutation	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:33291625A>G	ENST00000280979.4	+	13	4776	c.4606A>G	c.(4606-4608)Atg>Gtg	p.M1536V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1536					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATCTCATGAAATGGATCGCAT	0.358000													4	78					0	0	0.009096	0	0
LRRC14B	389257	broad.mit.edu	37	5	195068	195068	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:195068T>A	ENST00000328278.3	+	2	1173	c.1145T>A	c.(1144-1146)cTg>cAg	p.L382Q		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	382										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						ATGCTGATCCTGGGCCTGAGC	0.662000													19	48					0	0	0.007413	0	0
TPSD1	23430	broad.mit.edu	37	16	1308350	1308350	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:1308350C>A	ENST00000211076.3	+	5	850	c.702C>A	c.(700-702)ccC>ccA	p.P234P	TPSD1_ENST00000397534.2_Silent_p.P227P	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	234	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CTGGAGGGCCCCTGGTCTGCA	0.667000													17	68					3.52763e-06	4.35645e-06	0.033300	1	0
MAGT1	84061	broad.mit.edu	37	X	77112936	77112936	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:77112936C>A	ENST00000358075.6	-	4	631	c.545G>T	c.(544-546)cGg>cTg	p.R182L		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	150					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R150L(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TGTATCACCCCGTTTGGGTTT	0.423000													22	195					1.10513e-12	1.79302e-12	0.014323	1	0
FCRLA	84824	broad.mit.edu	37	1	161683163	161683163	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:161683163C>T	ENST00000367959.2	+	6	1384	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	FCRLA_ENST00000367949.2_Missense_Mutation_p.A191V|FCRLA_ENST00000349527.4_Missense_Mutation_p.A263V|FCRLA_ENST00000236938.6_Missense_Mutation_p.A375V|FCRLA_ENST00000309691.6_Missense_Mutation_p.A269V|FCRLA_ENST00000546024.1_Missense_Mutation_p.A286V|FCRLA_ENST00000540521.1_Missense_Mutation_p.A241V|FCRLA_ENST00000294796.4_Missense_Mutation_p.A224V|FCRLA_ENST00000367950.1_Missense_Mutation_p.A151V|FCRLA_ENST00000367953.3_Missense_Mutation_p.A364V|FCRLA_ENST00000367957.2_Missense_Mutation_p.A235V|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Missense_Mutation_p.A140V|FCRLA_ENST00000540926.1_Missense_Mutation_p.A364V	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	358					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			AAGGCTACTGCTGAATAGAAG	0.453000													8	74					0	0	0.004482	0	0
DST	667	broad.mit.edu	37	6	56471533	56471533	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:56471533A>T	ENST00000370754.5	-	39	7793	c.7794T>A	c.(7792-7794)gaT>gaA	p.D2598E	DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.D2094E|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.D2420E|DST_ENST00000361203.3_Missense_Mutation_p.D2420E|DST_ENST00000312431.6_Missense_Mutation_p.D2420E			Q03001	DYST_HUMAN	dystonin	2420	Poly-Asp.				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)			AATCACGATCATCACCATCAA	0.413000													14	78					0	0	0.016723	0	0
PDK3	5165	broad.mit.edu	37	X	24552145	24552145	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:24552145A>T	ENST00000441463.2	+	11	1177	c.1177A>T	c.(1177-1179)Agc>Tgc	p.S393C	PDK3_ENST00000379162.4_Missense_Mutation_p.S393C	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	393					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAGCAATCCCAGCAGTGAACC	0.428000													3	33					0	0	0.009096	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546820	37546820	+	Silent	SNP	C	C	G	rs138542212	by1000genomes	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr20:37546820C>G	ENST00000299824.1	+	11	1404	c.1215C>G	c.(1213-1215)ccC>ccG	p.P405P	PPP1R16B_ENST00000373331.2_Silent_p.P363P	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	405					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGGAGAAGCCCGTGCTACTCT	0.557000													36	133					0	0	0.021022	0	0
CLEC6A	93978	broad.mit.edu	37	12	8628803	8628803	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:8628803G>T	ENST00000382073.3	+	5	638	c.452G>T	c.(451-453)tGg>tTg	p.W151L		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	151	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					aattggcaatggattgataag	0.363000													14	65					4.3838e-07	5.72505e-07	0.016723	1	0
CLSTN2	64084	broad.mit.edu	37	3	140185493	140185493	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:140185493C>A	ENST00000458420.3	+	8	1454	c.1264C>A	c.(1264-1266)Cgc>Agc	p.R422S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	422					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCACAACTGCCGCCTCGTCTT	0.542000										HNSCC(16;0.037)			4	72					1.024e-07	1.38862e-07	0.014758	1	0
TGFBR3	7049	broad.mit.edu	37	1	92161256	92161256	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:92161256C>A	ENST00000212355.4	-	16	2875	c.2410G>T	c.(2410-2412)Gcc>Tcc	p.A804S	TGFBR3_ENST00000525962.1_Missense_Mutation_p.A804S|TGFBR3_ENST00000370399.2_Missense_Mutation_p.A803S	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	804					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)		TACCACAAGGCCCCCGTCAGG	0.483000													8	104					1.12685e-05	1.34461e-05	0.004482	1	0
PGAP1	80055	broad.mit.edu	37	2	197712671	197712671	+	Splice_Site	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:197712671C>A	ENST00000354764.3	-	21	2066	c.1952_splice	c.e21+1	p.G651_splice	PGAP1_ENST00000409475.1_3'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	651					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TAAAACTTACCCCAACAGAAA	0.294000													4	34					0.00909568	0.00957757	0.009096	1	0
RIMS1	22999	broad.mit.edu	37	6	72960115	72960115	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:72960115G>A	ENST00000264839.7	+	13	2324	c.2324G>A	c.(2323-2325)gGa>gAa	p.G775E	RIMS1_ENST00000517960.1_Missense_Mutation_p.G775E|RIMS1_ENST00000491071.2_Missense_Mutation_p.G775E|RIMS1_ENST00000521978.1_Missense_Mutation_p.G775E|RIMS1_ENST00000518273.1_Missense_Mutation_p.G775E|RIMS1_ENST00000523963.1_Missense_Mutation_p.G249E|RIMS1_ENST00000348717.5_Missense_Mutation_p.G775E|RIMS1_ENST00000520567.1_Missense_Mutation_p.G775E|RIMS1_ENST00000401910.3_Missense_Mutation_p.G249E|RIMS1_ENST00000522291.1_Missense_Mutation_p.G775E|RIMS1_ENST00000425662.2_Missense_Mutation_p.G168E|RIMS1_ENST00000517827.1_Missense_Mutation_p.G234E			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	775	C2 1.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAGTAGATGGACGTCCTCGA	0.348000													4	18					0	0	0.009096	0	0
ITIH6	347365	broad.mit.edu	37	X	54783638	54783638	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:54783638G>T	ENST00000218436.6	-	8	2898	c.2869C>A	c.(2869-2871)Ctg>Atg	p.L957M		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	957	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GATGGTCCCAGAACTTGCCTG	0.587000													19	64					6.94344e-10	1.01752e-09	0.006122	1	0
GPR112	139378	broad.mit.edu	37	X	135427714	135427714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:135427714G>T	ENST00000394143.1	+	6	2140	c.1849G>T	c.(1849-1851)Gga>Tga	p.G617*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.G554*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.G412*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.G617*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.G412*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	617					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)					TACAGCTGATGGACACTTGCT	0.473000													15	82					1.49906e-05	1.77212e-05	0.020292	1	0
UBXN2A	165324	broad.mit.edu	37	2	24205881	24205881	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:24205881G>T	ENST00000309033.4	+	5	647	c.403G>T	c.(403-405)Gga>Tga	p.G135*	UBXN2A_ENST00000535786.1_Nonsense_Mutation_p.G135*|UBXN2A_ENST00000404924.1_Nonsense_Mutation_p.G135*|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	135										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GCCCTTTTCAGGACAGGGTCA	0.368000													11	31					1.5842e-08	2.24399e-08	0.016723	1	0
MXRA5	25878	broad.mit.edu	37	X	3239278	3239278	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:3239278G>T	ENST00000217939.6	-	5	4602	c.4448C>A	c.(4447-4449)cCt>cAt	p.P1483H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1483						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCAGCAGTAGGGGTGTGATT	0.512000													17	66					1.15088e-07	1.53773e-07	0.028581	1	0
AC096579.13	0	broad.mit.edu	37	2	89117842	89117842	+	RNA	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:89117842G>T	ENST00000452230.1	-	0	140																											ACACCAGGGAGATGAGAAACA	0.502000													4	24					0.014758	0.0154123	0.014758	1	0
CDK8	1024	broad.mit.edu	37	13	26975623	26975623	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr13:26975623G>C	ENST00000381527.3	+	12	1634	c.1131G>C	c.(1129-1131)caG>caC	p.Q377H	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	377	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGCAGCAGCAGGGCAATAACC	0.468000													9	30					0	0	0.004482	0	0
SNTG1	54212	broad.mit.edu	37	8	51314903	51314903	+	Splice_Site	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:51314903G>T	ENST00000522124.1	+	4	822	c.162_splice	c.e4+1	p.G54_splice	SNTG1_ENST00000276467.5_Splice_Site_p.G54_splice|SNTG1_ENST00000517473.1_Splice_Site_p.G54_splice|SNTG1_ENST00000518864.1_Splice_Site_p.G54_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	54					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			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)				TTCTATTCTGGTGTAAGTAGC	0.358000													11	87					5.16669e-11	7.9181e-11	0.010729	1	0
CLCA4	22802	broad.mit.edu	37	1	87043639	87043639	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:87043639C>A	ENST00000370563.3	+	12	2048	c.2006C>A	c.(2005-2007)aCa>aAa	p.T669K	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	669						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACAGCATATACAGAAAATGGC	0.403000													8	34					5.18039e-06	6.36048e-06	0.003080	1	0
SPECC1	92521	broad.mit.edu	37	17	20108350	20108350	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:20108350G>T	ENST00000395530.2	+	2	953	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	SPECC1_ENST00000261503.5_Missense_Mutation_p.D330Y|SPECC1_ENST00000395525.3_Missense_Mutation_p.D249Y|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.D330Y|SPECC1_ENST00000395529.3_Missense_Mutation_p.D330Y|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.D249Y	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	330						nucleus		p.D330N(2)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGATGCTTCCGACTTTGAGCA	0.458000													18	185					2.39187e-15	4.14504e-15	0.008871	1	0
ACTR8	93973	broad.mit.edu	37	3	53904143	53904143	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:53904143T>A	ENST00000335754.3	-	12	1697	c.1597A>T	c.(1597-1599)Agc>Tgc	p.S533C	ACTR8_ENST00000488802.1_5'UTR|ACTR8_ENST00000231909.7_Missense_Mutation_p.S238C|ACTR8_ENST00000482349.1_Missense_Mutation_p.S422C	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	533					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AGGATGGAGCTGTACATCTTC	0.443000													12	66					0	0	0.020292	0	0
DNAJC7	7266	broad.mit.edu	37	17	40134324	40134324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:40134324C>A	ENST00000457167.4	-	11	1416	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	DNAJC7_ENST00000426588.3_Nonsense_Mutation_p.E338*|DNAJC7_ENST00000316603.7_Nonsense_Mutation_p.E338*	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	394	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ATCTCGTCCTCAGAGGCATTC	0.498000													10	73					0.000442599	0.000496461	0.006214	1	0
FRMD7	90167	broad.mit.edu	37	X	131212489	131212489	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:131212489G>C	ENST00000298542.4	-	12	1731	c.1556C>G	c.(1555-1557)cCa>cGa	p.P519R	FRMD7_ENST00000370879.1_Missense_Mutation_p.P399R|FRMD7_ENST00000464296.1_Missense_Mutation_p.P504R	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	519					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ATAGCTATGTGGACTTGTCCT	0.488000													37	203					0	0	0.027894	0	0
TGFBI	7045	broad.mit.edu	37	5	135383018	135383018	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:135383018G>C	ENST00000442011.2	+	6	841	c.680G>C	c.(679-681)gGg>gCg	p.G227A	TGFBI_ENST00000305126.8_Missense_Mutation_p.G227A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	227	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)			GCAACCAACGGGGTGGTGCAC	0.537000													28	186					0	0	0.034045	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48831665	48831665	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:48831665C>A	ENST00000376441.1	-	25	2369	c.2335G>T	c.(2335-2337)Gac>Tac	p.D779Y	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.D748Y|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.D734Y	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	779						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TTCACTAGGTCTCTCAGGACG	0.597000													6	44					0.00198382	0.00215677	0.029380	1	0
SMCHD1	23347	broad.mit.edu	37	18	2762143	2762143	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:2762143T>C	ENST00000320876.6	+	36	4813	c.4475T>C	c.(4474-4476)gTa>gCa	p.V1492A	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.V1492A	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1492					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTGAAGTTAGTACCTAAAATT	0.368000													17	61					0	0	0.008871	0	0
FAM198B	51313	broad.mit.edu	37	4	159048600	159048600	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:159048600T>C	ENST00000296530.8	-	5	2140	c.1519A>G	c.(1519-1521)Atc>Gtc	p.I507V	FAM198B_ENST00000585682.1_Missense_Mutation_p.I507V|FAM198B_ENST00000393807.5_Missense_Mutation_p.I515V	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	507						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGTGCATTGATATAGGTGATA	0.338000													35	157					0	0	0.023175	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160252815	160252815	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:160252815G>A	ENST00000264431.4	+	9	1545	c.1126G>A	c.(1126-1128)Gcg>Acg	p.A376T		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	376	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTTGAATATCGCGTGTGCTGC	0.403000													13	69					0	0	0.024245	0	0
ZIC4	84107	broad.mit.edu	37	3	147113693	147113693	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:147113693C>A	ENST00000383075.3	-	3	1146	c.634G>T	c.(634-636)Ggg>Tgg	p.G212W	ZIC4_ENST00000425731.3_Missense_Mutation_p.G250W|ZIC4_ENST00000525172.2_Missense_Mutation_p.G262W|ZIC4_ENST00000473123.1_Missense_Mutation_p.G212W|ZIC4_ENST00000484399.1_Missense_Mutation_p.G212W|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	212						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGACCTTCCCACACCCCGGG	0.537000													29	128					4.87955e-14	8.16683e-14	0.027356	1	0
CDH12	1010	broad.mit.edu	37	5	21752095	21752095	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:21752095G>A	ENST00000382254.1	-	15	3222	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	CDH12_ENST00000504376.2_Silent_p.D712D|CDH12_ENST00000522262.1_Silent_p.D672D|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	712					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AATCCCTTATGTCTGTGTTAT	0.453000										HNSCC(59;0.17)			15	67					0	0	0.024245	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377606	50377606	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:50377606G>T	ENST00000376020.2	-	4	1492	c.1467C>A	c.(1465-1467)caC>caA	p.H489Q	SHROOM4_ENST00000289292.7_Missense_Mutation_p.H489Q|SHROOM4_ENST00000460112.3_Missense_Mutation_p.H373Q	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	489					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTTGGCTCTGGTGTCCCAAAA	0.517000													17	120					9.16793e-09	1.30735e-08	0.033300	1	0
ZADH2	284273	broad.mit.edu	37	18	72913562	72913562	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:72913562C>A	ENST00000322342.3	-	2	1232	c.943G>T	c.(943-945)Gcc>Tcc	p.A315S	ZADH2_ENST00000537114.2_Missense_Mutation_p.A192S	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	315						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGGCTCATGGCTGCTTGATAC	0.522000													10	67					1.76689e-08	2.46435e-08	0.006214	1	0
KCNF1	3754	broad.mit.edu	37	2	11053359	11053359	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:11053359C>A	ENST00000295082.1	+	1	1297	c.807C>A	c.(805-807)agC>agA	p.S269R		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	269						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCTACGTGAGCCTCACGCTCA	0.617000													10	42					0.000673444	0.000748794	0.008291	1	0
TAS2R60	338398	broad.mit.edu	37	7	143141079	143141079	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:143141079G>T	ENST00000332690.1	+	1	534	c.534G>T	c.(532-534)tgG>tgT	p.W178C	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	178					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TACAACCTTGGAATGTCACTG	0.413000													27	158					5.61819e-17	1.0037e-16	0.027356	1	0
GTF2F1	2962	broad.mit.edu	37	19	6380303	6380303	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:6380303G>C	ENST00000394456.5	-	13	2007	c.1543C>G	c.(1543-1545)Ctc>Gtc	p.L515V	GTF2F1_ENST00000429701.2_Missense_Mutation_p.L430V	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	515					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CACTCCTTGAGGGAGAAGTGC	0.552000													30	176					0	0	0.030593	0	0
ACTN2	88	broad.mit.edu	37	1	236902752	236902752	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:236902752A>T	ENST00000366578.4	+	10	1193	c.1027A>T	c.(1027-1029)Atc>Ttc	p.I343F	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Missense_Mutation_p.I343F	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	343					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCAGCTGGAGATCAACTTCAA	0.582000													16	88					0	0	0.024245	0	0
PLCH2	9651	broad.mit.edu	37	1	2429996	2429996	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:2429996C>A	ENST00000449969.1	+	17	2339	c.2178C>A	c.(2176-2178)ccC>ccA	p.P726P	PLCH2_ENST00000419816.2_Silent_p.P753P|PLCH2_ENST00000378488.3_Silent_p.P717P|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Silent_p.P753P			O75038	PLCH2_HUMAN	phospholipase C, eta 2	753	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACCCCCTGCCCGGGCAGCTCA	0.687000													5	13					1.23904e-05	1.47295e-05	0.014758	1	0
CFAP54	144535	broad.mit.edu	37	12	97137624	97137624	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:97137624C>T	ENST00000524981.3	+	21	2846	c.2846C>T	c.(2845-2847)tCt>tTt	p.S949F				Q6ZTY8	CL063_HUMAN		923										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTCAAGGAATCTCCCTCTTCA	0.398000													3	27					0	0	0.004672	0	0
WNK3	65267	broad.mit.edu	37	X	54275959	54275959	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:54275959A>T	ENST00000354646.2	-	17	3260	c.2822T>A	c.(2821-2823)gTg>gAg	p.V941E	WNK3_ENST00000375159.2_Missense_Mutation_p.V941E|WNK3_ENST00000375169.3_Missense_Mutation_p.V941E	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	941					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACCATCAACCACATCCTTGTG	0.403000													29	118					0	0	0.030593	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417186	105417186	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:105417186C>T	ENST00000333244.5	-	7	4721	c.4602G>A	c.(4600-4602)ggG>ggA	p.G1534G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1534						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTGAGGTCCCCCTGCATGG	0.652000													28	267					0	0	0.014410	0	0
IK	3550	broad.mit.edu	37	5	140038606	140038606	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140038606G>T	ENST00000417647.2	+	12	1172	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	345	17 X 2 AA tandem repeats of R-[ED].				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tcgggaacgggagcgtgatcg	0.542000													12	58					1.61879e-10	2.43393e-10	0.013537	1	0
MTUS2	23281	broad.mit.edu	37	13	29608247	29608247	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr13:29608247A>T	ENST00000431530.3	+	2	2519	c.2461A>T	c.(2461-2463)Agt>Tgt	p.S821C		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	811	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					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						CAGTCTCTACAGTTCCGATCC	0.453000													10	42					0	0	0.006214	0	0
SYT7	9066	broad.mit.edu	37	11	61295600	61295600	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:61295600C>A	ENST00000263846.4	-	5	736	c.409G>T	c.(409-411)Ggc>Tgc	p.G137C	SYT7_ENST00000539008.1_Missense_Mutation_p.G420C|SYT7_ENST00000535826.1_Missense_Mutation_p.G256C|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Missense_Mutation_p.G181C|SYT7_ENST00000542670.1_Missense_Mutation_p.G345C|SYT7_ENST00000540677.1_Missense_Mutation_p.G212C	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	137	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGATCCGGCCCAGGTTCTCT	0.647000													24	66					6.36457e-07	8.26096e-07	0.021523	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725835	140725835	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140725835G>T	ENST00000253812.6	+	1	2235	c.2235G>T	c.(2233-2235)ggG>ggT	p.G745G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGACGGGGTTCGGGCTT	0.667000													16	127					3.41278e-10	5.09514e-10	0.033300	1	0
TARS	6897	broad.mit.edu	37	5	33462222	33462222	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:33462222G>A	ENST00000265112.3	+	16	2060	c.1749G>A	c.(1747-1749)aaG>aaA	p.K583K	TARS_ENST00000509410.1_3'UTR|TARS_ENST00000541634.1_Silent_p.K479K|TARS_ENST00000502553.1_Silent_p.K583K|TARS_ENST00000414361.2_Silent_p.K462K|TARS_ENST00000455217.2_Silent_p.K616K	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	583					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GTGATGATAAGAAAAGGCCAG	0.353000													20	104					0	0	0.010504	0	0
SDCBP2	27111	broad.mit.edu	37	20	1298980	1298980	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr20:1298980C>G	ENST00000360779.3	-	4	380	c.207G>C	c.(205-207)caG>caC	p.Q69H	SDCBP2_ENST00000381812.1_Missense_Mutation_p.Q69H|SDCBP2_ENST00000339987.3_Missense_Mutation_p.Q69H	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	69				Q -> H (in Ref. 2; CAC21716).	intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						CCTCTGGAATCTGAAGCAGGC	0.493000													10	40					0	0	0.013537	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527227	6527227	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:6527227C>A	ENST00000263125.5	-	10	1004	c.905G>T	c.(904-906)cGc>cTc	p.R302L	PRKCQ_ENST00000539722.1_Missense_Mutation_p.R177L|PRKCQ_ENST00000397176.2_Missense_Mutation_p.R302L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	302					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TCTTAAGCAGCGAGCCTGGAT	0.488000													20	89					8.00594e-06	9.66182e-06	0.007413	1	0
MGAT4B	11282	broad.mit.edu	37	5	179227513	179227513	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:179227513C>G	ENST00000337755.5	-	5	1621	c.735G>C	c.(733-735)gaG>gaC	p.E245D	MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Missense_Mutation_p.E230D	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	230					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCAAAGGACTCTCGGAGGC	0.602000													4	17					0	0	0.009096	0	0
NOX4	50507	broad.mit.edu	37	11	89166020	89166020	+	Silent	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:89166020A>G	ENST00000535633.1	-	7	718	c.408T>C	c.(406-408)ccT>ccC	p.P136P	NOX4_ENST00000525196.1_Silent_p.P160P|NOX4_ENST00000532825.1_Silent_p.P136P|NOX4_ENST00000263317.4_Silent_p.P160P|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000542487.1_Silent_p.P136P|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000528341.1_Silent_p.P135P|NOX4_ENST00000413594.2_Silent_p.P181P|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527956.1_Silent_p.P136P|NOX4_ENST00000424319.1_Silent_p.P136P|NOX4_ENST00000534731.1_Silent_p.P160P|NOX4_ENST00000343727.5_Silent_p.P136P	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	160	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTGTCAGGCCAGGAACTATAA	0.343000													4	16					0	0	0.009096	0	0
UCK2	7371	broad.mit.edu	37	1	165859550	165859550	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:165859550C>T	ENST00000367879.4	+	2	512	c.209C>T	c.(208-210)tCg>tTg	p.S70L	UCK2_ENST00000372212.4_Missense_Mutation_p.S70L	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	70					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GTCCTTACCTCGGAGCAGAAG	0.562000													13	71					0	0	0.013537	0	0
MYO16	23026	broad.mit.edu	37	13	109707814	109707814	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr13:109707814C>T	ENST00000356711.2	+	27	3266	c.3140C>T	c.(3139-3141)tCa>tTa	p.S1047L	MYO16_ENST00000457511.2_Missense_Mutation_p.S559L|MYO16_ENST00000357550.2_Missense_Mutation_p.S1047L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1047	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCAATAACTCAAAGCTGCCA	0.403000													15	53					0	0	0.020292	0	0
TPSD1	23430	broad.mit.edu	37	16	1308196	1308196	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:1308196G>T	ENST00000211076.3	+	4	805	c.657G>T	c.(655-657)gcG>gcT	p.A219A	TPSD1_ENST00000397534.2_Silent_p.A212A	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	219	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCTGTGTGCGGGGAGCGAAA	0.622000													12	29					5.50884e-06	6.67356e-06	0.013537	1	0
DUSP15	128853	broad.mit.edu	37	20	30450488	30450488	+	Silent	SNP	C	C	A	rs141277279		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr20:30450488C>A	ENST00000278979.3	-	6	388	c.312G>T	c.(310-312)acG>acT	p.T104T	DUSP15_ENST00000339738.5_Silent_p.T107T|DUSP15_ENST00000398083.1_Silent_p.T4T|DUSP15_ENST00000398084.2_Silent_p.T4T|DUSP15_ENST00000375966.4_Silent_p.T104T|DUSP15_ENST00000486996.1_Silent_p.T4T			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	104	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCCTAGCCCCGTCACAGTCA	0.577000													15	68					1.15088e-07	1.53773e-07	0.028581	1	0
TTN	7273	broad.mit.edu	37	2	179446892	179446892	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:179446892G>T	ENST00000589042.1	-	315	66428	c.66204C>A	c.(66202-66204)acC>acA	p.T22068T	TTN_ENST00000342992.6_Silent_p.T19500T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.T13003T|TTN_ENST00000342175.6_Silent_p.T13195T|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.T13128T|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.T20427T|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20427	Ig-like 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGATCTTTGGTTATGTTGC	0.433000													15	93					3.27435e-08	4.50755e-08	0.020292	1	0
GRID1	2894	broad.mit.edu	37	10	87484184	87484184	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:87484184C>A	ENST00000327946.7	-	11	1868	c.1783G>T	c.(1783-1785)Gcc>Tcc	p.A595S	GRID1_ENST00000536331.1_Missense_Mutation_p.A166S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	595						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGGGCTGGGCAGCACTCTGA	0.542000										Multiple Myeloma(13;0.14)			7	36					8.12818e-05	9.31446e-05	0.029380	1	0
CNGA3	1261	broad.mit.edu	37	2	99013028	99013028	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:99013028G>T	ENST00000393504.1	+	8	1812	c.1395G>T	c.(1393-1395)aaG>aaT	p.K465N	CNGA3_ENST00000409937.1_Missense_Mutation_p.K469N|CNGA3_ENST00000272602.2_Missense_Mutation_p.K465N|CNGA3_ENST00000436404.2_Missense_Mutation_p.K447N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	465					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACAAGCTGAAGGCTGAGATCG	0.577000													14	32					9.31168e-06	1.1174e-05	0.016723	1	0
PRPH2	5961	broad.mit.edu	37	6	42672193	42672193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:42672193C>T	ENST00000230381.5	-	2	977	c.738G>A	c.(736-738)tgG>tgA	p.W246*		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	246					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			AGCCACGCACCCACAGGTTGA	0.587000													4	41					0	0	0.009096	0	0
BMP8B	656	broad.mit.edu	37	1	40230563	40230563	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:40230563G>T	ENST00000397360.2	-	4	1154	c.791C>A	c.(790-792)cCg>cAg	p.P264Q	BMP8B_ENST00000372827.3_Intron			P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	242					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|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;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCTCTCTGCCGGGGCCTGGGC	0.657000													4	54					0.00116845	0.00128126	0.021553	1	0
PTPRM	5797	broad.mit.edu	37	18	7888243	7888243	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:7888243G>A	ENST00000332175.8	+	3	1373	c.336G>A	c.(334-336)ggG>ggA	p.G112G	PTPRM_ENST00000580170.1_Silent_p.G112G|PTPRM_ENST00000400060.4_Silent_p.G112G|PTPRM_ENST00000400053.4_Silent_p.G50G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	112	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTCCTCCGGGGTTACTCAATG	0.483000													21	83					0	0	0.008871	0	0
OR4D11	219986	broad.mit.edu	37	11	59271238	59271238	+	Missense_Mutation	SNP	C	C	T	rs114830141	byFrequency	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:59271238C>T	ENST00000313253.1	+	1	190	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	64					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						CTTCCTGCTCCGCAATCTAGC	0.488000													52	217					0	0	0.014410	0	0
MRPL16	54948	broad.mit.edu	37	11	59573868	59573868	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:59573868G>T	ENST00000300151.4	-	4	921	c.708C>A	c.(706-708)acC>acA	p.T236T		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	236							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						TCCCCTTGTGGGTCAAGTCAT	0.463000													44	178					3.4345e-17	6.18793e-17	0.011902	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105361085	105361085	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:105361085G>T	ENST00000297581.2	+	2	354	c.305G>T	c.(304-306)gGc>gTc	p.G102V	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.G102V|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	102					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											ATTGCAGCTGGCACAGGGATC	0.448000													13	56					2.68362e-12	4.32097e-12	0.013537	1	0
AASS	10157	broad.mit.edu	37	7	121726085	121726085	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:121726085C>A	ENST00000393376.1	-	18	2260	c.2165G>T	c.(2164-2166)cGg>cTg	p.R722L	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.R722L			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	722	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CAGTGTCCCCCGCAACAAAGT	0.378000													7	30					0.0293803	0.0304331	0.029380	1	0
E2F7	144455	broad.mit.edu	37	12	77421680	77421680	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:77421680C>A	ENST00000322886.7	-	11	2358	c.2123G>T	c.(2122-2124)tGt>tTt	p.C708F	E2F7_ENST00000416496.2_Missense_Mutation_p.C708F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	708					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AGACTGCACACAAAGATATTG	0.403000													13	38					0.000308642	0.000346813	0.024245	1	0
ZNF835	90485	broad.mit.edu	37	19	57175196	57175196	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:57175196G>A	ENST00000537055.2	-	2	1602	c.1371C>T	c.(1369-1371)aaC>aaT	p.N457N		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTAGGAGCGGTTGCTGAAGG	0.672000													37	110					0	0	0.015359	0	0
CDH19	28513	broad.mit.edu	37	18	64172450	64172450	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:64172450G>T	ENST00000262150.2	-	12	2210	c.1918C>A	c.(1918-1920)Caa>Aaa	p.Q640K	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	640					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCATCATATTGGAATATATTC	0.388000													22	187					1.55795e-14	2.64228e-14	0.012319	1	0
HOXA13	3209	broad.mit.edu	37	7	27238029	27238029	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:27238029A>T	ENST00000222753.4	-	2	983	c.955T>A	c.(955-957)Tat>Aat	p.Y319N		NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	319					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CCCCTCCTATAGGAGCTGGCA	0.517000			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	101					0	0	0.006122	0	0
PDILT	204474	broad.mit.edu	37	16	20370659	20370659	+	Silent	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:20370659T>C	ENST00000302451.4	-	12	1985	c.1737A>G	c.(1735-1737)aaA>aaG	p.K579K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	579					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTTCCTTGACTTTTGGTTTCT	0.443000													36	140					0	0	0.017118	0	0
CDX2	1045	broad.mit.edu	37	13	28542718	28542718	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr13:28542718G>T	ENST00000381020.7	-	1	2558	c.426C>A	c.(424-426)ccC>ccA	p.P142P		NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	142					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CAGGAGGGCCGGGGTTGAGCG	0.741000			T	ETV6	AML								6	6					5.9392e-07	7.7246e-07	0.021553	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	104993096	104993096	+	Splice_Site	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:104993096G>T	ENST00000372582.1	+	9	1948	c.1192_splice	c.e9+1	p.D398_splice	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Splice_Site_p.D398_splice	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	398					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACTAATGATGGTAAGCTGTC	0.363000													13	52					5.50884e-06	6.67356e-06	0.013537	1	0
HRNR	388697	broad.mit.edu	37	1	152191370	152191370	+	Missense_Mutation	SNP	C	C	A	rs146160152	byFrequency	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:152191370C>A	ENST00000368801.2	-	3	2810	c.2735G>T	c.(2734-2736)gGc>gTc	p.G912V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	912					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGACCGGAGCCAGACCCATG	0.642000													43	329					3.61848e-18	6.56893e-18	0.030466	1	0
NCKAP5	344148	broad.mit.edu	37	2	133541991	133541991	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:133541991T>C	ENST00000409261.1	-	14	2766	c.2393A>G	c.(2392-2394)cAa>cGa	p.Q798R	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q798R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	798							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGTCAGATTTTGCTTTTGATA	0.468000													37	161					0	0	0.019004	0	0
ACAN	176	broad.mit.edu	37	15	89401442	89401442	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:89401442G>A	ENST00000439576.2	+	12	6000	c.5626G>A	c.(5626-5628)Gga>Aga	p.G1876R	ACAN_ENST00000559004.1_Missense_Mutation_p.G1876R|ACAN_ENST00000352105.7_Missense_Mutation_p.G1876R|ACAN_ENST00000561243.1_Missense_Mutation_p.G1876R	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1876					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGATGTCAGTGGACAGTTTTC	0.507000													10	41					0	0	0.006214	0	0
CTNND2	1501	broad.mit.edu	37	5	11732360	11732360	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:11732360G>T	ENST00000304623.8	-	2	251	c.62C>A	c.(61-63)cCt>cAt	p.P21H	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.P21H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	21					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCTGATGAAGGCTGGTCTGG	0.507000													31	71					5.45727e-16	9.61447e-16	0.037714	1	0
DIAPH2	1730	broad.mit.edu	37	X	96369926	96369926	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:96369926G>T	ENST00000324765.8	+	21	2898	c.2551G>T	c.(2551-2553)Gcc>Tcc	p.A851S	DIAPH2_ENST00000373049.4_Missense_Mutation_p.A851S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.A847S|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A851S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.A851S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	851	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTCAAGAAATGCCCAGTCTTT	0.338000													3	38					0.004672	0.00499394	0.004672	1	0
PGK1	5230	broad.mit.edu	37	X	77380449	77380449	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:77380449C>A	ENST00000373316.4	+	9	1182	c.1015C>A	c.(1015-1017)Cct>Act	p.P339T	PGK1_ENST00000442431.1_Missense_Mutation_p.P203T|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000537456.1_Missense_Mutation_p.P311T	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	339					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GTGGAATGGTCCTGTGGGGGT	0.532000													13	157					0.00010058	0.000114639	0.013537	1	0
ABCA8	10351	broad.mit.edu	37	17	66924151	66924151	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:66924151G>T	ENST00000269080.2	-	9	1316	c.1179C>A	c.(1177-1179)gaC>gaA	p.D393E	ABCA8_ENST00000586539.1_Missense_Mutation_p.D393E|ABCA8_ENST00000430352.2_Missense_Mutation_p.D393E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	393						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GATTTGAGCCGTCCGATGGAT	0.338000													8	32					5.18039e-06	6.36048e-06	0.003080	1	0
NPAS2	4862	broad.mit.edu	37	2	101591311	101591311	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:101591311A>T	ENST00000335681.5	+	13	1472	c.1187A>T	c.(1186-1188)gAc>gTc	p.D396V	AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.D461V	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	396					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACACACTCGACGTGGGTGCC	0.527000													7	53					0	0	0.029380	0	0
GTF2E1	2960	broad.mit.edu	37	3	120489651	120489651	+	Silent	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:120489651A>G	ENST00000283875.5	+	3	618	c.525A>G	c.(523-525)acA>acG	p.T175T		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	175					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ATGCACGCACACTTTTGGCAA	0.428000													30	223					0	0	0.037714	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202318255	202318255	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:202318255G>T	ENST00000406302.3	+	1	429	c.276G>T	c.(274-276)ttG>ttT	p.L92F	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.L92F|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.L92F|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.L92F	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	92					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGGACGGCTTGACAGCCCTGC	0.572000													23	41					5.35356e-11	8.18477e-11	0.016522	1	0
EIF4A2	1974	broad.mit.edu	37	3	186503788	186503788	+	Silent	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:186503788T>C	ENST00000323963.5	+	5	529	c.465T>C	c.(463-465)atT>atC	p.I155I	EIF4A2_ENST00000356531.5_Silent_p.I60I|EIF4A2_ENST00000440191.2_Silent_p.I156I			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	155	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CACCACATATTGTTGTTGGTA	0.383000			T	BCL6	NHL								6	49					0	0	0.021553	0	0
CFHR2	3080	broad.mit.edu	37	1	196927062	196927062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:196927062G>T	ENST00000367415.4	+	4	586	c.472G>T	c.(472-474)Gga>Tga	p.G158*	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.G158*	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	158	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TATTGACAATGGAGACATTAC	0.373000													13	91					4.36969e-10	6.44808e-10	0.016723	1	0
PCLO	27445	broad.mit.edu	37	7	82545660	82545660	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:82545660G>C	ENST00000423517.2	-	7	11979	c.11642C>G	c.(11641-11643)cCg>cGg	p.P3881R	PCLO_ENST00000333891.8_Missense_Mutation_p.P3881R|PCLO_ENST00000437081.1_Missense_Mutation_p.P601R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3812	Gln-rich.				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						AGGACTTGTCGGAGGAACTAG	0.463000													61	386					0	0	0.014410	0	0
ATG9B	285973	broad.mit.edu	37	7	150715032	150715032	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:150715032T>C	ENST00000605938.1	-	8	2053	c.1978A>G	c.(1978-1980)Act>Gct	p.T660A	ATG9B_ENST00000444312.1_Missense_Mutation_p.T146A|ATG9B_ENST00000377974.2_Missense_Mutation_p.T660A|ATG9B_ENST00000494791.1_5'UTR	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	660					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACATCCACAGTGAAGTGATGA	0.592000											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	0.009096	0	0
COL11A1	1301	broad.mit.edu	37	1	103440407	103440407	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:103440407G>T	ENST00000358392.2	-	36	3140	c.2823C>A	c.(2821-2823)ttC>ttA	p.F941L	COL11A1_ENST00000512756.1_Missense_Mutation_p.F813L|COL11A1_ENST00000370096.3_Missense_Mutation_p.F929L|COL11A1_ENST00000353414.4_Missense_Mutation_p.F890L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	929	Triple-helical region.			KDGL -> RMGC (in Ref. 1; AAA51891).	collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGTCCAGGGAATCCAACTG	0.398000													4	51					0.014758	0.0154123	0.014758	1	0
SORBS2	8470	broad.mit.edu	37	4	186544881	186544881	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:186544881G>A	ENST00000431808.1	-	14	2253	c.1690C>T	c.(1690-1692)Ccc>Tcc	p.P564S	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P564S|SORBS2_ENST00000418609.1_Missense_Mutation_p.P468S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P664S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	564						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CCCCGAGCGGGGGGGCCGCTT	0.582000													11	68					0	0	0.008291	0	0
IGSF9B	22997	broad.mit.edu	37	11	133799663	133799663	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:133799663C>A	ENST00000321016.8	-	12	1764	c.1534G>T	c.(1534-1536)Gcc>Tcc	p.A512S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.A512S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	512	Fibronectin type-III 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGCCCGGGGCATGGGGGCTG	0.592000													14	49					3.27435e-08	4.50755e-08	0.020292	1	0
TPPP	11076	broad.mit.edu	37	5	678034	678034	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:678034G>A	ENST00000360578.5	-	2	263	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	48	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		AGGGCACTGAGCTCAGGGGAT	0.697000													8	62					0	0	0.004482	0	0
TNNI3	7137	broad.mit.edu	37	19	55665459	55665459	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:55665459G>T	ENST00000344887.5	-	7	630	c.488C>A	c.(487-489)gCt>gAt	p.A163D	TNNI3_ENST00000588882.1_Missense_Mutation_p.A138D	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	163					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGACTCCTTAGCCCGGGCCCC	0.607000													16	73					3.32936e-07	4.37494e-07	0.006122	1	0
NRXN1	9378	broad.mit.edu	37	2	50723093	50723093	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:50723093G>A	ENST00000404971.1	-	16	4479	c.3140C>T	c.(3139-3141)aCa>aTa	p.T1047I	NRXN1_ENST00000401710.1_Missense_Mutation_p.T16I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.T1007I|NRXN1_ENST00000401669.2_Missense_Mutation_p.T1007I|NRXN1_ENST00000405472.3_Missense_Mutation_p.T999I|NRXN1_ENST00000406316.2_Missense_Mutation_p.T1007I|NRXN1_ENST00000402717.3_Missense_Mutation_p.T999I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1007	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGTGATTTTTGTGTCAATCTT	0.473000													7	36					0	0	0.029380	0	0
CACNA1G	8913	broad.mit.edu	37	17	48692748	48692748	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:48692748G>T	ENST00000352832.5	+	25	5056	c.4684G>T	c.(4684-4686)Gac>Tac	p.D1562Y	CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1578Y|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1573Y|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1585Y|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1596Y|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1596Y|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1596Y|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1544Y|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1562Y|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1596Y|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1562Y|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1551Y|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1585Y|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1539Y|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1573Y|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1603Y|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1562Y|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1585Y|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1551Y|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1578Y|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1555Y|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1596Y|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1562Y|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1578Y|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1585Y	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1596					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTACTACTCCGACTACTCCCG	0.632000													9	51					0.000274275	0.000308742	0.004482	1	0
MSH3	4437	broad.mit.edu	37	5	80109418	80109418	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:80109418G>T	ENST00000265081.6	+	20	2751	c.2671G>T	c.(2671-2673)Gta>Tta	p.V891L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	891					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CTCAGAGAGAGTAATGATAAT	0.368000								Mismatch excision repair (MMR)					10	56					2.74318e-10	4.10509e-10	0.006214	1	0
AIRE	326	broad.mit.edu	37	21	45711088	45711088	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr21:45711088C>A	ENST00000291582.5	+	8	1117	c.990C>A	c.(988-990)atC>atA	p.I330I	AIRE_ENST00000329347.4_Silent_p.I123I|AIRE_ENST00000355347.4_Silent_p.I123I	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	330					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TCCGGGAGATCCCCAGGTGAG	0.701000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				10	24					0.00621372	0.00660857	0.006214	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18809454	18809454	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:18809454G>T	ENST00000400664.1	+	1	2031	c.1979G>T	c.(1978-1980)gGc>gTc	p.G660V		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	660						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGGGCCGGCCCCACCGGG	0.677000													8	46					1.06961e-07	1.44739e-07	0.003080	1	0
DST	667	broad.mit.edu	37	6	56471763	56471763	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:56471763C>A	ENST00000370754.5	-	39	7563	c.7564G>T	c.(7564-7566)Gaa>Taa	p.E2522*	DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Nonsense_Mutation_p.E2018*|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Nonsense_Mutation_p.E2344*|DST_ENST00000361203.3_Nonsense_Mutation_p.E2344*|DST_ENST00000312431.6_Nonsense_Mutation_p.E2344*			Q03001	DYST_HUMAN	dystonin	2344					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)			GAATACTCTTCTATTTCAGAC	0.408000													17	86					3.52763e-06	4.35645e-06	0.033300	1	0
TESPA1	9840	broad.mit.edu	37	12	55356595	55356595	+	Missense_Mutation	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:55356595A>G	ENST00000524622.1	-	7	1334	c.673T>C	c.(673-675)Tgc>Cgc	p.C225R	TESPA1_ENST00000316577.8_Missense_Mutation_p.C363R|TESPA1_ENST00000531122.1_Missense_Mutation_p.C225R|TESPA1_ENST00000532804.1_Missense_Mutation_p.C225R|TESPA1_ENST00000449076.1_Missense_Mutation_p.C363R	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	363																	TCTTCACAGCAGAAGACACAT	0.527000													13	40					0	0	0.016723	0	0
VNN2	8875	broad.mit.edu	37	6	133072284	133072284	+	Splice_Site	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:133072284C>A	ENST00000326499.6	-	5	1324	c.1200_splice	c.e5+1	p.Q400_splice	VNN2_ENST00000525270.1_Splice_Site_p.Q347_splice|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	400					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTGAAATTACCTGCCAGTACT	0.373000													14	74					1.49906e-05	1.77212e-05	0.020292	1	0
MARK1	4139	broad.mit.edu	37	1	220792037	220792037	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:220792037C>G	ENST00000402574.1	+	9	1446	c.444C>G	c.(442-444)gaC>gaG	p.D148E	MARK1_ENST00000366918.4_Missense_Mutation_p.D261E|MARK1_ENST00000366917.4_Missense_Mutation_p.D283E	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	283	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGTCCACAGACTGTGAAAATC	0.338000													5	53					0	0	0.014758	0	0
FZD10	11211	broad.mit.edu	37	12	130648510	130648510	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:130648510G>A	ENST00000539839.1	+	1	1507	c.925G>A	c.(925-927)Gtg>Atg	p.V309M	FZD10_ENST00000229030.4_Silent_p.K341K	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGGCAAGAAGTGGGGCCACG	0.647000													8	38					0	0	0.003080	0	0
C5orf42	65250	broad.mit.edu	37	5	37169412	37169412	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:37169412G>A	ENST00000274258.7	-	34	6941	c.3354C>T	c.(3352-3354)ccC>ccT	p.P1118P	C5orf42_ENST00000508244.1_Silent_p.P2238P|C5orf42_ENST00000425232.2_Silent_p.P2238P			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2238										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTAAGAAAAGGGGCTGGAATT	0.443000													13	136					0	0	0.020292	0	0
SYT9	143425	broad.mit.edu	37	11	7324419	7324419	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:7324419C>T	ENST00000318881.6	+	2	532	c.295C>T	c.(295-297)Ctt>Ttt	p.L99F	SYT9_ENST00000396716.2_Missense_Mutation_p.L67F	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	99						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.L99F(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CCAGGAGCCCCTTAACTACAT	0.547000													32	110					0	0	0.012213	0	0
PAK6	56924	broad.mit.edu	37	15	40564615	40564615	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:40564615G>A	ENST00000455577.2	+	6	1961	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E	PAK6_ENST00000560346.1_Missense_Mutation_p.G350E|PAK6_ENST00000542403.2_Missense_Mutation_p.G350E|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.G350E|PAK6_ENST00000260404.4_Missense_Mutation_p.G350E|PAK6_ENST00000453867.1_Missense_Mutation_p.G350E	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	350	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TCCCCAGCGGGATCCCCCCGC	0.677000													11	49					0	0	0.008291	0	0
WNT7A	7476	broad.mit.edu	37	3	13896107	13896107	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:13896107C>A	ENST00000285018.4	-	3	796	c.492G>T	c.(490-492)aaG>aaT	p.K164N		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	164					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CCACAAAGACCTTGGCGAAGC	0.612000													15	184					3.27435e-08	4.50755e-08	0.020292	1	0
CSMD3	114788	broad.mit.edu	37	8	113697783	113697783	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:113697783T>A	ENST00000297405.5	-	15	2578	c.2334A>T	c.(2332-2334)aaA>aaT	p.K778N	CSMD3_ENST00000455883.2_Missense_Mutation_p.K674N|CSMD3_ENST00000352409.3_Missense_Mutation_p.K778N|CSMD3_ENST00000343508.3_Missense_Mutation_p.K738N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	778	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTCACCATCTTTAACAGCAA	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	71					0	0	0.010504	0	0
USH1C	10083	broad.mit.edu	37	11	17531216	17531216	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:17531216G>A	ENST00000005226.7	-	18	1699	c.1700C>T	c.(1699-1701)cCt>cTt	p.P567L	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGAGGGTGGAGGGTGGGGCAT	0.627000													6	24					0	0	0.021553	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41687110	41687110	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:41687110T>C	ENST00000260361.4	-	3	1087	c.706A>G	c.(706-708)Atg>Gtg	p.M236V		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	236					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TAACTATACATCTGATTCGTC	0.473000													12	51					0	0	0.010729	0	0
LILRB1	10859	broad.mit.edu	37	19	55148268	55148268	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:55148268C>A	ENST00000396331.1	+	16	2249	c.1892C>A	c.(1891-1893)cCa>cAa	p.P631Q	LILRB1_ENST00000427581.2_Missense_Mutation_p.P682Q|LILRB1_ENST00000324602.7_Missense_Mutation_p.P633Q|LILRB1_ENST00000434867.2_Missense_Mutation_p.P631Q|LILRB1_ENST00000396327.3_Missense_Mutation_p.P632Q|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.P632Q|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396321.2_Missense_Mutation_p.P631Q|LILRB1_ENST00000396317.1_Missense_Mutation_p.P615Q|LILRB1_ENST00000418536.2_Missense_Mutation_p.P615Q|LILRB1_ENST00000396315.1_Missense_Mutation_p.P633Q|LILRB1_ENST00000448689.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	631					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GAGCCTCCTCCATCCCAGGAA	0.652000										HNSCC(37;0.09)			18	65					8.10497e-08	1.10145e-07	0.010504	1	0
RTTN	25914	broad.mit.edu	37	18	67812965	67812965	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:67812965C>A	ENST00000255674.6	-	18	2650	c.2364G>T	c.(2362-2364)ggG>ggT	p.G788G	RTTN_ENST00000454359.1_Silent_p.G788G|RTTN_ENST00000437017.1_Silent_p.G788G	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	788							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTGTATCAGCCCCTTCTTCAC	0.418000													9	91					0.000274275	0.000308742	0.004482	1	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													3	45					0	0	0.009096	0	0
PTPRD	5789	broad.mit.edu	37	9	8492961	8492961	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr9:8492961G>T	ENST00000381196.4	-	24	2911	c.2368C>A	c.(2368-2370)Ctc>Atc	p.L790I	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000360074.4_Missense_Mutation_p.L777I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L768I|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L790I|PTPRD_ENST00000356435.5_Missense_Mutation_p.L790I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	790	Fibronectin type-III 5.				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)		TCAGGCTGGAGCCCAGAAATG	0.498000										TSP Lung(15;0.13)			22	87					1.87028e-06	2.36481e-06	0.012319	1	0
POLA2	23649	broad.mit.edu	37	11	65043444	65043444	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:65043444C>T	ENST00000265465.3	+	5	967	c.436C>T	c.(436-438)Ctc>Ttc	p.L146F	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	146	Pro/Ser/Thr-rich.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CCATCAGCTACTCTCACCGTC	0.483000													10	76					0	0	0.013537	0	0
C3orf20	84077	broad.mit.edu	37	3	14798940	14798940	+	Missense_Mutation	SNP	T	T	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:14798940T>G	ENST00000253697.3	+	13	2455	c.2003T>G	c.(2002-2004)cTg>cGg	p.L668R	C3orf20_ENST00000435614.1_Missense_Mutation_p.L546R|C3orf20_ENST00000412910.1_Missense_Mutation_p.L546R	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	668						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GACTGCCCGCTGGTGCTGCGG	0.672000													13	46					0	0	0.013537	0	0
ZNF799	90576	broad.mit.edu	37	19	12501876	12501876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:12501876C>A	ENST00000419318.1	-	4	1989	c.1240G>T	c.(1240-1242)Gag>Tag	p.E414*	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Nonsense_Mutation_p.E446*			Q96GE5	ZN799_HUMAN	zinc finger protein 799	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TAGGGTTTCTCTCCAGTATGA	0.383000													21	83					2.4624e-09	3.56739e-09	0.008871	1	0
SULT1A1	6817	broad.mit.edu	37	16	28620185	28620185	+	Translation_Start_Site	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:28620185G>A	ENST00000569554.1	-	0	56				SULT1A1_ENST00000395607.1_Intron|SULT1A1_ENST00000395609.1_Intron|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000314752.7_Intron			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						ATGTTCCTGCGTCAGGGGCCA	0.597000													6	140					0	0	0.029380	0	0
TACC3	10460	broad.mit.edu	37	4	1733028	1733028	+	Splice_Site	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:1733028G>A	ENST00000313288.4	+	6	1697	c.1591_splice	c.e6+1	p.V531_splice		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	531						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CCCCGCTGAGGGTACGTTGCC	0.622000													16	56					0	0	0.033300	0	0
C18orf8	29919	broad.mit.edu	37	18	21110037	21110037	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:21110037C>G	ENST00000269221.3	+	17	1650	c.1540C>G	c.(1540-1542)Ctc>Gtc	p.L514V	C18orf8_ENST00000590868.1_Missense_Mutation_p.L466V|C18orf8_ENST00000591367.1_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	514	Mic1.									endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCAGCACAACCTCTTTTATAT	0.398000													66	341					0	0	0.014410	0	0
APOOL	139322	broad.mit.edu	37	X	84342616	84342616	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:84342616G>T	ENST00000373173.2	+	9	826	c.739G>T	c.(739-741)Gac>Tac	p.D247Y		NM_198450.5	NP_940852.3	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like	247						extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTTTATGCCTGACCCCAAGCT	0.403000													3	8					0.004672	0.00499394	0.004672	1	0
NIN	51199	broad.mit.edu	37	14	51239122	51239122	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:51239122C>A	ENST00000245441.5	-	9	1068	c.878G>T	c.(877-879)cGg>cTg	p.R293L	NIN_ENST00000382041.3_Missense_Mutation_p.R293L|NIN_ENST00000453196.1_Missense_Mutation_p.R293L|NIN_ENST00000389868.3_Missense_Mutation_p.R293L|NIN_ENST00000324330.9_Missense_Mutation_p.R293L|NIN_ENST00000382043.4_Missense_Mutation_p.R293L|NIN_ENST00000530997.2_Missense_Mutation_p.R293L	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	293					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GGAGAAGACCCGAAAGCCAAT	0.522000			T	PDGFRB	MPD								12	47					6.40141e-05	7.40236e-05	0.010729	1	0
RELN	5649	broad.mit.edu	37	7	103151413	103151413	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:103151413T>A	ENST00000428762.1	-	51	8318	c.8159A>T	c.(8158-8160)gAa>gTa	p.E2720V	RELN_ENST00000343529.5_Missense_Mutation_p.E2720V|RELN_ENST00000424685.2_Missense_Mutation_p.E2720V|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2720					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAGAATCTTTCTACTGTACA	0.413000													7	18					0	0	0.003080	0	0
ASPM	259266	broad.mit.edu	37	1	197065239	197065239	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:197065239C>A	ENST00000367409.4	-	19	9132	c.8876G>T	c.(8875-8877)tGc>tTc	p.C2959F	ASPM_ENST00000294732.7_Missense_Mutation_p.C1374F|ASPM_ENST00000367408.1_Missense_Mutation_p.C624F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2959	IQ 34.|IQ 35.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGAATCTTGCAGGCAGCTTT	0.328000													69	168					2.23399e-28	4.25395e-28	0.014410	1	0
GAS2	2620	broad.mit.edu	37	11	22707280	22707280	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:22707280C>T	ENST00000454584.2	+	3	517	c.212C>T	c.(211-213)gCa>gTa	p.A71V	GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000433790.1_Missense_Mutation_p.A71V|GAS2_ENST00000278187.3_Missense_Mutation_p.A71V	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	71	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TGTCAACTTGCAGAAACTATG	0.388000													10	51					0	0	0.016723	0	0
MS4A13	503497	broad.mit.edu	37	11	60310044	60310044	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:60310044C>T	ENST00000378186.2	+	7	778	c.455C>T	c.(454-456)cCt>cTt	p.P152L	MS4A13_ENST00000437058.2_Missense_Mutation_p.P93L|MS4A13_ENST00000378185.2_Missense_Mutation_p.P112L|MS4A13_ENST00000527948.1_Missense_Mutation_p.P61L	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	152						integral to membrane				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						GAGAGCACTCCTTAAAAACCC	0.358000													3	8					0	0	0.004672	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820687	35820687	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:35820687T>A	ENST00000399989.1	+	2	653	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	MAGEB16_ENST00000399985.1_Missense_Mutation_p.L125Q|MAGEB16_ENST00000399987.1_Missense_Mutation_p.L125Q|MAGEB16_ENST00000399988.1_Missense_Mutation_p.L125Q|MAGEB16_ENST00000399992.1_Missense_Mutation_p.L157Q	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	125	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AATTTCATGCTGCACAAGTGT	0.453000													11	47					0	0	0.010729	0	0
FCHO1	23149	broad.mit.edu	37	19	17892528	17892528	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:17892528C>A	ENST00000594202.1	+	23	2115	c.1836C>A	c.(1834-1836)tcC>tcA	p.S612S	FCHO1_ENST00000596536.1_Silent_p.S612S|FCHO1_ENST00000596951.1_Silent_p.S612S|FCHO1_ENST00000597512.1_Silent_p.S619S|FCHO1_ENST00000600676.1_Silent_p.S612S|FCHO1_ENST00000389133.4_Silent_p.S612S|FCHO1_ENST00000252771.7_Silent_p.S612S|FCHO1_ENST00000539407.1_Silent_p.S612S|FCHO1_ENST00000595033.1_Silent_p.S562S	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	612										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGGAGTCTCCCGGGGTCCGA	0.627000													31	129					4.4194e-11	6.85546e-11	0.013726	1	0
SH3BP5L	80851	broad.mit.edu	37	1	249106196	249106196	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:249106196C>A	ENST00000366472.5	-	7	2314	c.1085G>T	c.(1084-1086)aGt>aTt	p.S362I	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.S330I|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	362										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCCGTCCAGACTGACGTGGTC	0.692000													9	23					1.76689e-08	2.46435e-08	0.006214	1	0
LAMA4	3910	broad.mit.edu	37	6	112457342	112457342	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:112457342C>G	ENST00000230538.7	-	25	3794	c.3397G>C	c.(3397-3399)Gat>Cat	p.D1133H	LAMA4_ENST00000424408.2_Missense_Mutation_p.D1126H|LAMA4_ENST00000389463.4_Missense_Mutation_p.D1126H|LAMA4_ENST00000522006.1_Missense_Mutation_p.D1126H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1133	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TATTTTGCATCATTAATTTGA	0.368000													6	26					0	0	0.029380	0	0
TLL1	7092	broad.mit.edu	37	4	167012334	167012334	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:167012334G>C	ENST00000061240.2	+	19	3144	c.2497G>C	c.(2497-2499)Gaa>Caa	p.E833Q	TLL1_ENST00000507499.1_Missense_Mutation_p.E856Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	833	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGACCACTTAGAAGTATTTGA	0.343000													7	40					0	0	0.004482	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278466	130278466	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:130278466G>T	ENST00000257359.6	-	8	2698	c.1992C>A	c.(1990-1992)gcC>gcA	p.A664A		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	664	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGTCACAGCCGGCCTTGACAC	0.627000													18	117					6.94344e-10	1.01752e-09	0.006122	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647406	33647406	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:33647406T>C	ENST00000558425.1	-	2	193	c.194A>G	c.(193-195)gAg>gGg	p.E65G																								TGAAATCCACTCCAGTCCCTT	0.542000													61	377					0	0	0.014410	0	0
TG	7038	broad.mit.edu	37	8	133935738	133935738	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:133935738G>T	ENST00000220616.4	+	22	4724	c.4684G>T	c.(4684-4686)Gac>Tac	p.D1562Y	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1562	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCTCTTGAGGACTCACAGTG	0.582000													13	42					4.36969e-10	6.44808e-10	0.016723	1	0
GABRG2	2566	broad.mit.edu	37	5	161580240	161580240	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:161580240T>A	ENST00000356592.3	+	10	1754	c.1294T>A	c.(1294-1296)Tgt>Agt	p.C432S	GABRG2_ENST00000361925.4_Missense_Mutation_p.C424S|GABRG2_ENST00000414552.2_Missense_Mutation_p.C472S|GABRG2_ENST00000393933.4_Missense_Mutation_p.C329S	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	424	Interaction with GABARAP (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TTTTGAAGATTGTCGAACAGG	0.463000													19	121					0	0	0.006122	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656493	40656493	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:40656493G>T	ENST00000406785.1	-	2	1117	c.928C>A	c.(928-930)Ctg>Atg	p.L310M	SLC8A1_ENST00000542756.1_Missense_Mutation_p.L310M|SLC8A1_ENST00000542024.1_Missense_Mutation_p.L310M|SLC8A1_ENST00000405269.1_Missense_Mutation_p.L310M|SLC8A1_ENST00000408028.2_Missense_Mutation_p.L310M|SLC8A1_ENST00000406391.2_Missense_Mutation_p.L310M|SLC8A1_ENST00000405901.3_Missense_Mutation_p.L310M|SLC8A1_ENST00000403092.1_Missense_Mutation_p.L310M|SLC8A1_ENST00000402441.1_Missense_Mutation_p.L310M|SLC8A1_ENST00000332839.4_Missense_Mutation_p.L310M			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	310					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCCACCTCCAGAACCAGAGCA	0.423000													28	160					2.08973e-25	3.94382e-25	0.027356	1	0
PCDH1	5097	broad.mit.edu	37	5	141243248	141243248	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:141243248T>C	ENST00000287008.3	-	3	2795	c.2648A>G	c.(2647-2649)aAa>aGa	p.K883R	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.K871R|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.K861R|PCDH1_ENST00000394536.3_Missense_Mutation_p.K883R	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	883					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTAACCACTTTTGGCCTCCCG	0.582000													58	244					0	0	0.014410	0	0
GRM8	2918	broad.mit.edu	37	7	126086184	126086184	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:126086184G>T	ENST00000339582.2	-	10	3481	c.2673C>A	c.(2671-2673)acC>acA	p.T891T	GRM8_ENST00000358373.3_Silent_p.T891T|GRM8_ENST00000444921.2_Silent_p.T891T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	891					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACTTACTGTTGGTTTCAAGAC	0.453000										HNSCC(24;0.065)			30	151					5.90632e-09	8.46041e-09	0.012213	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55024500	55024500	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:55024500A>T	ENST00000324000.3	+	3	2693	c.659A>T	c.(658-660)aAc>aTc	p.N220I		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	220					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AAATATTACAACAATCTCTTG	0.423000													12	55					0	0	0.010729	0	0
MLC1	23209	broad.mit.edu	37	22	50518354	50518354	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr22:50518354G>C	ENST00000311597.5	-	5	1022	c.416C>G	c.(415-417)gCa>gGa	p.A139G	MLC1_ENST00000450140.2_Intron|MLC1_ENST00000395876.2_Missense_Mutation_p.A139G|MLC1_ENST00000538737.1_Intron|MLC1_ENST00000535444.1_Missense_Mutation_p.A60G|MLC1_ENST00000431262.2_Missense_Mutation_p.A109G	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	139						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CACGTTTATTGCTGATGGGTT	0.463000													18	63					0	0	0.008871	0	0
NOL4	8715	broad.mit.edu	37	18	31538265	31538265	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:31538265C>G	ENST00000261592.5	-	7	1471	c.1174G>C	c.(1174-1176)Gac>Cac	p.D392H	NOL4_ENST00000538587.1_Missense_Mutation_p.D318H|NOL4_ENST00000535475.1_Missense_Mutation_p.D237H|NOL4_ENST00000589544.1_Missense_Mutation_p.D392H|NOL4_ENST00000535384.1_Missense_Mutation_p.D107H|NOL4_ENST00000269185.4_Missense_Mutation_p.D278H	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	392						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCCGAATCGTCATGGTCCTCG	0.488000													31	172					0	0	0.012213	0	0
TOX2	84969	broad.mit.edu	37	20	42680134	42680134	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr20:42680134C>A	ENST00000358131.5	+	4	835	c.627C>A	c.(625-627)acC>acA	p.T209T	TOX2_ENST00000423191.1_Silent_p.T158T|TOX2_ENST00000341197.3_Silent_p.T200T|TOX2_ENST00000435864.2_Silent_p.T78T|TOX2_ENST00000372999.1_Silent_p.T158T	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGTCAGCGACCCCCTCTCCCT	0.627000													8	24					0.00448238	0.00484006	0.004482	1	0
COL15A1	1306	broad.mit.edu	37	9	101810113	101810113	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr9:101810113G>T	ENST00000375001.3	+	27	3148	c.2725G>T	c.(2725-2727)Ggg>Tgg	p.G909W		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	909	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGGCCTTCCCGGGCGACCTGT	0.542000													66	123					1.92745e-42	3.7488e-42	0.014410	1	0
MED12	9968	broad.mit.edu	37	X	70349190	70349190	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:70349190C>A	ENST00000333646.6	+	26	3801	c.3602C>A	c.(3601-3603)tCc>tAc	p.S1201Y	MED12_ENST00000374080.3_Missense_Mutation_p.S1201Y|MED12_ENST00000374102.1_Missense_Mutation_p.S1201Y	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1201					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATCCGCTCCTCCTGCGAC	0.567000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	63					0.014758	0.0154123	0.014758	1	0
MCM5	4174	broad.mit.edu	37	22	35809931	35809931	+	Silent	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr22:35809931A>T	ENST00000216122.4	+	9	1309	c.1155A>T	c.(1153-1155)acA>acT	p.T385T	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Silent_p.T342T	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	385	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.T385T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACCCTGGGACAGCCAAGTCCC	0.577000													9	52					0	0	0.006214	0	0
C11orf87	399947	broad.mit.edu	37	11	109294692	109294692	+	Silent	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:109294692T>A	ENST00000327419.6	+	2	736	c.333T>A	c.(331-333)ggT>ggA	p.G111G	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	111						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCAGCCGCGGTGGCGGGGGGC	0.657000													17	76					0	0	0.014323	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231575	142231575	+	RNA	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:142231575C>A	ENST00000390364.3	-	0	409																											GCACTGTGGACTCACTGCTGG	0.547000													19	95					6.49762e-13	1.05961e-12	0.006122	1	0
SLC35F3	148641	broad.mit.edu	37	1	234367270	234367270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:234367270C>T	ENST00000366618.3	+	3	536	c.391C>T	c.(391-393)Caa>Taa	p.Q131*	SLC35F3_ENST00000366617.3_Nonsense_Mutation_p.Q62*	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	62					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CTCCCGGGCGCAACTCAAGAA	0.731000													15	110					0	0	0.033300	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735603	55735603	+	Missense_Mutation	SNP	G	G	C	rs150679428		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:55735603G>C	ENST00000312345.2	-	1	387	c.337C>G	c.(337-339)Cgc>Ggc	p.R113G		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R113C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GCCACGTAGCGGTCATAGGCC	0.428000													13	47					0	0	0.013537	0	0
KCNU1	157855	broad.mit.edu	37	8	36698038	36698038	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:36698038C>T	ENST00000399881.3	+	15	1613	c.1576C>T	c.(1576-1578)Ctg>Ttg	p.L526L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	526						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAACAAAATTCTGACCCAACG	0.413000													5	18					0	0	0.014758	0	0
C3orf30	152405	broad.mit.edu	37	3	118865732	118865732	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:118865732C>A	ENST00000295622.1	+	1	736	c.696C>A	c.(694-696)gtC>gtA	p.V232V		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	232										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GGTCATCCGTCCCATCTGACC	0.488000													16	85					4.14922e-12	6.63041e-12	0.028581	1	0
NID2	22795	broad.mit.edu	37	14	52481130	52481130	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:52481130G>T	ENST00000216286.5	-	16	3294	c.3295C>A	c.(3295-3297)Cca>Aca	p.P1099T	NID2_ENST00000541773.1_Missense_Mutation_p.P998T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1099						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GTCACATCTGGCCGGGGCGTG	0.622000											OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	45					2.23348e-06	2.78529e-06	0.028581	1	0
LEFTY2	7044	broad.mit.edu	37	1	226125399	226125399	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:226125399C>G	ENST00000366820.5	-	4	1191	c.843G>C	c.(841-843)tgG>tgC	p.W281C	LEFTY2_ENST00000420304.2_Missense_Mutation_p.W247C	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	281					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCTCCAGCACCCAGTTCTTGG	0.652000													14	26					0	0	0.016723	0	0
KCNA5	3741	broad.mit.edu	37	12	5154561	5154561	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:5154561C>T	ENST00000252321.3	+	1	1477	c.1248C>T	c.(1246-1248)caC>caT	p.H416H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	416						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						TCTCCCGCCACTCCAAGGGGC	0.627000													6	31					0	0	0.029380	0	0
OR4D6	219983	broad.mit.edu	37	11	59225093	59225093	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:59225093C>T	ENST00000300127.2	+	1	683	c.660C>T	c.(658-660)gtC>gtT	p.V220V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCTACACTGTCATTCTGGTGA	0.567000													18	93					0	0	0.006122	0	0
PLXNC1	10154	broad.mit.edu	37	12	94694764	94694764	+	Silent	SNP	C	C	T	rs113780946	by1000genomes	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:94694764C>T	ENST00000258526.4	+	28	4566	c.4317C>T	c.(4315-4317)gaC>gaT	p.D1439D	PLXNC1_ENST00000545312.1_Silent_p.D178D|PLXNC1_ENST00000547057.1_Silent_p.D486D	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1439					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACATATAGACGGCTGTTTGT	0.443000													16	56					0	0	0.028581	0	0
HERC4	26091	broad.mit.edu	37	10	69700789	69700789	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:69700789A>T	ENST00000395198.3	-	21	2682	c.2435T>A	c.(2434-2436)gTg>gAg	p.V812E	HERC4_ENST00000277817.6_Missense_Mutation_p.V702E|HERC4_ENST00000412272.2_Intron|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.V804E	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	812	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ATGGAGGTCCACAATGGTACA	0.333000													19	70					0	0	0.010504	0	0
FAM159A	348378	broad.mit.edu	37	1	53122519	53122519	+	Missense_Mutation	SNP	T	T	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:53122519T>G	ENST00000517870.1	+	3	530	c.380T>G	c.(379-381)gTg>gGg	p.V127G	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	127						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						GCGGCAGAAGTGCCAAAAGTG	0.567000													24	109					0	0	0.014323	0	0
UGT2B4	7363	broad.mit.edu	37	4	70360873	70360873	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:70360873T>A	ENST00000305107.6	-	1	753	c.707A>T	c.(706-708)tAc>tTc	p.Y236F	UGT2B4_ENST00000512583.1_Missense_Mutation_p.Y236F|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.Y100F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	236					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AACTTCACTGTAGAACTGATC	0.333000													11	54					0	0	0.016723	0	0
THNSL2	55258	broad.mit.edu	37	2	88474273	88474273	+	Missense_Mutation	SNP	G	G	T	rs149024211		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:88474273G>T	ENST00000324166.5	+	2	2030	c.339G>T	c.(337-339)aaG>aaT	p.K113N	THNSL2_ENST00000377254.3_Missense_Mutation_p.K113N|THNSL2_ENST00000343544.4_Missense_Mutation_p.K113N|THNSL2_ENST00000402102.1_Missense_Mutation_p.K113N|THNSL2_ENST00000358591.2_Missense_Mutation_p.K113N|THNSL2_ENST00000449349.1_Missense_Mutation_p.K81N	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	113					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						ATGCATTTAAGGACCTGTCCC	0.522000													21	80					4.35082e-09	6.24632e-09	0.010504	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906009	164906009	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:164906009C>A	ENST00000475390.1	-	2	3053	c.2610G>T	c.(2608-2610)gtG>gtT	p.V870V	SLITRK3_ENST00000241274.3_Silent_p.V870V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	870						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						GAGGAAACAGCACCACCCCAC	0.587000										HNSCC(40;0.11)			21	120					7.45023e-12	1.18163e-11	0.010504	1	0
BMP3	651	broad.mit.edu	37	4	81967361	81967361	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:81967361C>T	ENST00000282701.2	+	2	1106	c.786C>T	c.(784-786)caC>caT	p.H262H		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	262					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TACAGGGACACCGGAATTTTC	0.498000													17	97					0	0	0.028581	0	0
GRPR	2925	broad.mit.edu	37	X	16168473	16168473	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:16168473C>A	ENST00000380289.2	+	2	857	c.459C>A	c.(457-459)gcC>gcA	p.A153A		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	153					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CCTCTCATGCCCTGATGAAGA	0.498000													22	99					2.27731e-05	2.66734e-05	0.012319	1	0
AHNAK2	113146	broad.mit.edu	37	14	105417188	105417188	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:105417188C>T	ENST00000333244.5	-	7	4719	c.4600G>A	c.(4600-4602)Ggg>Agg	p.G1534R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1534						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGAGGTCCCCCTGCATGGAG	0.652000													27	273					0	0	0.014410	0	0
OR10K2	391107	broad.mit.edu	37	1	158389873	158389873	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:158389873G>T	ENST00000314902.2	-	1	783	c.784C>A	c.(784-786)Cct>Act	p.P262T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTGGACTGAGGCCTTAAGTAG	0.413000													17	92					3.99206e-14	6.69907e-14	0.007413	1	0
OR2W3	343171	broad.mit.edu	37	1	248059468	248059468	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:248059468G>A	ENST00000537741.1	+	3	837	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	OR2W3_ENST00000360358.3_Missense_Mutation_p.A194T			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGCACTGTGGCCATCGAAGG	0.602000													14	134					0	0	0.018920	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174855	207174855	+	Missense_Mutation	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:207174855T>C	ENST00000374423.3	+	5	5989	c.5603T>C	c.(5602-5604)gTt>gCt	p.V1868A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1868							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCAAAAAAGTTTCTTCGAAG	0.413000													5	42					0	0	0.014758	0	0
PODXL2	50512	broad.mit.edu	37	3	127379625	127379625	+	Missense_Mutation	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:127379625A>G	ENST00000342480.6	+	3	793	c.754A>G	c.(754-756)Aca>Gca	p.T252A		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	252					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CACCCCAACTACAGTGACTCC	0.627000													11	62					0	0	0.008291	0	0
TENM1	10178	broad.mit.edu	37	X	123779114	123779114	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:123779114C>A	ENST00000422452.2	-	10	1818	c.1755G>T	c.(1753-1755)aaG>aaT	p.K585N	TENM1_ENST00000371130.3_Missense_Mutation_p.K585N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACTCTGGCCCCTTCCAGCCAT	0.522000													68	272					2.18329e-32	4.20779e-32	0.014410	1	0
ZDBF2	57683	broad.mit.edu	37	2	207176110	207176110	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:207176110G>T	ENST00000374423.3	+	5	7244	c.6858G>T	c.(6856-6858)atG>atT	p.M2286I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2286							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAGCGCTATGGCAAATCCTC	0.507000													3	17					0.004672	0.00499394	0.004672	1	0
C11orf82	220042	broad.mit.edu	37	11	82643414	82643414	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:82643414G>C	ENST00000533655.1	+	6	1246	c.1034G>C	c.(1033-1035)cGa>cCa	p.R345P	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.R345P|C11orf82_ENST00000329143.3_Missense_Mutation_p.R44P	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	345					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTGGAAATGCGAGAGCCCCTT	0.403000													38	115					0	0	0.019004	0	0
OR4E2	26686	broad.mit.edu	37	14	22133904	22133904	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:22133904G>T	ENST00000408935.1	+	1	608	c.608G>T	c.(607-609)aGt>aTt	p.S203I		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTGACCAATAGTGGAACCATC	0.493000													22	60					4.35082e-09	6.24632e-09	0.010504	1	0
GALNTL5	168391	broad.mit.edu	37	7	151716812	151716812	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:151716812C>A	ENST00000392800.2	+	9	1512	c.1258C>A	c.(1258-1260)Ctg>Atg	p.L420M	GALNTL5_ENST00000431418.2_Missense_Mutation_p.L420M	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	420						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		AAGGAAACGACTGGGTTGCAA	0.398000													15	48					2.31682e-05	2.70864e-05	0.024245	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735739	55735739	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:55735739G>T	ENST00000312345.2	-	1	251	c.201C>A	c.(199-201)atC>atA	p.I67I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTGGGATAATGATTGTTACAT	0.348000													14	63					9.05144e-12	1.42847e-11	0.016723	1	0
DMTF1	9988	broad.mit.edu	37	7	86824364	86824364	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:86824364C>A	ENST00000414194.2	+	18	3185	c.1393C>A	c.(1393-1395)Cat>Aat	p.H465N	DMTF1_ENST00000394703.5_Missense_Mutation_p.H731N|DMTF1_ENST00000413276.2_Missense_Mutation_p.H661N|DMTF1_ENST00000432937.2_Missense_Mutation_p.H643N|DMTF1_ENST00000331242.7_Missense_Mutation_p.H731N			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	731	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACTCCAACATCATCAGGAAGA	0.338000													7	58					8.12818e-05	9.31446e-05	0.029380	1	0
TACC2	10579	broad.mit.edu	37	10	123970146	123970146	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:123970146G>T	ENST00000369005.1	+	9	6546	c.6206G>T	c.(6205-6207)cGg>cTg	p.R2069L	TACC2_ENST00000334433.3_Missense_Mutation_p.R2069L|TACC2_ENST00000360561.3_Missense_Mutation_p.R147L|TACC2_ENST00000515273.1_Missense_Mutation_p.R2073L|TACC2_ENST00000515603.1_Missense_Mutation_p.R2024L|TACC2_ENST00000368999.1_Missense_Mutation_p.R147L|TACC2_ENST00000453444.2_Missense_Mutation_p.R2073L|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369004.3_Missense_Mutation_p.R147L|TACC2_ENST00000513429.1_Missense_Mutation_p.R215L|TACC2_ENST00000260733.3_Missense_Mutation_p.R147L|TACC2_ENST00000358010.1_Missense_Mutation_p.R215L|TACC2_ENST00000369000.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2069						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTGAACACACGGAGGAAGTCC	0.517000													18	83					1.67942e-08	2.36307e-08	0.006122	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77913593	77913593	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:77913593G>T	ENST00000321110.1	-	2	620	c.325C>A	c.(325-327)Cca>Aca	p.P109T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	109	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGGGCTGCTGGGGCCTCCTGG	0.642000													6	26					0.00116845	0.00128126	0.021553	1	0
USP11	8237	broad.mit.edu	37	X	47107328	47107328	+	Nonstop_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:47107328G>C	ENST00000377107.2	+	21	3116	c.2762G>C	c.(2761-2763)tGa>tCa	p.*921S	USP11_ENST00000218348.3_Nonstop_Mutation_p.*964S			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	0					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GATGTTAATTGAGAGCCCTGG	0.597000													4	19					0	0	0.009096	0	0
TNNI3	7137	broad.mit.edu	37	19	55665404	55665404	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:55665404G>A	ENST00000344887.5	-	7	685	c.543C>T	c.(541-543)acC>acT	p.T181T	TNNI3_ENST00000588882.1_Silent_p.T156T	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	181					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCACCTTCTCGGTGTCCTCCT	0.622000													24	96					0	0	0.021523	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531365	140531365	+	Silent	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140531365C>T	ENST00000231136.1	+	1	1527	c.1527C>T	c.(1525-1527)ggC>ggT	p.G509G	PCDHB6_ENST00000543635.1_Silent_p.G373G	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		509	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGACAACGGCCACCTGTTTG	0.672000													36	198					0	0	0.023175	0	0
GPR101	83550	broad.mit.edu	37	X	136112640	136112640	+	Silent	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:136112640A>G	ENST00000298110.1	-	1	1193	c.1194T>C	c.(1192-1194)gcT>gcC	p.A398A		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	398						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGATCACTTTAGCAGCTTTGC	0.547000													16	76					0	0	0.024245	0	0
SEMA6D	80031	broad.mit.edu	37	15	48052056	48052056	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:48052056G>C	ENST00000316364.5	+	2	500	c.61G>C	c.(61-63)Gtc>Ctc	p.V21L	SEMA6D_ENST00000389433.2_Missense_Mutation_p.V21L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V21L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V21L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V21L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V21L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V21L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V21L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V21L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V21L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.V21L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V21L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	21					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTTGAGGGCAGTCAGCTTTCC	0.483000													17	83					0	0	0.008871	0	0
PBDC1	51260	broad.mit.edu	37	X	75395337	75395337	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:75395337G>T	ENST00000373358.3	+	4	389	c.186G>T	c.(184-186)ctG>ctT	p.L62L	PBDC1_ENST00000373357.3_Silent_p.L62L	NM_016500.3	NP_057584.2			polysaccharide biosynthesis domain containing 1																		CACAGTTCCTGAAACTCACCA	0.408000													4	36					0.00909568	0.00957757	0.009096	1	0
CACNA1B	774	broad.mit.edu	37	9	140991002	140991002	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr9:140991002C>A	ENST00000277549.5	+	37	5312	c.2743C>A	c.(2743-2745)Cta>Ata	p.L915I	CACNA1B_ENST00000371355.4_Missense_Mutation_p.L1722I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.L1719I|CACNA1B_ENST00000371372.1_Missense_Mutation_p.L1721I|CACNA1B_ENST00000371365.2_Missense_Mutation_p.L85I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L1721I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L1720I			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1721					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCTTCCATCCTAGGTCCTCA	0.557000													26	58					3.28513e-13	5.4128e-13	0.021523	1	0
PRUNE	58497	broad.mit.edu	37	1	151006393	151006393	+	Nonsense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:151006393A>T	ENST00000271620.3	+	8	1201	c.1045A>T	c.(1045-1047)Aag>Tag	p.K349*	PRUNE_ENST00000368934.1_Nonsense_Mutation_p.K114*|PRUNE_ENST00000368936.1_Nonsense_Mutation_p.K167*|PRUNE_ENST00000368937.1_Nonsense_Mutation_p.K114*|PRUNE_ENST00000271619.8_Nonsense_Mutation_p.K137*|PRUNE_ENST00000368935.1_Nonsense_Mutation_p.K64*	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	349						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTCTCTCGAAAGAAACTTCT	0.557000													71	175					0	0	0.014410	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303513	151303513	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:151303513C>A	ENST00000370323.4	-	4	896	c.580G>T	c.(580-582)Gtg>Ttg	p.V194L	MAGEA10_ENST00000244096.3_Missense_Mutation_p.V194L|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	194	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGATCCACTTCCTTTACA	0.498000													19	104					5.35267e-07	6.97602e-07	0.007413	1	0
DGKB	1607	broad.mit.edu	37	7	14724966	14724966	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:14724966G>T	ENST00000403951.2	-	10	1152	c.733C>A	c.(733-735)Cac>Aac	p.H245N	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.H245N|DGKB_ENST00000399322.3_Missense_Mutation_p.H245N|DGKB_ENST00000444700.2_Missense_Mutation_p.H238N|DGKB_ENST00000407950.1_Missense_Mutation_p.H238N|DGKB_ENST00000406247.3_Missense_Mutation_p.H245N|DGKB_ENST00000258767.5_Missense_Mutation_p.H245N			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	245					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CGCCACACGTGCTGTCCATCA	0.463000													11	63					2.80697e-09	4.04815e-09	0.010729	1	0
STARD8	9754	broad.mit.edu	37	X	67943859	67943859	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:67943859G>A	ENST00000252336.6	+	13	3222	c.2850G>A	c.(2848-2850)gtG>gtA	p.V950V	STARD8_ENST00000374599.3_Silent_p.V1030V|STARD8_ENST00000374597.3_Silent_p.V950V	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	950	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AACAACCTGTGCCAGAGTCGG	0.627000													11	66					0	0	0.010729	0	0
SF3B3	23450	broad.mit.edu	37	16	70590926	70590926	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:70590926G>T	ENST00000302516.5	+	15	2215	c.2004G>T	c.(2002-2004)ggG>ggT	p.G668G		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	668					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGAATATTGGGCTACAGGTAA	0.507000													10	37					1.76689e-08	2.46435e-08	0.006214	1	0
BCORL1	63035	broad.mit.edu	37	X	129147583	129147583	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:129147583G>T	ENST00000540052.1	+	3	879	c.835G>T	c.(835-837)Gcc>Tcc	p.A279S	BCORL1_ENST00000218147.7_Missense_Mutation_p.A279S|BCORL1_ENST00000303743.5_Missense_Mutation_p.A279S|BCORL1_ENST00000359304.2_Missense_Mutation_p.A279S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	279	Pro-rich.				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						TTCTGTTTCGGCCTCAGTCTT	0.637000													25	126					3.65163e-15	6.31097e-15	0.030593	1	0
KCNC1	3746	broad.mit.edu	37	11	17793517	17793517	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:17793517G>A	ENST00000379472.3	+	2	906	c.876G>A	c.(874-876)gaG>gaA	p.E292E	KCNC1_ENST00000265969.6_Silent_p.E292E	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	292						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCTACCTGGAGGTGGGGCTGA	0.572000													13	92					0	0	0.016723	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202930	140202930	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140202930C>T	ENST00000529859.1	+	1	1570	c.1570C>T	c.(1570-1572)Cac>Tac	p.H524Y	PCDHA5_ENST00000378126.3_Missense_Mutation_p.H524Y|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.H524Y|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_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)			GCCGCTGGACCACGAGGAAGT	0.692000													30	150					0	0	0.009535	0	0
NR0B1	190	broad.mit.edu	37	X	30327329	30327329	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:30327329C>T	ENST00000378970.4	-	1	386	c.152G>A	c.(151-153)aGa>aAa	p.R51K	NR0B1_ENST00000453287.1_Missense_Mutation_p.R51K	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	51	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CAGCCCCTCTCTGCCCACCCC	0.672000													7	43					0	0	0.004482	0	0
FAM169B	283777	broad.mit.edu	37	15	98995202	98995202	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:98995202C>A	ENST00000558256.1	-	5	471	c.222G>T	c.(220-222)ctG>ctT	p.L74L	FAM169B_ENST00000332908.4_Silent_p.L74L	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	74										large_intestine(3)|lung(3)|urinary_tract(1)	7						AGACAGGCAGCAGGTAGCATG	0.587000													8	37					2.17888e-05	2.55676e-05	0.006214	1	0
CYP11B2	1585	broad.mit.edu	37	8	143994787	143994787	+	Silent	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:143994787C>G	ENST00000323110.2	-	6	1037	c.1035G>C	c.(1033-1035)ctG>ctC	p.L345L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	345					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTGCGGCGGCCAGGCTCTCCT	0.637000									Familial Hyperaldosteronism type I				26	121					0	0	0.024334	0	0
SAMD14	201191	broad.mit.edu	37	17	48195635	48195635	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:48195635G>T	ENST00000330175.4	-	3	417	c.100C>A	c.(100-102)Cgg>Agg	p.R34R	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Silent_p.R34R	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	34										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGTTGGGCCCGGGCCTTGTGT	0.657000													6	64					0.0293803	0.0304331	0.029380	1	0
ZXDA	7789	broad.mit.edu	37	X	57936015	57936015	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:57936015C>A	ENST00000358697.4	-	1	1052	c.840G>T	c.(838-840)aaG>aaT	p.K280N		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	280	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GCTGGTGCTTCTTGGCGAAGG	0.692000													5	24					0.000602214	0.00067431	0.014758	1	0
LBR	3930	broad.mit.edu	37	1	225609925	225609925	+	Nonsense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:225609925T>A	ENST00000338179.2	-	3	345	c.220A>T	c.(220-222)Aga>Tga	p.R74*	LBR_ENST00000272163.4_Nonsense_Mutation_p.R74*	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	74	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CCTCGGCGTCTGGAAGGGGAA	0.527000													14	59					0	0	0.020292	0	0
ZNF536	9745	broad.mit.edu	37	19	31040324	31040324	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:31040324G>T	ENST00000355537.3	+	4	3945	c.3798G>T	c.(3796-3798)tcG>tcT	p.S1266S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACATGCTGTCGGTCCTCAGGG	0.587000													6	31					0.00198382	0.00215677	0.029380	1	0
VPS13B	157680	broad.mit.edu	37	8	100844858	100844858	+	Missense_Mutation	SNP	C	C	T	rs149842139	byFrequency	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:100844858C>T	ENST00000358544.2	+	52	9778	c.9667C>T	c.(9667-9669)Cgg>Tgg	p.R3223W	VPS13B_ENST00000357162.2_Missense_Mutation_p.R3198W|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3223					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)			CGGGAATTTCCGGGAAAATGG	0.468000													18	64					0	0	0.033300	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884712	228884712	+	Silent	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:228884712A>T	ENST00000392056.3	-	7	904	c.858T>A	c.(856-858)tcT>tcA	p.S286S	SPHKAP_ENST00000344657.5_Silent_p.S286S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	286						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGTTTTCTGGAGATCGTTCTG	0.443000													24	198					0	0	0.016522	0	0
OR4C46	119749	broad.mit.edu	37	11	51515712	51515712	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:51515712G>T	ENST00000328188.1	+	1	431	c.431G>T	c.(430-432)gGa>gTa	p.G144V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTGCTAATGGGAGTGGTGTGG	0.453000													24	159					7.87624e-14	1.31477e-13	0.016522	1	0
SLC18A1	6570	broad.mit.edu	37	8	20022571	20022571	+	Silent	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:20022571G>T	ENST00000440926.1	-	10	1376	c.906C>A	c.(904-906)atC>atA	p.I302I	SLC18A1_ENST00000276373.5_Silent_p.I302I|SLC18A1_ENST00000381608.4_Silent_p.I302I|SLC18A1_ENST00000437980.1_Silent_p.I302I|SLC18A1_ENST00000519026.1_Silent_p.I302I|SLC18A1_ENST00000265808.7_Silent_p.I302I	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	302					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CAGCCACCAGGATGTAAGGGT	0.537000													19	68					3.99206e-14	6.69907e-14	0.007413	1	0
ZNF107	51427	broad.mit.edu	37	7	64168858	64168858	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:64168858G>T	ENST00000395391.1	+	4	3551	c.2176G>T	c.(2176-2178)Ggc>Tgc	p.G726C	ZNF107_ENST00000423627.1_Missense_Mutation_p.G726C|ZNF107_ENST00000344930.3_Missense_Mutation_p.G726C			Q9UII5	ZN107_HUMAN	zinc finger protein 107	726					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TGAAGAATGTGGCAAATCCTT	0.348000													5	23					0.014758	0.0154123	0.014758	1	0
EMR1	2015	broad.mit.edu	37	19	6897259	6897259	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr19:6897259C>A	ENST00000312053.4	+	4	375	c.338C>A	c.(337-339)tCt>tAt	p.S113Y	EMR1_ENST00000381407.5_Intron|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000450315.3_Missense_Mutation_p.S113Y|EMR1_ENST00000381404.4_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.S113Y	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	113	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GATGGTTTCTCTTCTCCCACT	0.502000													11	38					1.33987e-11	2.09891e-11	0.008291	1	0
TAT	6898	broad.mit.edu	37	16	71604215	71604215	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:71604215C>A	ENST00000355962.4	-	9	1131	c.998G>T	c.(997-999)cGc>cTc	p.R333L	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	333					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TCCCGGGGTGCGACATAGGAT	0.552000													11	57					1.58986e-06	2.01827e-06	0.008291	1	0
FAT2	2196	broad.mit.edu	37	5	150945590	150945590	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:150945590G>T	ENST00000261800.5	-	1	2915	c.2903C>A	c.(2902-2904)gCc>gAc	p.A968D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	968	Cadherin 8.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCCCATGGGCGCCATCCAT	0.607000													10	59					0.000673444	0.000748794	0.008291	1	0
MYL1	4632	broad.mit.edu	37	2	211163206	211163206	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:211163206G>T	ENST00000352451.3	-	3	389	c.242C>A	c.(241-243)gCt>gAt	p.A81D	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.A37D	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	81	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TGTGCCCAGAGCTCGAAGGAC	0.463000													10	96					2.17888e-05	2.55676e-05	0.006214	1	0
FSCB	84075	broad.mit.edu	37	14	44976080	44976080	+	Missense_Mutation	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:44976080G>C	ENST00000340446.4	-	1	402	c.111C>G	c.(109-111)agC>agG	p.S37R		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	37						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTGCCTTTGCTTCCAGAAG	0.413000													34	128					0	0	0.012213	0	0
PRG4	10216	broad.mit.edu	37	1	186275895	186275895	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:186275895G>A	ENST00000445192.2	+	7	1089	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	PRG4_ENST00000367484.3_Silent_p.K307K|PRG4_ENST00000367486.3_Silent_p.K305K|PRG4_ENST00000367485.4_Silent_p.K255K|PRG4_ENST00000367483.4_Silent_p.K307K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	348	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAGGAGCCCACGC	0.547000													54	134					0	0	0.014410	0	0
HRNR	388697	broad.mit.edu	37	1	152193475	152193475	+	Silent	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:152193475A>G	ENST00000368801.2	-	3	705	c.630T>C	c.(628-630)tcT>tcC	p.S210S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	210					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCGGAGCCAGAGCCGTGTT	0.572000													34	225					0	0	0.010818	0	0
TRIM51	84767	broad.mit.edu	37	11	55653015	55653015	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:55653015C>A	ENST00000449290.2	+	2	203	c.111C>A	c.(109-111)ccC>ccA	p.P37P		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	37						intracellular	zinc ion binding										TTTGCCGGCCCTGTTTGTACC	0.507000													10	58					1.58986e-06	2.01827e-06	0.008291	1	0
COL11A1	1301	broad.mit.edu	37	1	103544311	103544311	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:103544311C>A	ENST00000358392.2	-	3	708	c.391G>T	c.(391-393)Gtt>Ttt	p.V131F	COL11A1_ENST00000512756.1_Missense_Mutation_p.V131F|COL11A1_ENST00000370096.3_Missense_Mutation_p.V131F|COL11A1_ENST00000353414.4_Missense_Mutation_p.V131F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	131	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATCTCCCAACCTCAACACCA	0.383000													8	41					5.18039e-06	6.36048e-06	0.003080	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117960036	117960036	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:117960036G>A	ENST00000310164.2	+	4	1336	c.829G>A	c.(829-831)Gtg>Atg	p.V277M		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	277					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						CGATGAGGATGTGATCCTGGT	0.567000													18	104					0	0	0.007413	0	0
RTTN	25914	broad.mit.edu	37	18	67812964	67812964	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:67812964C>A	ENST00000255674.6	-	18	2651	c.2365G>T	c.(2365-2367)Gct>Tct	p.A789S	RTTN_ENST00000454359.1_Missense_Mutation_p.A789S|RTTN_ENST00000437017.1_Missense_Mutation_p.A789S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	789							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTTGTATCAGCCCCTTCTTCA	0.418000													9	92					0.000274275	0.000308742	0.004482	1	0
PROS1	5627	broad.mit.edu	37	3	93615497	93615497	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:93615497C>A	ENST00000394236.3	-	9	1204	c.888G>T	c.(886-888)aaG>aaT	p.K296N	PROS1_ENST00000407433.1_Missense_Mutation_p.K165N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	296					leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GTAATTCATACTTTGTGTCAA	0.363000													33	136					1.07637e-12	1.75082e-12	0.021022	1	0
ATRNL1	26033	broad.mit.edu	37	10	117026348	117026348	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr10:117026348A>T	ENST00000355044.3	+	12	1973	c.1847A>T	c.(1846-1848)aAg>aTg	p.K616M		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	616	PSI 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCAAATTGCAAGGCTTTCAGA	0.338000													20	70					0	0	0.008871	0	0
KIAA1244	57221	broad.mit.edu	37	6	138628520	138628520	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:138628520G>T	ENST00000251691.4	+	23	4125	c.3959G>T	c.(3958-3960)gGt>gTt	p.G1320V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1320					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TACCTGGTTGGTGACTACTCC	0.433000													13	93					4.36969e-10	6.44808e-10	0.016723	1	0
NPY5R	4889	broad.mit.edu	37	4	164271488	164271488	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:164271488C>A	ENST00000515560.1	+	4	1585	c.63C>A	c.(61-63)gcC>gcA	p.A21A	NPY5R_ENST00000506953.1_Silent_p.A21A|NPY5R_ENST00000338566.3_Silent_p.A21A			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	21					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATACTGCTGCCACTCGGAATT	0.383000													14	50					7.93312e-07	1.01723e-06	0.020292	1	0
COL7A1	1294	broad.mit.edu	37	3	48628953	48628953	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:48628953G>T	ENST00000328333.8	-	12	1687	c.1580C>A	c.(1579-1581)tCc>tAc	p.S527Y	COL7A1_ENST00000454817.1_Missense_Mutation_p.S527Y	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	527	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGGCTCCAGGACACTCGCAC	0.642000													14	95					2.61681e-11	4.06918e-11	0.020292	1	0
ZIC4	84107	broad.mit.edu	37	3	147108970	147108970	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:147108970C>T	ENST00000383075.3	-	4	1264	c.752G>A	c.(751-753)cGt>cAt	p.R251H	ZIC4_ENST00000425731.3_Missense_Mutation_p.R289H|ZIC4_ENST00000525172.2_Missense_Mutation_p.R301H|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.R251H|ZIC4_ENST00000484399.1_Missense_Mutation_p.R251H|ZIC4_ENST00000491672.1_Missense_Mutation_p.R45H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	251						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ATGCTTCTTACGGTCGCTGCT	0.617000													5	39					0	0	0.029380	0	0
AMMECR1	9949	broad.mit.edu	37	X	109560903	109560903	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:109560903A>T	ENST00000262844.5	-	1	564	c.397T>A	c.(397-399)Ttt>Att	p.F133I	AMMECR1_ENST00000496695.1_5'UTR|AMMECR1_ENST00000372059.2_Missense_Mutation_p.F133I|AMMECR1_ENST00000372057.1_Missense_Mutation_p.F10I	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	133	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						TCGAAGCAAAAGCAGCACATC	0.647000													7	26					0	0	0.029380	0	0
DRD2	1813	broad.mit.edu	37	11	113281557	113281557	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:113281557G>T	ENST00000362072.3	-	8	1568	c.1224C>A	c.(1222-1224)taC>taA	p.Y408*	DRD2_ENST00000542968.1_Nonsense_Mutation_p.Y408*|DRD2_ENST00000538967.1_Nonsense_Mutation_p.Y410*|DRD2_ENST00000355319.2_Nonsense_Mutation_p.Y410*|DRD2_ENST00000346454.3_Nonsense_Mutation_p.Y379*|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000544518.1_Nonsense_Mutation_p.Y407*	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	408					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGAAGGCGCTGTACAGGACAG	0.557000													14	94					4.36969e-10	6.44808e-10	0.016723	1	0
ARSF	416	broad.mit.edu	37	X	3002504	3002504	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:3002504C>A	ENST00000381127.1	+	6	848	c.627C>A	c.(625-627)agC>agA	p.S209R	ARSF_ENST00000537104.1_Missense_Mutation_p.S209R|ARSF_ENST00000359361.2_Missense_Mutation_p.S209R	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	209						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAAGCTGAGCGGCTGGGTCT	0.517000													13	100					9.31168e-06	1.1174e-05	0.016723	1	0
SPTA1	6708	broad.mit.edu	37	1	158645988	158645988	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:158645988C>A	ENST00000368148.3	-	8	1235	c.1055G>T	c.(1054-1056)tGg>tTg	p.W352L	SPTA1_ENST00000368147.3_Missense_Mutation_p.W352L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	352					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)					AATATGCTCCCAGCTGGAGAC	0.483000													41	103					8.69298e-16	1.51888e-15	0.027894	1	0
LINC00303	284573	broad.mit.edu	37	1	204009482	204009482	+	RNA	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:204009482G>T	ENST00000367207.3	-	0	214																											GTTCAGTGTTGTTCTGAGTTC	0.358000													6	7					3.59834e-05	4.18381e-05	0.021553	1	0
DUSP11	8446	broad.mit.edu	37	2	74007070	74007070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:74007070C>T	ENST00000443070.1	-	1	178	c.173G>A	c.(172-174)tGg>tAg	p.W58*	DUSP11_ENST00000272444.3_Nonsense_Mutation_p.W58*|DUSP11_ENST00000377706.4_Nonsense_Mutation_p.W11*			O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	11					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TCTCCGGCCCCAGCCACTGCG	0.622000											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	79					0	0	0.033300	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436448	25436448	+	RNA	SNP	G	G	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:25436448G>C	ENST00000424208.1	+	0	1043				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CCCCTGGTGAGCTGAAGCTCA	0.637000													7	94					0	0	0.029380	0	0
GPR112	139378	broad.mit.edu	37	X	135429187	135429187	+	Nonsense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:135429187G>T	ENST00000394143.1	+	6	3613	c.3322G>T	c.(3322-3324)Gaa>Taa	p.E1108*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.E1045*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E903*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E1108*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E903*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1108					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)					TTCTCTGACAGAAACACCATT	0.473000													44	197					1.7489e-18	3.18711e-18	0.011902	1	0
VWF	7450	broad.mit.edu	37	12	6181546	6181546	+	Nonsense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:6181546C>A	ENST00000261405.5	-	9	1314	c.1060G>T	c.(1060-1062)Gga>Tga	p.G354*		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	354					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TAGCGCTTTCCGGAATGCACG	0.632000													17	87					5.3912e-06	6.60656e-06	0.006122	1	0
MAGEA6	4105	broad.mit.edu	37	X	151869560	151869560	+	Missense_Mutation	SNP	T	T	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:151869560T>G	ENST00000329342.5	+	3	475	c.250T>G	c.(250-252)Tat>Gat	p.Y84D		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	84							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCCAATCCTATGAGGACTC	0.597000													21	86					0	0	0.021523	0	0
OTX1	5013	broad.mit.edu	37	2	63283419	63283419	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:63283419G>A	ENST00000282549.2	+	5	1309	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	OTX1_ENST00000366671.3_Missense_Mutation_p.D345N	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	345						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GGACTATAAGGACCAAGCCTC	0.577000													8	61					0	0	0.004482	0	0
FAM135B	51059	broad.mit.edu	37	8	139144923	139144923	+	Silent	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr8:139144923G>A	ENST00000395297.1	-	20	4304	c.4134C>T	c.(4132-4134)atC>atT	p.I1378I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1378										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)			CGGCTCGGCCGATCAGGGTGT	0.537000										HNSCC(54;0.14)			53	240					0	0	0.014410	0	0
SEMA6A	57556	broad.mit.edu	37	5	115813603	115813603	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:115813603C>T	ENST00000343348.6	-	15	2375	c.1588G>A	c.(1588-1590)Gac>Aac	p.D530N	CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.D62N|SEMA6A_ENST00000510263.1_Missense_Mutation_p.D530N|SEMA6A_ENST00000257414.8_Missense_Mutation_p.D530N	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	530					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAATATGGGTCTCTGGAGGCA	0.502000													25	141					0	0	0.030593	0	0
MXRA5	25878	broad.mit.edu	37	X	3229391	3229391	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:3229391C>A	ENST00000217939.6	-	7	7007	c.6853G>T	c.(6853-6855)Gtg>Ttg	p.V2285L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2285	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGGAGTTCACCAGACTCCCG	0.567000													21	112					3.51602e-12	5.63271e-12	0.008871	1	0
OR4M2	390538	broad.mit.edu	37	15	22368804	22368804	+	Missense_Mutation	SNP	A	A	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:22368804A>T	ENST00000332663.2	+	1	327	c.229A>T	c.(229-231)Aca>Tca	p.T77S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCTTCCATTACAGCCCCTGA	0.433000													47	540					0	0	0.011902	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182249	57182249	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:57182249G>T	ENST00000504228.1	+	6	2686	c.2581G>T	c.(2581-2583)Gac>Tac	p.D861Y	KIAA1211_ENST00000264229.6_Missense_Mutation_p.D861Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.D854Y			Q6ZU35	K1211_HUMAN	KIAA1211	861										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTTCAACTGCGACCAACAGGC	0.552000													6	44					0.00116845	0.00128126	0.021553	1	0
GAREM	64762	broad.mit.edu	37	18	29867127	29867127	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:29867127C>A	ENST00000399218.4	-	4	1488	c.1433G>T	c.(1432-1434)tGt>tTt	p.C478F	GAREM_ENST00000269209.6_Missense_Mutation_p.C478F	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		AAACTGATCACATCTGTTCTT	0.537000													27	106					1.2476e-16	2.22261e-16	0.030593	1	0
SLC27A6	28965	broad.mit.edu	37	5	128362849	128362849	+	Silent	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:128362849C>A	ENST00000262462.4	+	7	2289	c.1279C>A	c.(1279-1281)Cga>Aga	p.R427R	SLC27A6_ENST00000506176.1_Silent_p.R427R|SLC27A6_ENST00000395266.1_Silent_p.R427R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	427					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCTCATTTCTCGAGTGAATGC	0.368000													11	63					3.86212e-05	4.47415e-05	0.008291	1	0
SOX3	6658	broad.mit.edu	37	X	139586844	139586844	+	Missense_Mutation	SNP	T	T	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:139586844T>A	ENST00000370536.2	-	1	381	c.382A>T	c.(382-384)Agc>Tgc	p.S128C		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	128					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCACCTCCGCTCGCACCACCG	0.721000													7	42					0	0	0.003080	0	0
STXBP5	134957	broad.mit.edu	37	6	147704039	147704039	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:147704039G>T	ENST00000367481.3	+	25	3319	c.3211G>T	c.(3211-3213)Gca>Tca	p.A1071S	STXBP5_ENST00000179882.6_Missense_Mutation_p.A762S|STXBP5_ENST00000321680.6_Missense_Mutation_p.A1107S|STXBP5_ENST00000367480.3_Missense_Mutation_p.A1054S	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1107					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGCCAGGCTGGCACTAGATGA	0.498000													18	123					9.16793e-09	1.30735e-08	0.033300	1	0
BUD31	8896	broad.mit.edu	37	7	99015095	99015095	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:99015095C>G	ENST00000403633.2	+	5	790	c.261C>G	c.(259-261)aaC>aaG	p.N87K	BUD31_ENST00000222969.5_Missense_Mutation_p.N87K|PTCD1_ENST00000292478.4_3'UTR|BUD31_ENST00000431419.1_Missense_Mutation_p.N58K|BUD31_ENST00000456893.1_Missense_Mutation_p.N46K			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	87					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAGACAAAAACCTGATTGCAA	0.463000													6	36					0	0	0.021553	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786272	121786272	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:121786272C>A	ENST00000261367.7	+	12	3299	c.1871C>A	c.(1870-1872)cCa>cAa	p.P624Q	CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P179Q|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P211Q|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P577Q|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P517Q|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P624Q|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P135Q			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	577					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGAAATCTCCAGATGCAGAT	0.483000													29	127					5.77227e-19	1.06103e-18	0.037714	1	0
ALB	213	broad.mit.edu	37	4	74285336	74285336	+	Nonsense_Mutation	SNP	G	G	T	rs75709682		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:74285336G>T	ENST00000295897.4	+	13	1854	c.1765G>T	c.(1765-1767)Gag>Tag	p.E589*	ALB_ENST00000401494.3_Nonsense_Mutation_p.E474*|ALB_ENST00000503124.1_Nonsense_Mutation_p.E439*|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Nonsense_Mutation_p.E589*|ALB_ENST00000415165.2_Nonsense_Mutation_p.E397*	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	589	Albumin 3.		E -> K (in Osaka-1).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGACGATAAGGAGACCTGCTT	0.428000													13	75					1.3612e-06	1.7419e-06	0.024245	1	0
PDE9A	5152	broad.mit.edu	37	21	44152188	44152188	+	Missense_Mutation	SNP	G	G	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr21:44152188G>A	ENST00000291539.6	+	6	511	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Missense_Mutation_p.E24K|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.E110K|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000328862.6_Missense_Mutation_p.E125K|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000335512.4_Missense_Mutation_p.E91K|PDE9A_ENST00000398232.3_Missense_Mutation_p.E84K|PDE9A_ENST00000398236.3_Missense_Mutation_p.E65K|PDE9A_ENST00000398234.3_Missense_Mutation_p.E50K|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000335440.6_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	151					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	p.E151*(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						AGAGAGAGAAGAATTAATCCA	0.488000													9	27					0	0	0.008291	0	0
PLA1A	51365	broad.mit.edu	37	3	119325679	119325679	+	Silent	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:119325679T>C	ENST00000273371.4	+	2	204	c.132T>C	c.(130-132)ttT>ttC	p.F44F	PLA1A_ENST00000495992.1_Silent_p.F44F|PLA1A_ENST00000494440.1_Silent_p.F28F|PLA1A_ENST00000488919.1_Intron	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	44					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAACCTTTTTGAAGGCACCG	0.512000													31	155					0	0	0.012213	0	0
DOCK10	55619	broad.mit.edu	37	2	225729643	225729643	+	Silent	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:225729643T>C	ENST00000409592.3	-	12	1514	c.1401A>G	c.(1399-1401)agA>agG	p.R467R	DOCK10_ENST00000258390.7_Silent_p.R473R			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	473							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTCTGATTGTCTTGGAGTGA	0.448000													8	199					0	0	0.006214	0	0
GCLC	2729	broad.mit.edu	37	6	53385617	53385617	+	Silent	SNP	T	T	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:53385617T>C	ENST00000229416.6	-	3	888	c.405A>G	c.(403-405)ttA>ttG	p.L135L	GCLC_ENST00000514004.1_Silent_p.L135L	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	135					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GATTTTCTTCTAATATAGAAG	0.443000													15	173					0	0	0.024245	0	0
SH3TC2	79628	broad.mit.edu	37	5	148420208	148420208	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:148420208C>A	ENST00000515425.1	-	7	865	c.764G>T	c.(763-765)gGc>gTc	p.G255V	SH3TC2_ENST00000394358.2_Missense_Mutation_p.G140V|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.G248V	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	255							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGAAAGGCCACAGCTTCC	0.418000													16	57					1.67942e-08	2.36307e-08	0.006122	1	0
COL11A1	1301	broad.mit.edu	37	1	103427822	103427822	+	Splice_Site	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:103427822C>A	ENST00000358392.2	-	40	3378		c.e40-1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGATCACCCTAAAGAATAT	0.388000													14	65					7.93312e-07	1.01723e-06	0.020292	1	0
SERPINA7	6906	broad.mit.edu	37	X	105277592	105277592	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:105277592G>T	ENST00000327674.4	-	4	1482	c.1147C>A	c.(1147-1149)Cct>Act	p.P383T	SERPINA7_ENST00000372563.1_Missense_Mutation_p.P383T			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	383			P -> L (in TBG deficiency; Kumamoto).		regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGATAATAGGGTGTAGGAAA	0.438000													54	340					1.0442e-30	2.00637e-30	0.014410	1	0
ZNF592	9640	broad.mit.edu	37	15	85345586	85345586	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr15:85345586C>G	ENST00000299927.3	+	8	3788	c.3766C>G	c.(3766-3768)Cag>Gag	p.Q1256E	ZNF592_ENST00000560079.2_Missense_Mutation_p.Q1256E			Q92610	ZN592_HUMAN	zinc finger protein 592	1256					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACAGGCCTCTCAGGACCAGGA	0.622000													3	38					0	0	0.004672	0	0
OR1J4	26219	broad.mit.edu	37	9	125281713	125281713	+	Silent	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr9:125281713A>G	ENST00000340750.1	+	1	294	c.294A>G	c.(292-294)gtA>gtG	p.V98V		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CAGGGTGTGTAACTCAGATGT	0.423000													55	120					0	0	0.014410	0	0
AFF1	4299	broad.mit.edu	37	4	88055667	88055667	+	Missense_Mutation	SNP	C	C	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:88055667C>T	ENST00000307808.6	+	19	3752	c.3332C>T	c.(3331-3333)gCc>gTc	p.A1111V	AFF1_ENST00000544085.1_Missense_Mutation_p.A750V|AFF1_ENST00000395146.4_Missense_Mutation_p.A1119V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1111						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCTTCTCCTGCCAGCTCCGTA	0.567000													83	374					0	0	0.014410	0	0
KRT12	3859	broad.mit.edu	37	17	39023359	39023359	+	Missense_Mutation	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:39023359A>G	ENST00000251643.4	-	1	103	c.80T>C	c.(79-81)aTa>aCa	p.I27T		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	27	Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GGGTCTGCCTATCACACTCTG	0.602000													8	73					0	0	0.008291	0	0
OR6M1	390261	broad.mit.edu	37	11	123676321	123676321	+	Missense_Mutation	SNP	G	G	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:123676321G>T	ENST00000309154.2	-	1	774	c.737C>A	c.(736-738)tCc>tAc	p.S246Y		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GTGGGCAATGGAGACAACAGT	0.512000													13	41					2.27111e-07	3.00297e-07	0.013537	1	0
PCDHGA11	56105	broad.mit.edu	37	5	140801052	140801052	+	Missense_Mutation	SNP	C	C	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:140801052C>G	ENST00000398587.2	+	1	291	c.258C>G	c.(256-258)atC>atG	p.I86M	PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.I86M|PCDHGA6_ENST00000517434.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTGATCACGGCAGGCA	0.572000													18	75					0	0	0.010504	0	0
NR0B1	190	broad.mit.edu	37	X	30326724	30326724	+	Missense_Mutation	SNP	C	C	A			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:30326724C>A	ENST00000378970.4	-	1	991	c.757G>T	c.(757-759)Gtg>Ttg	p.V253L	NR0B1_ENST00000453287.1_Missense_Mutation_p.V253L	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	253	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TCGCAGACCACCTGTGGACTC	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	26					0.00198382	0.00215677	0.029380	1	0
FCRL1	115350	broad.mit.edu	37	1	157769856	157769856	+	Silent	SNP	A	A	G			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:157769856A>G	ENST00000358292.3	-	6	957	c.906T>C	c.(904-906)gaT>gaC	p.D302D	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.D341D|FCRL1_ENST00000368176.3_Silent_p.D341D	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	341						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACCTGAGTGGATCCCTGGCTG	0.388000													9	37					0	0	0.008291	0	0
CROCCP2	84809	broad.mit.edu	37	1	16957305	16957306	+	RNA	INS	-	-	C	rs139092192	by1000genomes	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:16957305_16957306insC	ENST00000412962.1	-	0	294																											CCCCAGACACGCCCCCACCCCC	0.663													2	4	---	---	---	---					
GJA8	2703	broad.mit.edu	37	1	147380436	147380436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr1:147380436delG	ENST00000240986.4	+	2	407	c.354delG	c.(352-354)gcfs	p.A118fs	GJA8_ENST00000369235.1_Frame_Shift_Del_p.A118fs	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	118					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCCAGCAGGCGGGGACTAACG	0.662													41	97	---	---	---	---					
CCDC142	84865	broad.mit.edu	37	2	74709220	74709220	+	Frame_Shift_Del	DEL	T	T	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr2:74709220delT	ENST00000393965.3	-	1	1141	c.745delA	c.(745-747)gtfs	p.S249fs	CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Frame_Shift_Del_p.S249fs	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	249										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCCAGCCGACTTGCCACCTGG	0.677													18	52	---	---	---	---					
TRH	7200	broad.mit.edu	37	3	129695643	129695643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:129695643delG	ENST00000302649.3	+	3	840	c.313delG	c.(313-315)ggfs	p.G106fs	TRH_ENST00000507066.1_Frame_Shift_Del_p.G102fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	106					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						agaggaagaagggggggCTGT	0.567													7	63	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169644460	169644467	+	Frame_Shift_Del	DEL	CTGCCTAC	CTGCCTAC	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr3:169644460_169644467delCTGCCTAC	ENST00000428432.2	+	6	799_806	c.410_417delCTGCCTAC	c.(409-417)gfs	p.AAY137fs	SAMD7_ENST00000335556.3_Frame_Shift_Del_p.AAY137fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	137										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GCTGCCCCCGCTGCCTACCATGGCAGGA	0.548													8	76	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96171725	96171725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:96171725delG	ENST00000453304.1	-	5	1036	c.688delC	c.(688-690)gafs	p.R230fs	UNC5C_ENST00000504962.1_Frame_Shift_Del_p.R230fs|UNC5C_ENST00000506749.1_Frame_Shift_Del_p.R230fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	230	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCAGAGAGTCGGGCCTGCTTT	0.398													34	157	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134073021	134073039	+	Frame_Shift_Del	DEL	GCGCCTCTACCAGGGCGCA	GCGCCTCTACCAGGGCGCA	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:134073021_134073039delGCGCCTCTACCAGGGCGCA	ENST00000264360.4	+	1	2552_2570	c.1726_1744delGCGCCTCTACCAGGGCGCA	c.(1726-1746)acfs	p.APLPGRN576fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	576					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGCCATCGTGGCGCCTCTACCAGGGCGCAACGGGACTCC	0.694													7	86	---	---	---	---					
TLL1	7092	broad.mit.edu	37	4	166964494	166964494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr4:166964494delC	ENST00000061240.2	+	12	2094	c.1447delC	c.(1447-1449)gcfs	p.R483fs	TLL1_ENST00000507499.1_Frame_Shift_Del_p.R483fs	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	483	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGATGACTATCGCCCGATGAA	0.413													18	94	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	RNA	INS	-	-	A	rs1815381		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718													5	9	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80745022	80745023	+	Frame_Shift_Ins	INS	-	-	G	rs55918562		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:80745022_80745023insG	ENST00000509894.1	+	16	2638_2639	c.1809_1810insG	c.(1807-1812)tggaaafs	p.K604fs	TTK_ENST00000369798.2_Frame_Shift_Ins_p.K605fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K604fs			P33981	TTK_HUMAN	TTK protein kinase	605	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TAATGGAGTGTGGAAATATTGA	0.327													15	48	---	---	---	---					
TAAR6	319100	broad.mit.edu	37	6	132891761	132891761	+	Frame_Shift_Del	DEL	G	G	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr6:132891761delG	ENST00000275198.1	+	1	301	c.301delG	c.(301-303)ggfs	p.G101fs		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	101						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CTGGTATTTTGGGAGGAGTTT	0.493													37	119	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5430010	5430011	+	Frame_Shift_Del	DEL	AG	AG	-	rs34840801		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:5430010_5430011delAG	ENST00000399434.2	-	3	528_529	c.370_371delCT	c.(370-372)tfs	p.L124fs	TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000430969.1_Intron			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	0							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aaaaaaaaaaaGCCAGCATCCT	0.550													5	9	---	---	---	---					
ELMO1	9844	broad.mit.edu	37	7	37354511	37354512	+	Frame_Shift_Ins	INS	-	-	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:37354511_37354512insT	ENST00000310758.4	-	4	781_782	c.134_135insA	c.(133-135)acafs	p.T45fs	ELMO1_ENST00000448602.1_Frame_Shift_Ins_p.T45fs|ELMO1_ENST00000442504.1_Frame_Shift_Ins_p.T45fs	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	45					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AATATTCATGGTTGGCAAGAGA	0.332													8	33	---	---	---	---					
OR2A12	346525	broad.mit.edu	37	7	143792483	143792483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr7:143792483delC	ENST00000408949.2	+	1	343	c.283delC	c.(283-285)ctfs	p.P95fs		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTCCTTTGCTCCTTGCATACT	0.443													17	81	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35043876	35043887	+	In_Frame_Del	DEL	GAGAAAACTCAG	GAGAAAACTCAG	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr9:35043876_35043887delGAGAAAACTCAG	ENST00000312292.5	+	2	1297_1308	c.1250_1261delGAGAAAACTCAG	c.(1249-1263)aga>a	p.RENSG417del	C9orf131_ENST00000354479.5_In_Frame_Del_p.RENSG344del|C9orf131_ENST00000421362.2_In_Frame_Del_p.RENSG369del	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	417										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGGGAATGCAGAGAAAACTCAGGAAACCTCTG	0.538													10	101	---	---	---	---					
FUBP3	8939	broad.mit.edu	37	9	133485348	133485348	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr9:133485348delC	ENST00000319725.9	+	3	273	c.198delC	c.(196-198)aafs	p.N66fs		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	66					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CAGTAGGTAACCAGTTAGGGG	0.378													25	49	---	---	---	---					
OR52N4	390072	broad.mit.edu	37	11	5776795	5776795	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:5776795delC	ENST00000317254.3	+	1	873	c.825delC	c.(823-825)tgfs	p.C275fs	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CCCCTTCTTGCCACATCATTG	0.458													13	161	---	---	---	---					
KRTAP5-10	387273	broad.mit.edu	37	11	71276873	71276874	+	Frame_Shift_Ins	INS	-	-	A	rs36179995		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:71276873_71276874insA	ENST00000398531.1	+	1	265_266	c.240_241insA	c.(238-243)tcaaggfs	p.R81fs	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	81	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTGGGGGCTCCAAAGGGGGCTG	0.683													34	265	---	---	---	---					
SCN2B	6327	broad.mit.edu	37	11	118037787	118037787	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr11:118037787delC	ENST00000278947.5	-	4	704	c.463delG	c.(463-465)acfs	p.D155fs		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	155					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		ACCGTGGAGTCCCGCTCAGGG	0.617													10	51	---	---	---	---					
PRB4	5545	broad.mit.edu	37	12	11461410	11461410	+	Frame_Shift_Del	DEL	T	T	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:11461410delT	ENST00000279575.1	-	3	540	c.507delA	c.(505-507)gafs	p.E169fs	PRB4_ENST00000535904.1_Frame_Shift_Del_p.E169fs|PRB4_ENST00000445719.2_Intron	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	232	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	GGN -> QGG (in Ref. 5; AA sequence).|Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						ACTTGTTTCCTTCCTGTGGGG	0.587										HNSCC(22;0.051)			86	393	---	---	---	---					
ZCRB1	85437	broad.mit.edu	37	12	42717844	42717844	+	Frame_Shift_Del	DEL	G	G	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:42717844delG	ENST00000266529.3	-	2	244	c.61delC	c.(61-63)tgfs	p.L21fs	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	21	RRM.				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TTGTTTGTCAGGGAAAAAGGC	0.378													21	71	---	---	---	---					
TMEM132B	114795	broad.mit.edu	37	12	126138827	126138827	+	Frame_Shift_Del	DEL	G	G	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr12:126138827delG	ENST00000299308.3	+	9	2816	c.2808delG	c.(2806-2808)cafs	p.Q936fs	TMEM132B_ENST00000535886.1_Frame_Shift_Del_p.Q448fs	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	936						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)		TGAGTGAGCAGGGCAACATCC	0.512													9	95	---	---	---	---					
SMOC1	64093	broad.mit.edu	37	14	70477560	70477561	+	Frame_Shift_Ins	INS	-	-	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr14:70477560_70477561insC	ENST00000381280.4	+	8	1007_1008	c.754_755insC	c.(754-756)cccfs	p.P252fs	SMOC1_ENST00000361956.3_Frame_Shift_Ins_p.P252fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	252	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCCTGAATGTGCCCCTGGGGGA	0.589													34	119	---	---	---	---					
KIFC3	3801	broad.mit.edu	37	16	57803530	57803530	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr16:57803530delC	ENST00000379655.4	-	9	1452	c.1195delG	c.(1195-1197)ccfs	p.A399fs	KIFC3_ENST00000540079.2_Frame_Shift_Del_p.A297fs|KIFC3_ENST00000539578.1_Frame_Shift_Del_p.A341fs|KIFC3_ENST00000445690.2_Frame_Shift_Del_p.A399fs|KIFC3_ENST00000421376.2_Frame_Shift_Del_p.A260fs|KIFC3_ENST00000541240.1_Frame_Shift_Del_p.A421fs|KIFC3_ENST00000562903.1_Frame_Shift_Del_p.A260fs|KIFC3_ENST00000543930.1_Frame_Shift_Del_p.A260fs|KIFC3_ENST00000465878.2_Frame_Shift_Del_p.A260fs	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	399					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTCCTGAGGGCCTCCTGCAGC	0.657													27	72	---	---	---	---					
DNAH9	1770	broad.mit.edu	37	17	11554601	11554601	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:11554601delC	ENST00000262442.3	+	13	2381	c.2313delC	c.(2311-2313)cgfs	p.R771fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.R771fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	771	Stem (By similarity).		R -> L (in a breast cancer sample; somatic mutation).		cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGATCTCCGCCTCAGAGCAG	0.418													21	59	---	---	---	---					
CTB-91J4.1	0	broad.mit.edu	37	17	34445618	34445619	+	RNA	INS	-	-	C	rs66867561	by1000genomes	TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr17:34445618_34445619insC	ENST00000592460.1	+	0	41																											ACTGCCCCCCACCCCCCCACCC	0.599													3	4	---	---	---	---					
CTAGE1	64693	broad.mit.edu	37	18	19995559	19995559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:19995559delA	ENST00000391403.2	-	1	2319	c.2216delT	c.(2215-2217)tcfs	p.F739fs		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	739	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGCTGGGGGGAAAAATGCAGG	0.502													18	48	---	---	---	---					
ADNP2	22850	broad.mit.edu	37	18	77895005	77895006	+	Frame_Shift_Ins	INS	-	-	T			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr18:77895005_77895006insT	ENST00000262198.4	+	4	2164_2165	c.1709_1710insT	c.(1708-1710)agtfs	p.S570fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	570					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTCAACCAGACTGTGGGCACCA	0.550													22	88	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									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)		catcaccaccaccaccatcacc	0.579													3	4	---	---	---	---					
ADAMTS1	9510	broad.mit.edu	37	21	28212020	28212020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr21:28212020delC	ENST00000284984.2	-	7	2368	c.1914delG	c.(1912-1914)ggfs	p.G638fs		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	638	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CAGGCCCACTCCCAAAGGAAG	0.458													24	100	---	---	---	---					
PFKL	5211	broad.mit.edu	37	21	45730904	45730904	+	Frame_Shift_Del	DEL	G	G	-	rs150271960		TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chr21:45730904delG	ENST00000403390.1	+	4	316	c.316delG	c.(316-318)tgfs	p.V106fs	PFKL_ENST00000349048.4_Frame_Shift_Del_p.V59fs|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	59					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGAGGGCCTCGTGGAGGGAGG	0.597													12	35	---	---	---	---					
AMER1	139285	broad.mit.edu	37	X	63411772	63411772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-99-7458-01A-11D-2036-08	TCGA-99-7458-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6135f346-7be7-4beb-bc56-50a94e439776	d8bf0172-63f7-42c6-834d-dd3a53ee3f85	g.chrX:63411772delG	ENST00000330258.3	-	2	1667	c.1395delC	c.(1393-1395)ccfs	p.P465fs	AMER1_ENST00000374869.3_Frame_Shift_Del_p.P465fs|AMER1_ENST00000403336.1_Frame_Shift_Del_p.P465fs	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CATCACTATTGGGGGCGGATT	0.547													11	68	---	---	---	---					
