Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ST18	9705	broad.mit.edu	37	8	53084745	53084745	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:53084745G>A	uc003xqz.2	-	4	832	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.H191Y|ST18_uc011lds.1_Missense_Mutation_p.H131Y|ST18_uc003xra.2_Missense_Mutation_p.H226Y|ST18_uc003xrb.2_Missense_Mutation_p.H226Y	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	226						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTTTTTTATGATCTGTTAAA	0.393000														37			22		0	0	0.012319	0	0
FAM47A	158724	broad.mit.edu	37	X	34149812	34149812	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:34149812G>A	uc004ddg.3	-	0	636	c.584C>T	c.(583-585)cCg>cTg	p.P195L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	195	Pro-rich.							p.P195L(2)|p.P195P(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATGGGACACCGGAGTCTCGGG	0.612000														21			23		0	0	0.016522	0	0
COL4A4	1286	broad.mit.edu	37	2	227872752	227872752	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:227872752G>A	uc021vxr.1	-	45	4892	c.4791C>T	c.(4789-4791)atC>atT	p.I1597I	COL4A4_uc021vxs.1_Silent_p.I1594I	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1597	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATGAATACCCGATCCAGAGGC	0.612000														17			11		0	0	0.016723	0	0
MKLN1	4289	broad.mit.edu	37	7	131060250	131060250	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:131060250C>G	uc011kpm.2	+	1	230	c.166C>G	c.(166-168)Cag>Gag	p.Q56E	MKLN1_uc011kpl.2_Missense_Mutation_p.Q33E|MKLN1_uc010lmh.2_Missense_Mutation_p.Q56E|MKLN1_uc003vqs.3_5'UTR	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	56					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CTATCCTCCCCAGGTAAGATT	0.323000														31			14		0	0	0.006122	0	0
C15orf27	123591	broad.mit.edu	37	15	76430211	76430211	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:76430211C>T	uc002bbq.3	+	2	357	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	68						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCTGTCAAATCTGGACGAAGA	0.572000														51			19		0	0	0.012319	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643088	1643088	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:1643088C>T	uc009ycy.1	-	1	218	c.131G>A	c.(130-132)gGg>gAg	p.G44E	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	139						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCATAGCCCCCCTTGGAGCC	0.667000														93			32		0	0	0.013726	0	0
C5orf42	65250	broad.mit.edu	37	5	37107844	37107844	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:37107844G>A	uc011cpa.1	-	51	9685	c.9454C>T	c.(9454-9456)Cct>Tct	p.P3152S	C5orf42_uc003jko.1_Missense_Mutation_p.P183S|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Missense_Mutation_p.P1670S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P2245S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	3152										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)			ACCCCAAAAGGATGCTCTGGC	0.483000														11			8		0	0	0.006214	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73938417	73938417	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:73938417C>T	uc003uaq.3	+	7	1416	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	GTF2IRD1_uc010lbq.3_Silent_p.F373F|GTF2IRD1_uc003uap.3_Silent_p.F341F|GTF2IRD1_uc003uar.1_Silent_p.F341F	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	341						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.A340T(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGGACGCCTTCATAAAGGAAA	0.612000														15			4		0	0	0.009096	0	0
MYLK	4638	broad.mit.edu	37	3	123385168	123385168	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:123385168G>A	uc003ego.3	-	21	4011	c.3729C>T	c.(3727-3729)ttC>ttT	p.F1243F	MYLK_uc010hrr.3_5'Flank|MYLK_uc011bjv.2_Silent_p.F43F|MYLK_uc011bjw.2_Silent_p.F1243F|MYLK_uc003egp.3_Silent_p.F1174F|MYLK_uc003egq.3_Silent_p.F1243F|MYLK_uc003egr.3_Silent_p.F1174F|MYLK_uc003egs.3_Silent_p.F1067F	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1243	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGTCCTCAGGGAACTGGATGA	0.557000														42			7		0	0	0.004482	0	0
XIST	7503	broad.mit.edu	37	X	73062381	73062381	+	RNA	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:73062381C>T	uc004ebm.1	-	0		c.10208G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCCTGCTTTTCATAGTCAACA	0.393000														7			8		0	0	0.003080	0	0
TTC3	7267	broad.mit.edu	37	21	38569994	38569994	+	Silent	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:38569994A>G	uc002yvz.3	+	42	5808	c.5703A>G	c.(5701-5703)aaA>aaG	p.K1901K	TTC3_uc002ywa.3_Silent_p.K1901K|TTC3_uc002ywb.3_Silent_p.K1901K|TTC3_uc010gnf.3_Silent_p.K1666K|TTC3_uc002ywc.3_Silent_p.K1591K	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1901	Poly-Lys.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGAAAAAGAAAAAGGTATTTT	0.294000														10			5		0	0	0.014758	0	0
SAMD9	54809	broad.mit.edu	37	7	92734480	92734480	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:92734480G>A	uc003umf.3	-	2	1201	c.931C>T	c.(931-933)Cca>Tca	p.P311S	SAMD9_uc003umg.3_Missense_Mutation_p.P311S|SAMD9_uc022ahg.1_Missense_Mutation_p.P311S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	311						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAGAACTGTGGAATAATGTCC	0.338000														33			14		0	0	0.016723	0	0
ANKRD10	55608	broad.mit.edu	37	13	111558407	111558407	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:111558407G>A	uc001vrn.3	-	2	563	c.428C>T	c.(427-429)gCc>gTc	p.A143V	ANKRD10_uc001vro.1_Missense_Mutation_p.A143V	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	Homo sapiens ankyrin repeat domain 10 (ANKRD10), mRNA.	143										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CGCCACAAGGGCACTGATGCA	0.433000														9			3		0	0	0.004672	0	0
CCDC77	84318	broad.mit.edu	37	12	539842	539842	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:539842C>T	uc001qig.3	+	6	703	c.523C>T	c.(523-525)Caa>Taa	p.Q175*	CCDC77_uc009zdk.3_Nonsense_Mutation_p.Q143*|CCDC77_uc010sdp.2_Nonsense_Mutation_p.Q143*|CCDC77_uc010sdq.2_Nonsense_Mutation_p.Q143*	NM_032358	NP_001123620	Q9BR77	CCD77_HUMAN	Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA.	175						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CACCATTCTCCAAAAGACTAT	0.378000														72			26		0	0	0.009535	0	0
LILRB3	11025	broad.mit.edu	37	19	54803734	54803734	+	Silent	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:54803734G>T	uc002qfd.3	-	2	182	c.90C>A	c.(88-90)acC>acA	p.T30T	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.T30T	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	30					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCCCAGAGGGTGGGCTTGG	0.562000														73			26		7.01153e-11	7.30787e-11	0.007291	1	0
ZBTB7C	201501	broad.mit.edu	37	18	45567077	45567077	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:45567077C>T	uc010dnv.3	-	2	904	c.468G>A	c.(466-468)ggG>ggA	p.G156G	ZBTB7C_uc002ldb.3_Silent_p.G134G|ZBTB7C_uc010dnu.3_Silent_p.G143G|ZBTB7C_uc010dnw.3_Silent_p.G134G|ZBTB7C_uc010dnx.1_Silent_p.G134G|ZBTB7C_uc010dny.1_Silent_p.G134G|ZBTB7C_uc010dnz.1_Silent_p.G156G|ZBTB7C_uc010doi.1_Silent_p.G134G|ZBTB7C_uc010doj.1_Silent_p.G143G|ZBTB7C_uc010dok.1_Silent_p.G183G|ZBTB7C_uc010dol.1_Silent_p.G143G|ZBTB7C_uc010doa.1_Silent_p.G156G|ZBTB7C_uc010dob.1_Silent_p.G134G|ZBTB7C_uc010doc.1_Silent_p.G143G|ZBTB7C_uc010dod.1_Silent_p.G156G|ZBTB7C_uc010doe.1_Silent_p.G134G|ZBTB7C_uc010dof.1_Silent_p.G134G|ZBTB7C_uc010dog.1_Silent_p.G134G|ZBTB7C_uc010doh.1_Silent_p.G143G|ZBTB7C_uc010dom.1_Silent_p.G143G|ZBTB7C_uc010don.1_Silent_p.G142G|ZBTB7C_uc010dop.1_Silent_p.G134G|ZBTB7C_uc010doq.1_Silent_p.G143G|ZBTB7C_uc010dor.1_Silent_p.G156G|ZBTB7C_uc010dos.1_Silent_p.G134G|ZBTB7C_uc010dot.1_Silent_p.G134G|ZBTB7C_uc010doo.1_Silent_p.G134G|ZBTB7C_uc010dou.1_Silent_p.G143G	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	134	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						catcctcctcccccccgtccc	0.572000														25			9		0	0	0.004482	0	0
TFAP2C	7022	broad.mit.edu	37	20	55209305	55209305	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:55209305C>T	uc002xya.3	+	4	1146	c.903C>T	c.(901-903)ctC>ctT	p.L301L	TFAP2C_uc010zzi.2_Silent_p.L132L	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	301	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ATGTGACTCTCCTGACATCCT	0.463000														31			9		0	0	0.006214	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18014191	18014191	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:18014191G>A	uc001ban.3	+	26	3292	c.3133G>A	c.(3133-3135)Gag>Aag	p.E1045K	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.E1006K|ARHGEF10L_uc001bao.3_Missense_Mutation_p.E1006K|ARHGEF10L_uc001bap.3_Missense_Mutation_p.E1001K|ARHGEF10L_uc001baq.3_Missense_Mutation_p.E806K|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.E818K|ARHGEF10L_uc001bar.3_Missense_Mutation_p.E748K|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1045					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGAGACCCTGGAGCATCTGCA	0.642000														32			5		0	0	0.014758	0	0
CLINT1	9685	broad.mit.edu	37	5	157232931	157232931	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:157232931C>T	uc003lxj.2	-	6	1090	c.885G>A	c.(883-885)ggG>ggA	p.G295G	CLINT1_uc003lxi.2_Silent_p.G277G|CLINT1_uc011ddv.2_Silent_p.G295G	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Homo sapiens clathrin interactor 1 (CLINT1), transcript variant 2, mRNA.	295					endocytosis|post-Golgi vesicle-mediated transport	Golgi apparatus|clathrin-coated vesicle|cytosol|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCTTTGTCCCCTGTGTAAT	0.448000														52			18		0	0	0.012319	0	0
PRDM1	639	broad.mit.edu	37	6	106547271	106547271	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:106547271G>A	uc003prd.2	+	3	742	c.508G>A	c.(508-510)Gag>Aag	p.E170K	PRDM1_uc003pre.3_Missense_Mutation_p.E36K	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	170	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CTCTCCCCGGGAGCAAAACCT	0.498000			"""D, N, Mis, F, S"""		DLBCL									27			16		0	0	0.004007	0	0
MSR1	4481	broad.mit.edu	37	8	16032717	16032717	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:16032717G>A	uc010lsu.3	-	2	314	c.250C>T	c.(250-252)Cct>Tct	p.P84S	MSR1_uc003wwz.3_Missense_Mutation_p.P66S|MSR1_uc003wxa.3_Missense_Mutation_p.P66S|MSR1_uc003wxb.3_Missense_Mutation_p.P66S|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	66	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCAATGAGAGGGATGAGAACT	0.413000														22			18		0	0	0.010504	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756493	94756493	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:94756493C>T	uc001yct.3	-	1	904	c.438G>A	c.(436-438)aaG>aaA	p.K146K	SERPINA10_uc001ycu.4_Silent_p.K146K	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	146					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTCTGAGTCCCTTAAAGAGGG	0.572000														62			20		0	0	0.010504	0	0
CIAO1	9391	broad.mit.edu	37	2	96934294	96934294	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:96934294G>C	uc002svs.3	+	4	794	c.589G>C	c.(589-591)Gtg>Ctg	p.V197L	TMEM127_uc002svq.3_5'Flank|TMEM127_uc002svr.3_5'Flank	NM_004804	NP_004795	O76071	CIAO1_HUMAN	Homo sapiens cytosolic iron-sulfur protein assembly 1 (CIAO1), mRNA.	197					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						TGAATCCACTGTGTGGAGCTT	0.552000														42			15		0	0	0.003163	0	0
CBL	867	broad.mit.edu	37	11	119149242	119149242	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:119149242C>A	uc001pwe.3	+	8	1388	c.1250C>A	c.(1249-1251)cCt>cAt	p.P417H		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	417	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.P417R(4)|p.P417L(3)|p.C416W(2)|p.E366_K477del(2)|p.C416Y(2)|p.P417A(2)|p.G397_I429del(2)|p.P417H(1)|p.K322_D460del(1)|p.P417S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAGGGCTGTCCTTTCTGCCGA	0.428000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					54			22		7.16444e-05	7.34425e-05	0.021523	1	0
PRKAA2	5563	broad.mit.edu	37	1	57169687	57169687	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:57169687C>T	uc001cyk.4	+	6	903	c.832C>T	c.(832-834)Cct>Tct	p.P278S		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	278					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTACTTATTTCCTGAAGACCC	0.353000														107			31		0	0	0.009535	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814685	106814685	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:106814685C>T	uc003ymd.3	+	7	2398	c.2375C>T	c.(2374-2376)cCa>cTa	p.P792L	ZFPM2_uc011lhs.2_Missense_Mutation_p.P523L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	792					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATATCTTTCCAGGAATTGTC	0.438000														9			9		0	0	0.006214	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50418224	50418224	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:50418224C>T	uc003daq.3	-	7	835	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CACNA2D2_uc003dap.3_Missense_Mutation_p.R266Q	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	266					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CTTGGGGGCTCGCCACGGGGT	0.647000														5			3		0	0	0.009096	0	0
LRIG3	121227	broad.mit.edu	37	12	59274408	59274408	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:59274408G>A	uc001sqr.3	-	12	2002	c.1756C>T	c.(1756-1758)Cac>Tac	p.H586Y	LRIG3_uc009zqh.3_Missense_Mutation_p.H526Y|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	586	Ig-like C2-type 1.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GAACCAAAGTGATTGGAGATG	0.448000			T	ROS1	NSCLC									49			17		0	0	0.010504	0	0
CEP104	9731	broad.mit.edu	37	1	3746408	3746408	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:3746408T>A	uc001aky.2	-	13	2349	c.1990A>T	c.(1990-1992)Att>Ttt	p.I664F	CEP104_uc010nzm.1_Non-coding_Transcript	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	664						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CCCTCAAAAATTGTTTTGTAG	0.438000														118			47		0	0	0.014410	0	0
WDR88	126248	broad.mit.edu	37	19	33639710	33639710	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:33639710C>T	uc002nui.3	+	4	651	c.573C>T	c.(571-573)tcC>tcT	p.S191S		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	191										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TCATCGTCTCCTGTAAGTTTT	0.468000														104			28		0	0	0.006320	0	0
KIAA0922	23240	broad.mit.edu	37	4	154510071	154510071	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:154510071C>T	uc010ipp.3	+	15	1634	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L	KIAA0922_uc003inm.4_Silent_p.L527L|KIAA0922_uc010ipq.3_Silent_p.L380L|KIAA0922_uc010ips.1_3'UTR	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	527						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)				GAGCCTTTCTCTGGATCAATC	0.343000														24			9		0	0	0.008291	0	0
SSPO	23145	broad.mit.edu	37	7	149511897	149511897	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:149511897C>T	uc010lpk.3	+	73	10438	c.10438C>T	c.(10438-10440)Ccc>Tcc	p.P3480S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3483	TSP type-1 14.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCATGGTCTCCCTGCGACAT	0.697000														3			4		0	0	0.014758	0	0
ADAM7	8756	broad.mit.edu	37	8	24304749	24304749	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:24304749C>T	uc003xeb.3	+	2	320	c.207C>T	c.(205-207)acC>acT	p.T69T	ADAM7_uc003xea.1_Silent_p.T69T	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	69					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATAGAAAAACCTTAGTCCTTC	0.328000														25			15		0	0	0.020292	0	0
VPS13B	157680	broad.mit.edu	37	8	100887878	100887879	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:100887878_100887879GG>AA	uc003yiv.3	+	61	12164_12165	c.12053_12054GG>AA	c.(12052-12054)agg>aAA	p.R4018K	VPS13B_uc003yiw.3_Missense_Mutation_p.R3993K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	4018					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)			AAAGCCCTGAGGAAAGGGTTTC	0.446000														53			13		0	0	0.004672	0	0
SAMD9	54809	broad.mit.edu	37	7	92731787	92731787	+	Silent	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:92731787G>T	uc003umf.3	-	2	3894	c.3624C>A	c.(3622-3624)atC>atA	p.I1208I	SAMD9_uc003umg.3_Silent_p.I1208I|SAMD9_uc022ahg.1_Silent_p.I1208I	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1208						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGAGAATTTGGATTGTGTAAA	0.348000														50			20		7.45023e-12	7.78373e-12	0.010504	1	0
OR2T6	254879	broad.mit.edu	37	1	248551338	248551338	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:248551338G>A	uc001iei.1	+	0	429	c.429G>A	c.(427-429)atG>atA	p.M143I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTGCTGGATGATCCTGGCCA	0.562000														52			8		0	0	0.006214	0	0
ANP32C	23520	broad.mit.edu	37	4	165118842	165118842	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:165118842G>A	uc011cjk.2	-	0	22	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	8										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		AGCTCTGAATGAATCCGTCTG	0.542000														73			25		0	0	0.005443	0	0
VPS13A	23230	broad.mit.edu	37	9	79824434	79824434	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:79824434C>T	uc004akr.3	+	5	741	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	VPS13A_uc004akp.4_Missense_Mutation_p.R161C|VPS13A_uc004akq.4_Missense_Mutation_p.R161C|VPS13A_uc004aks.3_Missense_Mutation_p.R161C	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	161			R -> H (in a colorectal cancer sample; somatic mutation).		Golgi to endosome transport|protein transport	intracellular	protein binding	p.R161H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCCATATTCGTTATGAAGA	0.274000														6			5		0	0	0.014758	0	0
NCAPH2	29781	broad.mit.edu	37	22	50957150	50957150	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:50957150C>T	uc003blx.4	+	7	841	c.719C>T	c.(718-720)tCc>tTc	p.S240F	NCAPH2_uc003blq.4_Missense_Mutation_p.S240F|NCAPH2_uc003blv.3_Missense_Mutation_p.S240F|NCAPH2_uc003blr.4_Missense_Mutation_p.S240F	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	240					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CTCGGCTTCTCCCAGGAGCCA	0.642000														6			6		0	0	0.003080	0	0
DBC1	1620	broad.mit.edu	37	9	121929907	121929907	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:121929907C>A	uc004bkc.2	-	7	2197	c.1741G>T	c.(1741-1743)Gaa>Taa	p.E581*		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	581					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TAGCCAAATTCCCCGAAGGGC	0.537000														76			25		4.87955e-14	5.10206e-14	0.005443	1	0
ATP7A	538	broad.mit.edu	37	X	77301936	77301936	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:77301936A>G	uc004ecx.4	+	22	4532	c.4372A>G	c.(4372-4374)Aat>Gat	p.N1458D		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1458					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CCGGATTGTTAATTATAGCAG	0.443000														51			75		0	0	0.014410	0	0
TRIML1	339976	broad.mit.edu	37	4	189063465	189063465	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:189063465C>T	uc003izm.1	+	2	679	c.564C>T	c.(562-564)ttC>ttT	p.F188F	TRIML1_uc003izn.1_5'Flank	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	188					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGCACCAGTTCCTGAAGGAAG	0.443000														42			18		0	0	0.007413	0	0
RHO	6010	broad.mit.edu	37	3	129247891	129247891	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:129247891C>T	uc003emt.3	+	0	410	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	105					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ACTTCGTCTTCGGGCCCACAG	0.597000														87			35		0	0	0.021022	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41018861	41018861	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:41018861G>A	uc003jmj.4	-	25	3095	c.2605C>T	c.(2605-2607)Cta>Tta	p.L869L	HEATR7B2_uc003jmi.4_Silent_p.L424L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	869							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGTTTTCCTAGGGCGTCCATG	0.453000														70			12		0	0	0.013537	0	0
ITGA8	8516	broad.mit.edu	37	10	15697376	15697376	+	Silent	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:15697376G>T	uc001ioc.1	-	10	978	c.978C>A	c.(976-978)gtC>gtA	p.V326V	ITGA8_uc010qcb.1_Silent_p.V311V	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	326					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATCTGATACGACAACGGTAT	0.318000														47			4		0.00024832	0.000254353	0.009096	1	0
OXTR	5021	broad.mit.edu	37	3	8794707	8794707	+	Missense_Mutation	SNP	G	A	A	rs35062132	by1000genomes	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:8794707G>A	uc003brc.3	-	3	1748	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	376					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	p.R376H(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CTGGAGCTGCGATGGCTCAGG	0.642000														27			11		0	0	0.008291	0	0
OR4K2	390431	broad.mit.edu	37	14	20345185	20345185	+	Silent	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:20345185A>G	uc001vwh.1	+	0	759	c.759A>G	c.(757-759)ccA>ccG	p.P253P		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTTGGGCCATGCATCTTCA	0.418000														71			22		0	0	0.014323	0	0
AMPD1	270	broad.mit.edu	37	1	115229518	115229518	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:115229518G>A	uc001efe.2	-	3	376	c.328C>T	c.(328-330)Caa>Taa	p.Q110*	AMPD1_uc001eff.2_Nonsense_Mutation_p.Q106*	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	77					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTCCGTCCTTGGAAACGCTTT	0.358000														46			13		0	0	0.003163	0	0
UBXN2A	165324	broad.mit.edu	37	2	24199943	24199943	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:24199943G>A	uc010exy.3	+	4	753	c.285G>A	c.(283-285)aaG>aaA	p.K95K	UBXN2A_uc002rem.3_Non-coding_Transcript|UBXN2A_uc002ren.3_Silent_p.K95K|UBXN2A_uc010ykj.2_Silent_p.K95K	NM_181713	NP_859064	P68543	UBX2A_HUMAN	Homo sapiens UBX domain protein 2A (UBXN2A), mRNA.	95	SEP.									endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						CCATCAAAAAGGGGTGAGTAg	0.473000														30			12		0	0	0.010729	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153309724	153309724	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:153309724G>A	uc001fbo.3	-	7	941	c.876C>T	c.(874-876)gtC>gtT	p.V292V	PGLYRP4_uc001fbp.3_Silent_p.V288V	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	292					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGCCTTGGACATTCCAGC	0.547000														41			7		0	0	0.001984	0	0
KIF1B	23095	broad.mit.edu	37	1	10434391	10434391	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:10434391C>T	uc001aqx.4	+	45	5166	c.4964C>T	c.(4963-4965)tCc>tTc	p.S1655F	KIF1B_uc001aqw.4_Missense_Mutation_p.S1609F|KIF1B_uc001aqy.3_Missense_Mutation_p.S1629F|KIF1B_uc001aqz.3_Missense_Mutation_p.S1655F|KIF1B_uc001ara.3_Missense_Mutation_p.S1615F|KIF1B_uc001arb.3_Missense_Mutation_p.S1641F	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1655					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAAGCCAATTCCCGGGCCTCT	0.433000														237			67		0	0	0.014410	0	0
CACNA1F	778	broad.mit.edu	37	X	49063311	49063311	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:49063311G>A	uc004dnb.3	-	44	5332	c.5270C>T	c.(5269-5271)tCc>tTc	p.S1757F	CACNA1F_uc010nip.3_Missense_Mutation_p.S1746F	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1757					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATCTAGGTAGGAAAGCCTGTG	0.632000														7			17		0	0	0.008871	0	0
PDE6A	5145	broad.mit.edu	37	5	149314188	149314188	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:149314188C>T	uc003lrg.4	-	1	688	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	PDE6A_uc021yfs.1_Intron	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	190	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.A190V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATGATTATGGCCACCACATCC	0.448000														97			22		0	0	0.016522	0	0
CACNA1B	774	broad.mit.edu	37	9	140991040	140991040	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:140991040G>A	uc004cog.3	+	35	5338	c.5193G>A	c.(5191-5193)tgG>tgA	p.W1731*	CACNA1B_uc022bqn.1_Nonsense_Mutation_p.W1731*|CACNA1B_uc004coi.3_Nonsense_Mutation_p.W945*|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1733	EF-hand.				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)	TCCGGGTCTGGGCTGAATACG	0.562000														49			11		0	0	0.008291	0	0
PICK1	9463	broad.mit.edu	37	22	38461067	38461067	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:38461067C>T	uc003auq.3	+	3	602	c.212C>T	c.(211-213)aCc>aTc	p.T71I	PICK1_uc003aur.3_Missense_Mutation_p.T71I|PICK1_uc003aus.3_Missense_Mutation_p.T71I|PICK1_uc003aut.3_Missense_Mutation_p.T71I	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	71	PDZ.				DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GATGAGATCACCGGTGTCAAT	0.557000														63			21		0	0	0.010504	0	0
MUT	4594	broad.mit.edu	37	6	49403220	49403220	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:49403220G>A	uc003ozg.4	-	11	2338	c.2073C>T	c.(2071-2073)tcC>tcT	p.S691S		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	691	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCGTCCAAGGGAGTTAAGTT	0.468000														26			18		0	0	0.012319	0	0
OR5M1	390168	broad.mit.edu	37	11	56380060	56380060	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:56380060C>T	uc001nja.1	-	0	919	c.919G>A	c.(919-921)Gga>Aga	p.G307R	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGGATTTTCCCCTAATCATT	0.378000														34			12		0	0	0.016723	0	0
MBL2	4153	broad.mit.edu	37	10	54530513	54530513	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:54530513C>T	uc001jjt.3	-	1	286	c.221G>A	c.(220-222)gGa>gAa	p.G74E		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	74	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCCCAACTTTCCAGGGGGGCC	0.522000														82			24		0	0	0.004656	0	0
EZH2	2146	broad.mit.edu	37	7	148508726	148508727	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:148508726_148508727GT>AA	uc003wfd.2	-	15	2115_2116	c.1922_1923AC>TT	c.(1921-1923)tac>tTT	p.Y641F	EZH2_uc022aov.1_Missense_Mutation_p.Y560F|EZH2_uc011kug.2_Missense_Mutation_p.Y590F|EZH2_uc003wfb.2_Missense_Mutation_p.Y646F|EZH2_uc003wfc.2_Missense_Mutation_p.Y602F|EZH2_uc011kuh.2_Missense_Mutation_p.Y632F	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	641	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.Y646F(59)|p.Y646S(22)|p.Y602F(8)|p.Y646C(6)|p.Y602S(4)|p.N640K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CCTCTCCACAGTATTCTGAGAT	0.376000			Mis		DLBCL									32			8		0	0	0.004672	0	0
PWP2	5822	broad.mit.edu	37	21	45535741	45535741	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:45535741G>A	uc002zeb.3	+	6	866	c.776G>A	c.(775-777)gGa>gAa	p.G259E		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	259						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ACCATCCGGGGAAAAGCCACT	0.632000														12			6		0	0	0.001168	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948507	82948507	+	Silent	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:82948507A>G	uc003kim.3	-	1	308	c.237T>C	c.(235-237)atT>atC	p.I79I	HAPLN1_uc003kin.3_Silent_p.I79I	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	79	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TGGTCCACTTAATTCGGATTT	0.428000														113			32		0	0	0.006230	0	0
NDUFS1	4719	broad.mit.edu	37	2	207009641	207009641	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:207009641C>T	uc010ziq.2	-	8	950	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	NDUFS1_uc002vbe.3_Missense_Mutation_p.E283K|NDUFS1_uc010zir.2_Missense_Mutation_p.E247K|NDUFS1_uc010zis.2_Missense_Mutation_p.E226K|NDUFS1_uc010zit.2_Missense_Mutation_p.E172K|NDUFS1_uc010ziu.2_Missense_Mutation_p.E167K	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	283					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ATCCACTCTTCATTGATGTCC	0.328000														37			16		0	0	0.004007	0	0
SDHC	6391	broad.mit.edu	37	1	161310395	161310395	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:161310395C>T	uc001gag.3	+	3	221	c.191C>T	c.(190-192)cCc>cTc	p.P64L	SDHC_uc001gah.3_Missense_Mutation_p.P30L|SDHC_uc001gai.3_Missense_Mutation_p.P64L|SDHC_uc001gaj.3_Missense_Mutation_p.P11L|SDHC_uc001gak.3_Missense_Mutation_p.P30L	NM_003001	NP_002992	Q99643	C560_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	64					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TGGTCTCTTCCCATGGCGATG	0.373000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome					232			8		0	0	0.006214	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136712	40136712	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:40136712G>A	uc021qgf.1	-	0	1131	c.1131C>T	c.(1129-1131)gcC>gcT	p.A377A	LRRC4C_uc001mxc.1_Silent_p.A373A|LRRC4C_uc001mxd.1_Silent_p.A373A|LRRC4C_uc001mxa.1_Silent_p.A377A|LRRC4C_uc001mxb.1_Silent_p.A373A	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	377	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGATGTGGAGGCCCGACATT	0.512000														45			26		0	0	0.021523	0	0
PPIG	9360	broad.mit.edu	37	2	170470973	170470973	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:170470973G>A	uc002uez.3	+	8	598	c.378_splice	c.e8-1	p.I126_splice	PPIG_uc010fpx.3_Splice_Site_p.I111_splice|PPIG_uc010fpy.3_Splice_Site_p.I122_splice|PPIG_uc002ufa.3_Splice_Site_p.I126_splice|PPIG_uc002ufb.3_Splice_Site_p.I126_splice|PPIG_uc002ufc.1_Splice_Site_p.I126_splice|PPIG_uc002ufd.3_Splice_Site_p.I126_splice	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	126	PPIase cyclophilin-type.				RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATTTCCAAAAGAACAACGAAA	0.244000														45			20		0	0	0.018920	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136302870	136302870	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:136302870G>A	uc004cdv.4	+	13	1880	c.1436_splice	c.e13-1	p.G479_splice	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Splice_Site_p.G479_splice|ADAMTS13_uc004cdu.1_Splice_Site_p.G448_splice|ADAMTS13_uc004cdw.4_Splice_Site_p.G479_splice|ADAMTS13_uc004cdx.4_Splice_Site_p.G448_splice|ADAMTS13_uc004cdy.1_Splice_Site|ADAMTS13_uc004cdz.4_Splice_Site_p.G149_splice|ADAMTS13_uc004cdr.1_Splice_Site|ADAMTS13_uc004cds.1_Intron	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	479					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCCTCCCAGGGGATGCTCTGT	0.607000														43			7		0	0	0.003080	0	0
WTIP	126374	broad.mit.edu	37	19	34985514	34985514	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:34985514C>T	uc002nvm.3	+	5	1055	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F		NM_001080436	NP_001073905			Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA.											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AAATGCGCCTCCTGTGCCCGT	0.577000														23			6		0	0	0.003080	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773559	145773559	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:145773559G>A	uc003zds.1	-	5	1466	c.911C>T	c.(910-912)cCg>cTg	p.P304L	ARHGAP39_uc011llk.1_Missense_Mutation_p.P304L|ARHGAP39_uc003zdt.1_Missense_Mutation_p.P304L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	304	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCATAGCGCGGGGAGGAGGG	0.687000														35			24		0	0	0.005443	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59899378	59899378	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:59899378G>A	uc003jsh.3	-	8	1155	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	DEPDC1B_uc011cqm.2_Missense_Mutation_p.S361F|DEPDC1B_uc011cqn.2_Missense_Mutation_p.S334F	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	Homo sapiens DEP domain containing 1B (DEPDC1B), transcript variant 1, mRNA.	361	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GATGCAACGGGAAAATGTCTG	0.403000														32			10		0	0	0.013537	0	0
BPIFA3	128861	broad.mit.edu	37	20	31805385	31805385	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:31805385C>T	uc002wyr.3	+	0	251	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	BPIFA3_uc002wys.3_Silent_p.L15L	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.	15						extracellular region	lipid binding										CCTCGGGTTGCTGGCCTTGCC	0.597000														60			13		0	0	0.020292	0	0
ABCA13	154664	broad.mit.edu	37	7	48450268	48450268	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:48450268G>A	uc003toq.2	+	39	12246	c.12222G>A	c.(12220-12222)acG>acA	p.T4074T	ABCA13_uc010kys.1_Silent_p.T1148T|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4074	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGACACTCACGAGGCAGGTAA	0.552000														151			51		0	0	0.014410	0	0
KALRN	8997	broad.mit.edu	37	3	124390670	124390670	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:124390670C>T	uc003ehg.3	+	47	6991	c.6864C>T	c.(6862-6864)ccC>ccT	p.P2288P	KALRN_uc003ehi.3_Silent_p.P629P|KALRN_uc003ehk.3_Silent_p.P591P|KALRN_uc011bjz.2_Silent_p.P380P	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2287					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTCTGCCTCCCCTGAAGATAT	0.577000														77			35		0	0	0.013726	0	0
IFNAR2	3455	broad.mit.edu	37	21	34621083	34621083	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:34621083C>T	uc002yrd.3	+	5	792	c.464C>T	c.(463-465)cCa>cTa	p.P155L	IFNAR2_uc002yrb.3_Missense_Mutation_p.P155L|IFNAR2_uc002yrc.3_Missense_Mutation_p.P155L|IFNAR2_uc002yre.3_Missense_Mutation_p.P155L|IFNAR2_uc002yrf.3_Missense_Mutation_p.P155L|IFNAR2_uc002yri.1_5'UTR|IFNAR2_uc002yrh.1_Missense_Mutation_p.P5L	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	155					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GTGAAATTTCCATCTATTGTT	0.363000														88			29		0	0	0.010818	0	0
ZNF589	51385	broad.mit.edu	37	3	48310173	48310173	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:48310173C>T	uc003csl.4	+	3	1058	c.992C>T	c.(991-993)tCg>tTg	p.S331L	ZNF589_uc010hjt.2_Missense_Mutation_p.S328L|ZNF589_uc003csn.3_Non-coding_Transcript|ZNF589_uc011bbg.2_Intron|ZNF589_uc003csm.3_Intron	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	Homo sapiens zinc finger protein 589 (ZNF589), mRNA.	331					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGAGAAATCGTTTATGTGC	0.502000														81			28		0	0	0.008361	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103573827	103573827	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:103573827A>T	uc001ymk.3	+	7	1724	c.1648A>T	c.(1648-1650)Aag>Tag	p.K550*		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	550										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCTCATGGACAAGGTGGTGAC	0.667000														38			9		0	0	0.008291	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596803	142596803	+	Silent	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:142596803T>C	uc004fbw.3	-	1	355	c.267A>G	c.(265-267)gtA>gtG	p.V89V		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	89			V -> I (in dbSNP:rs5953851).							endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATAAGTCTACGCCTTCGT	0.438000														19			31		0	0	0.010818	0	0
RHBDD1	84236	broad.mit.edu	37	2	227860179	227860179	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:227860179T>C	uc021vxo.1	+	8	1413	c.889T>C	c.(889-891)Ttt>Ctt	p.F297L	RHBDD1_uc002voi.3_Missense_Mutation_p.F297L|RHBDD1_uc010fxc.3_3'UTR|RHBDD1_uc002voj.3_Missense_Mutation_p.F128L|RHBDD1_uc021vxq.1_Non-coding_Transcript	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	297						integral to membrane	serine-type endopeptidase activity	p.G296R(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		ACCCTACGGGTTTCATCTCTC	0.458000														19			8		0	0	0.004482	0	0
FAM171A1	221061	broad.mit.edu	37	10	15296731	15296731	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:15296731C>T	uc001iob.3	-	3	573	c.566G>A	c.(565-567)gGa>gAa	p.G189E		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	189						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGTTCCATTTCCGTCTAATCC	0.463000														37			14		0	0	0.020292	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600726	147600726	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:147600726C>T	uc003weu.2	+	13	2684	c.2168C>T	c.(2167-2169)cCt>cTt	p.P723L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	723	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCTCTGGGCCTGGAATCCAG	0.512000										HNSCC(39;0.1)				26			10		0	0	0.010729	0	0
SEPT14	346288	broad.mit.edu	37	7	55912390	55912390	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:55912390G>A	uc003tqz.2	-	3	314	c.197C>T	c.(196-198)tCg>tTg	p.S66L		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	66					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATCAGTGTCGATTTTCCAAT	0.358000														30			16		0	0	0.004990	0	0
TRIM58	25893	broad.mit.edu	37	1	248039784	248039784	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:248039784A>T	uc001ido.3	+	5	1502	c.1454A>T	c.(1453-1455)cAt>cTt	p.H485L	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	485						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGAGATGATCATCTCTAAAAT	0.438000														38			9		0	0	0.004482	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720207	140720207	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:140720207G>A	uc003ljk.2	+	0	1854	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D557N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	559	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCAGAACGACAACGCGCC	0.617000														267			49		0	0	0.014410	0	0
PPRC1	23082	broad.mit.edu	37	10	103898705	103898705	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:103898705G>T	uc001kum.3	+	3	598	c.559G>T	c.(559-561)Ggg>Tgg	p.G187W	PPRC1_uc001kun.3_Missense_Mutation_p.G67W|PPRC1_uc010qqj.2_Missense_Mutation_p.G187W|PPRC1_uc009xxa.3_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding	p.G187R(2)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGACCCACTGGGGCCCAGTAC	0.572000														46			17		2.35188e-11	2.45324e-11	0.006122	1	0
DSP	1832	broad.mit.edu	37	6	7580938	7580938	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:7580938G>A	uc003mxp.1	+	22	4794	c.4515G>A	c.(4513-4515)gcG>gcA	p.A1505A	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1505	Central fibrous rod domain.		A -> V.		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGAAAACGCGAGATTACAAA	0.433000														52			34		0	0	0.017118	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33060732	33060732	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:33060732C>T	uc001bvn.3	+	3	1386	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F	ZBTB8A_uc001bvk.3_Non-coding_Transcript|ZBTB8A_uc001bvm.3_Missense_Mutation_p.L301F	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	Homo sapiens zinc finger and BTB domain containing 8A (ZBTB8A), mRNA.	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AAAGCGCCACCTTCGTTGTCA	0.468000														62			15		0	0	0.003163	0	0
AKAP9	10142	broad.mit.edu	37	7	91651606	91651607	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:91651606_91651607CC>TT	uc003ulg.3	+	12	4117_4118	c.3892_3893CC>TT	c.(3892-3894)cca>TTa	p.P1298L	AKAP9_uc003ule.2_Missense_Mutation_p.P1310L|AKAP9_uc003ulf.3_Missense_Mutation_p.P1298L|AKAP9_uc003uli.3_Missense_Mutation_p.P923L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1310					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAAACCTTCCAAAAGAGGAA	0.342000			T	BRAF	papillary thyroid									57			18		0	0	0.004672	0	0
TIMP3	7078	broad.mit.edu	37	22	33253291	33253291	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:33253291C>T	uc003anb.3	+	2	1446	c.260C>T	c.(259-261)tCc>tTc	p.S87F	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	87	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						ACGGAAGCTTCCGAGAGTCTC	0.512000														84			25		0	0	0.010818	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54669124	54669124	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:54669124C>T	uc003xrl.3	-	11	1420	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q	ATP6V1H_uc003xrk.3_Missense_Mutation_p.R383Q|ATP6V1H_uc003xrm.3_Missense_Mutation_p.R423Q|ATP6V1H_uc003xrn.3_Missense_Mutation_p.R405Q|ATP6V1H_uc011ldv.2_Missense_Mutation_p.R343Q|ATP6V1H_uc010lyd.3_Missense_Mutation_p.R359Q	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (ATP6V1H), transcript variant 3, mRNA.	423					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CCGTTTGCCTCGTGGATAATG	0.393000														19			11		0	0	0.010729	0	0
TPPP3	51673	broad.mit.edu	37	16	67424844	67424844	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:67424844G>A	uc002etb.3	-	1	316	c.171C>T	c.(169-171)atC>atT	p.I57I	TPPP3_uc002esz.3_Silent_p.I57I|TPPP3_uc002eta.3_Silent_p.I57I|U1_uc021tkb.1_5'Flank	NM_015964	NP_057224	Q9BW30	TPPP3_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.	57					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TGGAGAAGACGATGTCCACAT	0.577000														26			10		0	0	0.010729	0	0
IKZF1	10320	broad.mit.edu	37	7	50444296	50444296	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:50444296G>A	uc003tow.4	+	3	381	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	IKZF1_uc022acq.1_Missense_Mutation_p.E76K|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Intron|IKZF1_uc003tox.4_Missense_Mutation_p.E76K|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Intron|IKZF1_uc022acx.1_Missense_Mutation_p.E76K|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Intron|IKZF1_uc003toy.4_Missense_Mutation_p.E76K|IKZF1_uc003toz.4_Missense_Mutation_p.E46K|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	76					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AATGAATGGGGAAGAATGTGC	0.498000			"""D,T"""	BCL6	"""ALL, DLBCL"""									60			23		0	0	0.014323	0	0
ESPN	83715	broad.mit.edu	37	1	6505809	6505809	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:6505809G>A	uc001amy.3	+	6	1446	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	ESPN_uc001amz.3_5'Flank	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	426					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCACGATTGGGAAGcccacac	0.687000														12			8		0	0	0.003080	0	0
LPIN3	64900	broad.mit.edu	37	20	39986017	39986017	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:39986017C>T	uc010ggh.3	+	15	2063	c.1972C>T	c.(1972-1974)Cat>Tat	p.H658Y	LPIN3_uc002xjx.3_Missense_Mutation_p.H657Y|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	657	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGCTCTGGGCCATATCCTGCC	0.612000														60			19		0	0	0.010504	0	0
GABRQ	55879	broad.mit.edu	37	X	151821087	151821087	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:151821087C>T	uc004ffp.1	+	8	1262	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	414						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CGGAAAGCCTCGGTTCTTTGA	0.632000														17			26		0	0	0.021523	0	0
CACNA1A	773	broad.mit.edu	37	19	13365963	13365963	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:13365963G>A	uc002mwy.3	-	28	4937	c.4701C>T	c.(4699-4701)ttC>ttT	p.F1567F	CACNA1A_uc002mwx.3_Silent_p.F273F|CACNA1A_uc010dzc.2_Silent_p.F1093F|CACNA1A_uc010xnd.2_Silent_p.F1570F|CACNA1A_uc021ups.1_Silent_p.F1567F|CACNA1A_uc010xne.2_Silent_p.F1570F|CACNA1A_uc010dze.2_Silent_p.F1567F|CACNA1A_uc021upt.1_Silent_p.F1568F|CACNA1A_uc002mwv.3_Silent_p.F84F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1568					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCGTGTACTCGAAAGGCGGAG	0.572000														24			26		0	0	0.008361	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093018	43093018	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:43093018C>T	uc002oud.2	-	3	978	c.876G>A	c.(874-876)aaG>aaA	p.K292K	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	292	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				ATCCGCTGTTCTTTGTAGTGA	0.512000														65			31		0	0	0.007291	0	0
ZNF536	9745	broad.mit.edu	37	19	31040061	31040061	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:31040061G>A	uc002nsu.1	+	3	3673	c.3535G>A	c.(3535-3537)Gat>Aat	p.D1179N	ZNF536_uc010edd.1_Missense_Mutation_p.D1179N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D1179N(2)		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)					GGAGAACAACGATGAAGAGGA	0.557000														50			18		0	0	0.008871	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726477	168726477	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:168726477G>A	uc021vsc.1	+	0	928	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	B3GALT1_uc002udz.1_Missense_Mutation_p.E310K	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	310					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTCTCCAGAAGAAATGCACAG	0.378000														36			6		0	0	0.001168	0	0
FBXL19	54620	broad.mit.edu	37	16	30958127	30958127	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:30958127C>T	uc002eab.2	+	9	1922	c.1764C>T	c.(1762-1764)tcC>tcT	p.S588S	FBXL19_uc002dzz.1_Silent_p.S276S|FBXL19_uc002eaa.1_Silent_p.S487S|ORAI3_uc002eac.3_5'Flank	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.	588							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAGATGCCTCCCTGCGTCTCC	0.672000														18			6		0	0	0.001168	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846775	72846775	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:72846775G>A	uc002jlt.1	-	4	1401	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Silent_p.I415I|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	415					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGCTCTCCACGATGACAAAGG	0.652000														88			13		0	0	0.016723	0	0
NOTCH4	4855	broad.mit.edu	37	6	32182030	32182030	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:32182030G>A	uc003obb.3	-	12	2163	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	675	EGF-like 17.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACACATGAGGATCTGGTTGT	0.577000														480			128		0	0	0.014410	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073303	17073303	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:17073303G>A	uc002zlp.1	-	0	398	c.138C>T	c.(136-138)gtC>gtT	p.V46V		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	46					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAGGCCGGATGACACTGGCCA	0.642000														68			20		0	0	0.012319	0	0
ODZ3	55714	broad.mit.edu	37	4	183651436	183651436	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:183651436C>T	uc003ivd.1	+	13	2744	c.2669C>T	c.(2668-2670)cCa>cTa	p.P890L	ODZ3_uc003ive.1_Missense_Mutation_p.P296L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	890					signal transduction	integral to membrane		p.P890Q(4)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTCCATTACCCAGAATATGGA	0.418000														56			21		0	0	0.012319	0	0
PSG2	5670	broad.mit.edu	37	19	43575951	43575951	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:43575951G>A	uc002ovr.3	-	3	1037	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	289	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTAATTTGGGGGATAAACAGA	0.458000														122			31		0	0	0.009535	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591849	70591849	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:70591849C>T	uc003xyl.3	-	7	2495	c.1788G>A	c.(1786-1788)cgG>cgA	p.R596R	SLCO5A1_uc010lzb.3_Silent_p.R541R|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.R596R	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	596	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTGTATAATTCCGTATCTAAG	0.413000														130			37		0	0	0.007835	0	0
USHBP1	83878	broad.mit.edu	37	19	17373418	17373418	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:17373418G>A	uc002nfs.1	-	3	698	c.585C>T	c.(583-585)gtC>gtT	p.V195V	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.V131V|USHBP1_uc010eam.1_Silent_p.V123V	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	195							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCTGCGTGCGGACCAGCTCAT	0.657000														25			41		0	0	0.014410	0	0
FBXO42	54455	broad.mit.edu	37	1	16577615	16577615	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:16577615G>A	uc001ayg.3	-	9	1920	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S	FBXO42_uc001ayf.3_Silent_p.S475S	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	568										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AGGGGCCTTTGGAGGACATCG	0.617000														41			24		0	0	0.016522	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571302	155571302	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:155571302A>T	uc003fan.4	-	0	947	c.485T>A	c.(484-486)gTg>gAg	p.V162E	SLC33A1_uc003fao.2_Missense_Mutation_p.V162E	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	162					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAAACGGTCCACCTGAGTGGA	0.473000														43			21		0	0	0.008871	0	0
ZNF268	10795	broad.mit.edu	37	12	133779306	133779306	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:133779306C>T	uc010tch.2	+	5	1240	c.1034C>T	c.(1033-1035)tCa>tTa	p.S345L	ZNF268_uc010tbv.1_Missense_Mutation_p.S184L|ZNF268_uc010tbz.1_Missense_Mutation_p.S184L|ZNF268_uc010tcc.1_Missense_Mutation_p.S184L|ZNF268_uc010tcd.1_Missense_Mutation_p.S184L|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcf.2_Missense_Mutation_p.S345L|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc021rgu.1_Missense_Mutation_p.S262L	NM_001165881	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA.	345						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGTTTCCATTCACAGCTTGTT	0.398000														8			7		0	0	0.001984	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043181	71043181	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:71043181G>A	uc002shf.3	-	3	1409	c.1332C>T	c.(1330-1332)cgC>cgT	p.R444R	CLEC4F_uc010yqv.1_Silent_p.R444R	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	444					endocytosis	integral to membrane	receptor activity|sugar binding	p.R444H(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GGGTCTTCAGGCGACTCTGCT	0.522000														45			15		0	0	0.003163	0	0
SEC16A	9919	broad.mit.edu	37	9	139371356	139371356	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:139371356G>A	uc004chx.3	-	2	1021	c.712C>T	c.(712-714)Ccc>Tcc	p.P238S	SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.P238S|SEC16A_uc010nbn.3_Missense_Mutation_p.P238S|SEC16A_uc010nbo.1_Missense_Mutation_p.P238S	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	60					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACCCCGCTGGGAACAGGTCCT	0.657000														23			7		0	0	0.003080	0	0
CYP4B1	1580	broad.mit.edu	37	1	47264785	47264785	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:47264785C>T	uc001cqn.4	+	0	116	c.32C>T	c.(31-33)tCc>tTc	p.S11F	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.S11F|CYP4B1_uc009vym.3_Missense_Mutation_p.S11F|CYP4B1_uc010omk.2_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	11					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTGAGCTTCTCCTCCTTGGGC	0.567000														11			6		0	0	0.001168	0	0
HYDIN	54768	broad.mit.edu	37	16	70867977	70867977	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:70867977G>A	uc002ezr.3	-	78	13640	c.13489C>T	c.(13489-13491)Cct>Tct	p.P4497S	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4498										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGAAGGGAGGGACACGCTTC	0.557000														32			6		0	0	0.001984	0	0
RBM6	10180	broad.mit.edu	37	3	50097165	50097165	+	Silent	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:50097165C>A	uc003cyc.3	+	10	2462	c.2214C>A	c.(2212-2214)gcC>gcA	p.A738A	RBM6_uc010hlc.2_Silent_p.A257A|RBM6_uc003cyd.3_Silent_p.A216A|RBM6_uc011bdi.2_Silent_p.A80A|RBM6_uc003cye.3_Silent_p.A216A|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	738					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TAAACCTGGCCACTGGAAAAC	0.468000														43			20		1.28384e-07	1.32857e-07	0.012319	1	0
ITGA9	3680	broad.mit.edu	37	3	37725427	37725427	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:37725427A>G	uc003chd.3	+	17	2041	c.1988A>G	c.(1987-1989)aAc>aGc	p.N663S		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	663					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCTATCTCCAACCTCGGAGAT	0.458000														40			16		0	0	0.004007	0	0
VEGFC	7424	broad.mit.edu	37	4	177650815	177650815	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:177650815C>T	uc003ius.1	-	1	663	c.233G>A	c.(232-234)tGg>tAg	p.W78*		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	78					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GTACATTTTCCAATATTCTGG	0.428000														17			4		0	0	0.009096	0	0
HGF	3082	broad.mit.edu	37	7	81372669	81372669	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:81372669C>T	uc003uhl.3	-	7	1030	c.865_splice	c.e7+1	p.A289_splice	HGF_uc003uhm.3_Splice_Site_p.A284_splice|HGF_uc003uhn.1_Splice_Site_p.E289_splice|HGF_uc003uho.1_Splice_Site_p.E284_splice	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	289					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTTCACTTACCGCATGTTTTA	0.448000														23			9		0	0	0.004482	0	0
VTCN1	79679	broad.mit.edu	37	1	117695749	117695749	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:117695749C>T	uc001ehb.3	-	3	793	c.688G>A	c.(688-690)Gac>Aac	p.D230N	VTCN1_uc021osn.1_Missense_Mutation_p.D135N|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Missense_Mutation_p.D135N|VTCN1_uc009whf.2_Missense_Mutation_p.D114N	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	230	Ig-like V-type 2.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TTGGCAATGTCATTTTCAATC	0.388000														58			18		0	0	0.016522	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587399	15587399	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:15587399C>T	uc002nbg.3	-	1	215	c.82G>A	c.(82-84)Gac>Aac	p.D28N	PGLYRP2_uc002nbf.4_Missense_Mutation_p.D28N	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	28					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						ATGACAGAGTCCATGAGCAGG	0.567000														14			7		0	0	0.003080	0	0
SCN11A	11280	broad.mit.edu	37	3	38991652	38991652	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:38991652C>T	uc021wvy.1	-	0	401	c.202G>A	c.(202-204)Gac>Aac	p.D68N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	68					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGAGGAATGTCGCCATAGAGC	0.542000														136			34		0	0	0.005524	0	0
FAM71B	153745	broad.mit.edu	37	5	156589960	156589960	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:156589960G>A	uc003lwn.3	-	1	1416	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	439						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTCCTACTGGGATGTCTGTC	0.517000														453			420		0	0	0.014410	0	0
VPS41	27072	broad.mit.edu	37	7	38781671	38781671	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:38781671G>A	uc003tgy.3	-	24	2199	c.2173C>T	c.(2173-2175)Cta>Tta	p.L725L	VPS41_uc003tgz.3_Silent_p.L700L|VPS41_uc010kxn.3_Silent_p.L636L|VPS41_uc003tgx.3_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	725					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGAATCAGTAGAATTGGGTCA	0.343000														17			11		0	0	0.008291	0	0
THSD7B	80731	broad.mit.edu	37	2	137988722	137988722	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:137988722C>T	uc002tva.1	+	6	1739	c.1739C>T	c.(1738-1740)tCa>tTa	p.S580L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.S470L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACGGAGTGGTCATCCTGTTCC	0.517000														20			13		0	0	0.020292	0	0
ADCY10	55811	broad.mit.edu	37	1	167779006	167779006	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:167779006C>T	uc001ger.3	-	32	5040	c.4742G>A	c.(4741-4743)tGg>tAg	p.W1581*	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Nonsense_Mutation_p.W1428*|ADCY10_uc009wvk.3_Nonsense_Mutation_p.W1489*	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1581					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AATTTTTTCCCATGATGGGAG	0.388000														47			39		0	0	0.005524	0	0
ANK1	286	broad.mit.edu	37	8	41615578	41615578	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:41615578C>T	uc003xok.3	-	1	189	c.105G>A	c.(103-105)ggG>ggA	p.G35G	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.G35G|ANK1_uc003xoj.3_Silent_p.G35G|ANK1_uc003xol.3_Silent_p.G35G|ANK1_uc003xom.3_Silent_p.G68G	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	35	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.N34S(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TAATATCTACCCCATTCCGCA	0.498000														389			88		0	0	0.014410	0	0
HNF1A	6927	broad.mit.edu	37	12	121416806	121416806	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:121416806G>A	uc001tzg.3	+	0	258	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.E79K|HNF1A_uc001tzf.3_Missense_Mutation_p.E79K|HNF1A_uc010szn.2_Missense_Mutation_p.E79K|HNF1A_uc021rfa.1_Missense_Mutation_p.E79K|HNF1A_uc021rfb.1_Silent_p.G17G|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	79	Asp/Glu-rich (acidic; potential involvement with transcription).				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGACGATGGGGAAGACTTCAC	0.662000									Hepatic Adenoma, Familial Clustering of					195			71		0	0	0.014410	0	0
STAB2	55576	broad.mit.edu	37	12	104046436	104046436	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:104046436T>G	uc001tjw.3	+	11	1546	c.1360T>G	c.(1360-1362)Ttc>Gtc	p.F454V		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	454	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACAGACATGTTCTACACCTT	0.393000														30			9		0	0	0.006214	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209950711	209950711	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:209950711G>A	uc001hho.3	+	11	1488	c.1068G>A	c.(1066-1068)agG>agA	p.R356R	TRAF3IP3_uc001hhm.2_Intron|TRAF3IP3_uc001hhn.3_Silent_p.R336R|TRAF3IP3_uc009xcr.3_Silent_p.R356R	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	356						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAGATAGCAGGGACTTACAGA	0.537000														64			15		0	0	0.004007	0	0
SRCAP	10847	broad.mit.edu	37	16	30732570	30732570	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:30732570C>T	uc002dze.1	+	20	3699	c.3314C>T	c.(3313-3315)tCc>tTc	p.S1105F	SRCAP_uc021tgn.1_Missense_Mutation_p.S1105F|SRCAP_uc002dzf.3_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.S962F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1105	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAACCTTGTCCCTAAAGCCA	0.617000														108			37		0	0	0.021022	0	0
ACSL3	2181	broad.mit.edu	37	2	223806250	223806250	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:223806250C>T	uc002vni.3	+	16	2492	c.2041C>T	c.(2041-2043)Cgt>Tgt	p.R681C	ACSL3_uc002vnj.3_Missense_Mutation_p.R681C	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	681					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	p.R681C(8)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AGTAAAAATTCGTTTGAGTCC	0.378000			T	ETV1	prostate									12			8		0	0	0.004482	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011970	160011970	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:160011970G>A	uc001fuw.2	-	1	593	c.353C>T	c.(352-354)gCc>gTc	p.A118V		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	118						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAAGAGGAAGGCTCCAGTGAG	0.572000														100			25		0	0	0.021523	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43737504	43737504	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:43737504G>A	uc004ada.2	+	2	784	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	CNTNAP3B_uc004acz.2_Non-coding_Transcript	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	125	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CAGTATCGCCGAGAAGAAAGC	0.418000														52			26		0	0	0.019004	0	0
DENND5A	23258	broad.mit.edu	37	11	9168652	9168652	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:9168652C>A	uc001mhl.3	-	15	3039	c.2782G>T	c.(2782-2784)Gag>Tag	p.E928*	DENND5A_uc001mhk.3_Nonsense_Mutation_p.E271*|DENND5A_uc010rbw.2_Nonsense_Mutation_p.E928*|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	928	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGGAACTGCTCCTTCTCGTCA	0.478000														55			27		4.87955e-14	5.10206e-14	0.005443	1	0
AK302694	0	broad.mit.edu	37	10	30992563	30992563	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:30992563G>A	uc010qdx.1	+	5	1005	c.463G>A	c.(463-465)Gag>Aag	p.E155K						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		AAGACCAAATGAGAAGAACCC	0.483000														160			47		0	0	0.011902	0	0
C1orf87	127795	broad.mit.edu	37	1	60466815	60466815	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:60466815C>G	uc001czs.2	-	9	1314	c.1206G>C	c.(1204-1206)aaG>aaC	p.K402N	C1orf87_uc001czr.1_5'UTR	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	402							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGGGGCTTTCTTTTCATTCT	0.428000														7			3		0	0	0.004672	0	0
PSKH1	5681	broad.mit.edu	37	16	67943579	67943579	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:67943579C>T	uc002euv.3	+	1	1097	c.927C>T	c.(925-927)atC>atT	p.I309I	PSKH1_uc010cet.2_Silent_p.I309I	NM_006742	NP_006733	P11801	KPSH1_HUMAN	Homo sapiens protein serine kinase H1 (PSKH1), mRNA.	309	Protein kinase.					Golgi apparatus|endoplasmic reticulum membrane|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		ACCGGCAGATCCTCAGGGGCA	0.597000														17			5		0	0	0.014758	0	0
SMPD3	55512	broad.mit.edu	37	16	68405628	68405628	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:68405628C>T	uc002ewa.3	-	2	879	c.457G>A	c.(457-459)Gag>Aag	p.E153K	SMPD3_uc010cfe.3_Missense_Mutation_p.E153K|SMPD3_uc010vlh.2_Missense_Mutation_p.E153K	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	153					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGCCCGATCTCCTTGGCCCGC	0.592000														31			8		0	0	0.006214	0	0
MXRA5	25878	broad.mit.edu	37	X	3239114	3239114	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:3239114C>T	uc004crg.4	-	4	4769	c.4612G>A	c.(4612-4614)Gaa>Aaa	p.E1538K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1538						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)				GCTTCTGTTTCTGGATTCCCC	0.433000														20			30		0	0	0.009535	0	0
BTNL3	10917	broad.mit.edu	37	5	180432492	180432492	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:180432492C>T	uc003mmr.3	+	7	1205	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	BTNL3_uc010jlp.3_Missense_Mutation_p.H126Y	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	341	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGCAGGGAAACATTACTGGGA	0.502000														127			37		0	0	0.005524	0	0
WDR88	126248	broad.mit.edu	37	19	33639704	33639704	+	Silent	SNP	C	T	T	rs112724972	byFrequency	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:33639704C>T	uc002nui.3	+	4	645	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	189								p.I189I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ATACCTTCATCGTCTCCTGTA	0.463000														107			26		0	0	0.004656	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824697	96824697	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:96824697A>T	uc001kkb.3	-	3	597	c.502T>A	c.(502-504)Ttc>Atc	p.F168I	CYP2C8_uc010qoa.2_Missense_Mutation_p.F98I|CYP2C8_uc010qoc.2_Missense_Mutation_p.F66I|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.F82I|CYP2C8_uc021pwl.1_Missense_Mutation_p.F98I|CYP2C8_uc010qod.1_Missense_Mutation_p.F82I	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	168					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCCAGGATGAAAGTGGGATCA	0.308000														30			14		0	0	0.004990	0	0
C7orf63	79846	broad.mit.edu	37	7	89897659	89897659	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:89897659G>T	uc010lep.3	+	5	744	c.493G>T	c.(493-495)Gat>Tat	p.D165Y	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.2_Intron|C7orf63_uc010leo.2_Missense_Mutation_p.D163Y	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	165							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GTGTATTGTTGATTTTTATCA	0.338000														12			8		5.4927e-09	5.70212e-09	0.004482	1	0
RAC2	5880	broad.mit.edu	37	22	37622712	37622712	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:37622712C>T	uc003arc.3	-	6	698	c.581_splice	c.e6+1			NM_002872	NP_002863	P15153	RAC2_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA.						axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GACTCTTACCCCTAGAGGAGG	0.632000														17			11		0	0	0.008291	0	0
PTPRB	5787	broad.mit.edu	37	12	70928675	70928675	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:70928675G>A	uc001swb.4	-	27	5518	c.5488C>T	c.(5488-5490)Ctg>Ttg	p.L1830L	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Silent_p.L1740L|PTPRB_uc010stp.2_Silent_p.L1740L|PTPRB_uc001swc.4_Silent_p.L2048L|PTPRB_uc001swa.4_Silent_p.L1960L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1830	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1830M(3)|p.L2048M(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCATCTGCAGGATGAGGTCC	0.502000														30			11		0	0	0.010729	0	0
EPAS1	2034	broad.mit.edu	37	2	46588101	46588101	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:46588101C>T	uc002ruv.3	+	5	1161	c.651C>T	c.(649-651)ccC>ccT	p.P217P		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	217					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACAAGGAGCCCCTGCTGTCCT	0.567000														33			24		0	0	0.018920	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794027	21794027	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:21794027G>A	uc001wag.3	+	15	2405	c.2405G>A	c.(2404-2406)tGg>tAg	p.W802*	RPGRIP1_uc001wah.3_Nonsense_Mutation_p.W444*|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Nonsense_Mutation_p.W277*|RPGRIP1_uc010aim.3_Nonsense_Mutation_p.W185*|RPGRIP1_uc001wal.3_Nonsense_Mutation_p.W161*|RPGRIP1_uc001wam.3_Nonsense_Mutation_p.W119*	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	802	C2.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AACGAGCTGTGGATTGAAATC	0.507000														24			10		0	0	0.010729	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617118	77617118	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:77617118C>T	uc003yau.2	+	1	1182	c.795C>T	c.(793-795)ttC>ttT	p.F265F	ZFHX4_uc003yat.1_Silent_p.F265F|ZFHX4_uc003yaw.1_Silent_p.F265F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	265						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTCCAAATTCGATGGTTGTG	0.423000										HNSCC(33;0.089)				52			36		0	0	0.013726	0	0
APOB	338	broad.mit.edu	37	2	21230763	21230763	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:21230763C>T	uc002red.3	-	25	9105	c.8977G>A	c.(8977-8979)Gat>Aat	p.D2993N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2993					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCTGGGAATCGACTTGTGAT	0.418000														173			73		0	0	0.014410	0	0
AGBL2	79841	broad.mit.edu	37	11	47701582	47701582	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:47701582G>A	uc001ngg.3	-	12	2261	c.1959C>T	c.(1957-1959)tcC>tcT	p.S653S	AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Silent_p.S615S|AGBL2_uc001ngh.1_Silent_p.S597S	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	653					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	p.K652R(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GATAACCTAAGGACTTCAGAT	0.393000														53			14		0	0	0.004007	0	0
ABCC4	10257	broad.mit.edu	37	13	95726485	95726485	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:95726485G>A	uc001vmd.4	-	22	3019	c.2900C>T	c.(2899-2901)tCc>tTc	p.S967F	ABCC4_uc010afk.3_Missense_Mutation_p.S920F	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	967	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CAGAATCAGGGACCCAAAGGC	0.413000														22			6		0	0	0.001984	0	0
SLC47A1	55244	broad.mit.edu	37	17	19458545	19458545	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:19458545C>T	uc002gvx.3	+	6	650	c.564C>T	c.(562-564)atC>atT	p.I188I	SLC47A1_uc010vyy.1_Intron|SLC47A1_uc002gvy.1_Silent_p.I188I|SLC47A1_uc010vyz.1_Silent_p.I165I|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Intron|SLC47A1_uc010vza.1_5'Flank|SLC47A1_uc010vzb.1_5'Flank|SLC47A1_uc010vzc.1_5'Flank|SNORA59B_uc002gvz.1_5'Flank	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	188						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TGCCCCAGATCGTAACTGGAG	0.507000														102			52		0	0	0.014410	0	0
OTOA	146183	broad.mit.edu	37	16	21716602	21716602	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:21716602G>A	uc002djh.3	+	10	1094	c.1093G>A	c.(1093-1095)Ggc>Agc	p.G365S	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.G286S|OTOA_uc002dji.3_Missense_Mutation_p.G41S|OTOA_uc010vbk.2_Missense_Mutation_p.G13S	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	379					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTTCCAGGCTGGCGTCCAGAA	0.557000														59			28		0	0	0.010818	0	0
COL3A1	1281	broad.mit.edu	37	2	189854859	189854859	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:189854859G>A	uc002uqj.1	+	8	845	c.728G>A	c.(727-729)gGa>gAa	p.G243E	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	243	Triple-helical region.		G -> V (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G243E(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGAGAGCGAGGATTGCCTGGA	0.368000														6			6		0	0	0.001984	0	0
LRWD1	222229	broad.mit.edu	37	7	102106487	102106487	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:102106487C>T	uc003uzn.3	+	1	442	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S	ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	102					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GGAGGGCAACCCCTTCCTGAC	0.622000														24			15		0	0	0.020292	0	0
EVI5L	115704	broad.mit.edu	37	19	7916645	7916645	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:7916645G>A	uc010xjz.2	+	6	1023	c.976G>A	c.(976-978)Ggg>Agg	p.G326R	EVI5L_uc002min.3_Missense_Mutation_p.G326R|EVI5L_uc002mio.1_Missense_Mutation_p.G57R	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	326						intracellular	Rab GTPase activator activity|protein binding			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GGACATGGAGGGGATGTCCCA	0.667000														15			5		0	0	0.014758	0	0
SIRPG	55423	broad.mit.edu	37	20	1629916	1629916	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:1629916C>T	uc002wfm.1	-	1	277	c.212G>A	c.(211-213)gGa>gAa	p.G71E	SIRPG_uc002wfn.1_Missense_Mutation_p.G71E|SIRPG_uc002wfo.1_Missense_Mutation_p.G71E	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	71	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCGGCCTGGTCCAACTCCTCT	0.512000														53			16		0	0	0.006122	0	0
CHD1L	9557	broad.mit.edu	37	1	146724344	146724344	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:146724344A>T	uc001epm.4	+	1	257	c.194A>T	c.(193-195)aAt>aTt	p.N65I	CHD1L_uc001epn.4_5'UTR|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.N65I|CHD1L_uc010ozp.2_Intron|CHD1L_uc001epo.4_Intron	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	65	Helicase ATP-binding.				DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CATTGTCAGAATGGCTGTATC	0.512000														53			41		0	0	0.007835	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600950	41600950	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:41600950C>T	uc002opt.3	+	7	1257	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	416					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CCCAGCACTTCCTGGATAAGA	0.567000														121			44		0	0	0.008740	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448887	89448887	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:89448887G>A	uc021opo.1	-	0	623	c.623C>T	c.(622-624)tCc>tTc	p.S208F	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.S208F|RBMXL1_uc001dms.3_Missense_Mutation_p.S208F	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	208							RNA binding|nucleotide binding										ATCTCTTGGGGACAAATAAAC	0.463000														124			36		0	0	0.007835	0	0
GTF3C2	2976	broad.mit.edu	37	2	27558792	27558793	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:27558792_27558793GG>AA	uc002rju.1	-	8	1888_1889	c.1491_1492CC>TT	c.(1489-1494)acccct>acTTct	p.P498S	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rjv.1_Missense_Mutation_p.P487S|GTF3C2_uc002rjw.1_Missense_Mutation_p.P487S|GTF3C2_uc010eyz.2_Missense_Mutation_p.P487S|LOC100505624_uc002rjy.2_Intron	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	487						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTCCGAGGGGTGCCTGGAA	0.554000														29			9		0	0	0.004672	0	0
CDX4	1046	broad.mit.edu	37	X	72674248	72674248	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:72674248G>A	uc011mqk.2	+	2	682	c.682G>A	c.(682-684)Gag>Aag	p.E228K		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CAGAGCCAAGGAGAGAAAGAT	0.433000														1			7		0	0	0.003080	0	0
SIRT7	51547	broad.mit.edu	37	17	79875933	79875933	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:79875933C>T	uc002kcj.2	-	0	126	c.75G>A	c.(73-75)caG>caA	p.Q25Q		NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	Homo sapiens sirtuin 7 (SIRT7), mRNA.	25	Arg-rich.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGCGCTCCCTCTGCTGCTCCT	0.771000														23			14		0	0	0.020292	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302184	128302184	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:128302184C>T	uc003kuy.3	+	1	750	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_uc003kuz.3_Silent_p.F118F	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	118					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)		AGCCGGACTTCGTTCACGTGT	0.567000														45			9		0	0	0.006214	0	0
PPBP	5473	broad.mit.edu	37	4	74853765	74853765	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:74853765G>A	uc003hhj.3	-	0	143	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_002704	NP_002695	P02775	CXCL7_HUMAN	Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA.	19					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			CACCTGCAAGGCATGAAGTGG	0.517000														38			14		0	0	0.004007	0	0
HCN3	57657	broad.mit.edu	37	1	155257581	155257581	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:155257581A>G	uc001fjz.1	+	7	1660	c.1652A>G	c.(1651-1653)aAt>aGt	p.N551S	HCN3_uc010pfz.1_Missense_Mutation_p.N246S	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	551						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCAAGAAGAATTCCATACTG	0.512000														64			68		0	0	0.014410	0	0
SACS	26278	broad.mit.edu	37	13	23907979	23907979	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:23907979G>A	uc001uon.2	-	9	10625	c.10036C>T	c.(10036-10038)Cct>Tct	p.P3346S	SACS_uc001uoo.2_Missense_Mutation_p.P3199S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3346					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GACAACAAAGGAACAAATGCA	0.383000														22			4		0	0	0.014758	0	0
USP54	159195	broad.mit.edu	37	10	75289602	75289602	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:75289602G>A	uc001juo.3	-	12	1913	c.1896C>T	c.(1894-1896)agC>agT	p.S632S	USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Silent_p.S632S|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Silent_p.S632S	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	632					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TGTACTGGGGGCTTGGTCCAC	0.488000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		100			29		0	0	0.012213	0	0
NOP2	4839	broad.mit.edu	37	12	6669901	6669901	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:6669901C>T	uc021qtw.1	-	12	1568	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	NOP2_uc009zeq.2_Missense_Mutation_p.G179E|NOP2_uc021qtx.1_Missense_Mutation_p.G463E	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	467					positive regulation of cell proliferation|rRNA processing	nucleolus	RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GGAGATGACCCCAGTGCCACT	0.557000														26			3		0	0	0.009096	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323993	79323993	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:79323993G>A	uc010mpk.3	-	7	3321	c.3197C>T	c.(3196-3198)tCc>tTc	p.S1066F	PRUNE2_uc022bih.1_Missense_Mutation_p.S888F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1066					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCCTCCATGGAGATATTCTT	0.453000														64			22		0	0	0.014323	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403409	69403409	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:69403409G>A	uc021xov.1	-	5	1570	c.1527C>T	c.(1525-1527)atC>atT	p.I509I		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	509					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AACATTTTGTGATCATAAATA	0.443000														16			26		0	0	0.018920	0	0
GPR115	221393	broad.mit.edu	37	6	47682221	47682221	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:47682221C>T	uc003oyz.1	+	6	1411	c.1411C>T	c.(1411-1413)Cta>Tta	p.L471L	GPR115_uc003oza.1_Silent_p.L414L|GPR115_uc003ozb.1_Silent_p.L414L|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	414					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CGTCTCAATCCTAAGCTTGGT	0.488000														43			17		0	0	0.008871	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708565	108708565	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:108708565G>A	uc022cch.1	-	1	923	c.838C>T	c.(838-840)Cct>Tct	p.P280S	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.P280S	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	280					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCATCATAAGGAACAAAGACG	0.473000														36			34		0	0	0.019004	0	0
TMCO7	79613	broad.mit.edu	37	16	68901015	68901015	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:68901015C>T	uc002ewi.4	+	3	898	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	TMCO7_uc002ewh.3_Missense_Mutation_p.R296W	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	296						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GATGAGGTGTCGGGCCCCAGC	0.502000														87			40		0	0	0.007835	0	0
CARD9	64170	broad.mit.edu	37	9	139265382	139265382	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:139265382C>T	uc022bpp.1	-	3	704	c.538G>A	c.(538-540)Gag>Aag	p.E180K	CARD9_uc004chg.3_Missense_Mutation_p.E180K|CARD9_uc022bpo.1_Missense_Mutation_p.E180K|CARD9_uc011mdx.1_Missense_Mutation_p.E76K|CARD9_uc010nbj.2_Missense_Mutation_p.E180K	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	180					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TAGTTCTCCTCCTTGCAGCGC	0.682000														11			7		0	0	0.003080	0	0
OIP5	11339	broad.mit.edu	37	15	41611941	41611941	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:41611941G>A	uc001znp.3	-	2	487	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S		NM_007280	NP_009211	O43482	MS18B_HUMAN	Homo sapiens Opa interacting protein 5 (OIP5), mRNA.	143					CenH3-containing nucleosome assembly at centromere|cell communication|cell division|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AAACCAACGGGAATCCCACAA	0.403000														22			9		0	0	0.004482	0	0
CFHR5	81494	broad.mit.edu	37	1	196953100	196953100	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:196953100C>T	uc001gts.4	+	2	391	c.263C>T	c.(262-264)tCc>tTc	p.S88F		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	88	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GGAATGTGTTCCTTTCCTTTT	0.308000														22			7		0	0	0.001984	0	0
BCL3	602	broad.mit.edu	37	19	45254573	45254573	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:45254573C>T	uc010xxe.2	+	1	416	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	116	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CATGATGTGCCCCATGGAACA	0.592000			T	IGH@	CLL									609			233		0	0	0.014410	0	0
ATP12A	479	broad.mit.edu	37	13	25262581	25262581	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:25262581T>C	uc010aaa.3	+	3	686	c.353T>C	c.(352-354)cTc>cCc	p.L118P	ATP12A_uc001upp.3_Missense_Mutation_p.L118P	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	118					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTCTCTATCCTCCTGTGGGTG	0.592000														370			16		0	0	0.008871	0	0
GP9	2815	broad.mit.edu	37	3	128780637	128780637	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:128780637G>A	uc003elm.2	+	2	242	c.55G>A	c.(55-57)Gac>Aac	p.D19N	GP9_uc021xdn.1_Missense_Mutation_p.D19N	NM_000174	NP_000165	P14770	GPIX_HUMAN	Homo sapiens glycoprotein IX (platelet) (GP9), mRNA.	19	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	GGCCACCAAGGACTGCCCCAG	0.711000														22			6		0	0	0.001984	0	0
PRB3	5544	broad.mit.edu	37	12	11421008	11421008	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:11421008C>G	uc001qzs.3	-	2	213	c.175G>C	c.(175-177)Gga>Cga	p.G59R	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	59	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGGGTCGTCCTTCTGGCTTT	0.617000														222			13		0	0	0.004007	0	0
EIF3IP1	442720	broad.mit.edu	37	7	109599765	109599765	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:109599765G>A	uc003vfp.1	-	0	506	c.333C>T	c.(331-333)atC>atT	p.I111I						Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA.																		GGCCTGCAATGATGCACTCCC	0.488000														15			11		0	0	0.016723	0	0
TGM4	7047	broad.mit.edu	37	3	44945382	44945382	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:44945382C>T	uc003coc.4	+	8	1051	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	326					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.F326L(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GCAGGAATTTCCATGTGTGGA	0.592000														111			39		0	0	0.010771	0	0
OR10H4	126541	broad.mit.edu	37	19	16059926	16059926	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:16059926C>T	uc010xov.2	+	0	109	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCTGATGTTCCTGTTCACATT	0.498000														84			81		0	0	0.014410	0	0
CERCAM	51148	broad.mit.edu	37	9	131196510	131196510	+	Splice_Site	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:131196510T>C	uc004buz.4	+	10	1729	c.1331_splice	c.e10+2	p.I444_splice	CERCAM_uc004buy.1_Splice_Site_p.I366_splice|CERCAM_uc010mxz.3_Splice_Site_p.I366_splice|CERCAM_uc010mya.1_Splice_Site_p.I285_splice	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	444					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GGACCTGATGTAGGCAGCCTG	0.637000														37			12		0	0	0.016723	0	0
ABCC2	1244	broad.mit.edu	37	10	101567916	101567916	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:101567916C>T	uc001kqf.2	+	12	1884	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	582	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCCTTCACCTCCATTACCCTC	0.483000														88			24		0	0	0.018920	0	0
SNTG2	54221	broad.mit.edu	37	2	1241662	1241662	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:1241662G>A	uc002qwq.3	+	9	851	c.722G>A	c.(721-723)tGg>tAg	p.W241*	SNTG2_uc010ewi.3_Nonsense_Mutation_p.W114*	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	241					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTCCCCAGGTGGAATGCGTTC	0.672000														8			3		0	0	0.004672	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233660	63233660	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:63233660G>A	uc001nwy.2	-	4	843	c.669C>T	c.(667-669)atC>atT	p.I223I	HRASLS5_uc001nwz.2_Silent_p.I213I|HRASLS5_uc010rmq.1_Silent_p.I223I|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	223										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTACTGCACGATCTTGTTGA	0.517000														54			19		0	0	0.010504	0	0
HMCN1	83872	broad.mit.edu	37	1	185976275	185976275	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:185976275C>T	uc001grq.1	+	29	4720	c.4491C>T	c.(4489-4491)ggC>ggT	p.G1497G		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1497	Ig-like C2-type 12.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATTTTTGGGCGATCCTAATG	0.353000														17			4		0	0	0.009096	0	0
PYDC2	152138	broad.mit.edu	37	3	191179158	191179158	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:191179158G>A	uc011bso.2	+	0	207	c.207G>A	c.(205-207)ggG>ggA	p.G69G		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	Homo sapiens pyrin domain containing 2 (PYDC2), mRNA.	69	DAPIN.					cytoplasm|nucleus		p.A68A(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						ACTGGGCAGGGATGGCAGCCA	0.527000														66			22		0	0	0.006320	0	0
XK	7504	broad.mit.edu	37	X	37586969	37586969	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:37586969G>A	uc004ddq.3	+	2	671	c.589G>A	c.(589-591)Gat>Aat	p.D197N		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	197					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AATCAAGTACGATGAGTATGA	0.478000														2			4		0	0	0.009096	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829077	67829077	+	Silent	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:67829077T>G	uc009xpn.1	-	14	2271	c.2148A>C	c.(2146-2148)acA>acC	p.T716T	CTNNA3_uc001jmw.2_Silent_p.T716T	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	716					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TAGTGAAGTCTGTCATCTCCA	0.368000														54			24		0	0	0.018920	0	0
ABHD8	79575	broad.mit.edu	37	19	17412216	17412216	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:17412216C>T	uc002ngb.4	-	1	450	c.210G>A	c.(208-210)ggG>ggA	p.G70G		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	70							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CGGAGAGGTCCCCCTGGGCTG	0.697000														28			8		0	0	0.003080	0	0
OR2F2	135948	broad.mit.edu	37	7	143632533	143632533	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:143632533G>A	uc011ktv.2	+	0	208	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CTCCCTTGTCGATGTCTCCTA	0.502000														180			104		0	0	0.014410	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537394	5537394	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:5537394C>A	uc001maz.4	-	0	563	c.278G>T	c.(277-279)gGc>gTc	p.G93V	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	93	Ubiquitin-like.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GATGGTGTGGCCATCCATGAT	0.547000														41			9		5.50884e-06	5.66933e-06	0.013537	1	0
GEN1	348654	broad.mit.edu	37	2	17950004	17950004	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:17950004G>A	uc002rct.2	+	6	710	c.637_splice	c.e6-1	p.G213_splice	SMC6_uc010exo.3_Intron|GEN1_uc010yjs.1_Splice_Site_p.G213_splice|GEN1_uc002rcu.2_Splice_Site_p.G213_splice	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Homo sapiens Gen endonuclease homolog 1 (Drosophila) (GEN1), transcript variant 1, mRNA.	213					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTCTGAAAGGGAGTCCCTG	0.343000								Homologous recombination						16			4		0	0	0.014758	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138429869	138429869	+	Splice_Site	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:138429869T>A	uc003vuf.3	-	13	1716	c.1478_splice	c.e13+1	p.N493_splice	ATP6V0A4_uc003vug.3_Splice_Site_p.N493_splice|ATP6V0A4_uc003vuh.3_Splice_Site_p.N493_splice	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	493					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCAACTCACTTCCATGTGCCG	0.498000														53			44		0	0	0.014410	0	0
MYO5B	4645	broad.mit.edu	37	18	47527636	47527636	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:47527636G>A	uc002leb.2	-	4	889	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	MYO5B_uc021ukb.1_Missense_Mutation_p.P200S	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	201	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCATGATGGGACTGGATGCC	0.592000														70			22		0	0	0.012319	0	0
CHD5	26038	broad.mit.edu	37	1	6206416	6206416	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:6206416G>A	uc001amb.2	-	10	1769	c.1658C>T	c.(1657-1659)cCc>cTc	p.P553L	CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	553	Chromo 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTAGTCAAAGGGGGGCGGCTC	0.557000														40			27		0	0	0.007291	0	0
CADPS2	93664	broad.mit.edu	37	7	121960381	121960381	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:121960381C>T	uc022akp.1	-	28	4151	c.3729G>A	c.(3727-3729)agG>agA	p.R1243R	CADPS2_uc003vkg.4_Silent_p.R897R|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.R1202R|CADPS2_uc022akr.1_Silent_p.R1243R	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1243					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.R1243*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATCGAAAGTCCCTGTAGGTTT	0.388000														128			38		0	0	0.013114	0	0
SERPINC1	462	broad.mit.edu	37	1	173883747	173883747	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:173883747C>T	uc001gjt.3	-	1	471	c.352G>A	c.(352-354)Gct>Act	p.A118T		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	118					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	ATAGCAAAAGCCGTGGAGATA	0.507000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			30		0	0	0.008361	0	0
DBH	1621	broad.mit.edu	37	9	136501608	136501609	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:136501608_136501609GG>AA	uc004cel.3	+	0	124_125	c.115_116GG>AA	c.(115-117)ggc>AAc	p.G39N		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	39					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CGCACTGCAGGGCTCGGCTCCC	0.668000														55			12		0	0	0.004672	0	0
ABCD2	225	broad.mit.edu	37	12	40012795	40012795	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:40012795T>C	uc001rmb.2	-	0	1049	c.623A>G	c.(622-624)cAa>cGa	p.Q208R		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	208	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CGTAAGAGATTGGTCAGGGTT	0.403000														32			14		0	0	0.020292	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570715	20570715	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:20570715C>T	uc002dhj.4	-	3	442	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	ACSM2B_uc002dhk.4_Missense_Mutation_p.E78K|ACSM2B_uc010bwf.1_Missense_Mutation_p.E78K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CACATTAATTCCTTCCCCTTC	0.557000														24			7		0	0	0.001984	0	0
UNC13A	23025	broad.mit.edu	37	19	17766795	17766795	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:17766795C>T	uc021uqk.1	-	9	1222	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	394					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCGGGGGCCTCGGTGGGTGCC	0.662000														7			12		0	0	0.010729	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101941	46101941	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:46101941G>A	uc002zfv.3	-	0	138	c.98C>T	c.(97-99)tCc>tTc	p.S33F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA.	33	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						CACGCACACGGAGGACTGGCA	0.677000														42			16		0	0	0.004007	0	0
CTSL3	392360	broad.mit.edu	37	9	90401769	90401769	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:90401769G>A	uc004apm.1	+	4	627	c.621G>A	c.(619-621)agG>agA	p.R207R						Homo sapiens cathepsin L family member 3 (CTSL3), non-coding RNA.											endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	15						ATGACATGAGGAATCATCTGG	0.493000														24			8		0	0	0.006214	0	0
KIF19	124602	broad.mit.edu	37	17	72346585	72346585	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:72346585G>A	uc002jkm.4	+	10	1397	c.1259G>A	c.(1258-1260)gGa>gAa	p.G420E	KIF19_uc002jkj.2_Missense_Mutation_p.G420E|KIF19_uc002jkk.2_Missense_Mutation_p.G378E|KIF19_uc002jkl.2_Missense_Mutation_p.G378E	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	420					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						GCTGGCATGGGACAGCTTCGG	0.642000														11			4		0	0	0.009096	0	0
FCGBP	8857	broad.mit.edu	37	19	40419769	40419769	+	Silent	SNP	G	A	A	rs147457166	byFrequency	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:40419769G>A	uc002omp.4	-	5	3233	c.3225C>T	c.(3223-3225)ttC>ttT	p.F1075F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1075	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCACTCCCGGAAGGGCCCCT	0.642000														90			26		0	0	0.008361	0	0
ZNF831	128611	broad.mit.edu	37	20	57829603	57829603	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:57829603G>A	uc002yan.3	+	4	4839	c.4839G>A	c.(4837-4839)agG>agA	p.R1613R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1613						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGACGGTAGGAAACGTCAGG	0.493000														48			23		0	0	0.004656	0	0
ZNF577	84765	broad.mit.edu	37	19	52376885	52376886	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:52376885_52376886GG>AA	uc010yde.2	-	6	748_749	c.357_358CC>TT	c.(355-360)ctccat>ctTTat	p.H120Y	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Intron|ZNF577_uc002pxv.3_Missense_Mutation_p.H113Y|ZNF577_uc002pxw.3_Intron	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CGCTTGATATGGAGGCATGATC	0.371000														36			17		0	0	0.004672	0	0
DNAH1	25981	broad.mit.edu	37	3	52422243	52422243	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:52422243C>T	uc011bef.2	+	56	9325	c.9064C>T	c.(9064-9066)Cag>Tag	p.Q3022*	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3022	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAAGAGTTCCAGCCAGCCAC	0.567000														16			3		0	0	0.009096	0	0
MYF6	4618	broad.mit.edu	37	12	81101549	81101549	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:81101549G>A	uc001szf.2	+	0	142	c.51G>A	c.(49-51)ggG>ggA	p.G17G		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	17					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.G17G(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						ACTTGGATGGGGAAAATGTTA	0.502000														74			12		0	0	0.003163	0	0
CXorf22	170063	broad.mit.edu	37	X	36007508	36007508	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:36007508G>A	uc004ddj.3	+	15	2852	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	929										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCAGAAGAAGGAGAATTTATT	0.383000														9			7		0	0	0.001984	0	0
AVPR1B	553	broad.mit.edu	37	1	206224806	206224806	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:206224806C>T	uc001hds.2	+	0	524	c.366C>T	c.(364-366)acC>acT	p.T122T		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	122					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTGCCTCCACCTACATGCTGC	0.642000														74			27		0	0	0.009535	0	0
CYP17A1	1586	broad.mit.edu	37	10	104596869	104596869	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:104596869C>T	uc001kwg.3	-	0	422	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	84					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	p.E84V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	ATAAGCACCTCCTTGGCCAGC	0.532000														64			15		0	0	0.020292	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19204081	19204081	+	Silent	SNP	G	A	A	rs150927009		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:19204081G>A	uc001bbb.3	-	9	1242	c.966C>T	c.(964-966)ttC>ttT	p.F322F	ALDH4A1_uc010ocu.2_Silent_p.F262F|ALDH4A1_uc001bbc.3_Silent_p.F322F|ALDH4A1_uc021ohl.1_Silent_p.F322F	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	322					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.F322F(6)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AGCGGTGCACGAAGTGGAAGT	0.657000														32			4		0	0	0.009096	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926572	22926572	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:22926572C>T	uc002dli.3	+	1	865	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	265						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	p.P265S(2)|p.P265Q(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GCAGTACTTCCCGCTAGCTCA	0.607000														135			54		0	0	0.014410	0	0
OR51G2	81282	broad.mit.edu	37	11	4936029	4936029	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:4936029G>A	uc001lzr.1	-	0	865	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCACAGGAGGAAAGAGAAGA	0.493000														12			4		0	0	0.009096	0	0
COL4A1	1282	broad.mit.edu	37	13	110855923	110855923	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:110855923G>A	uc001vqw.4	-	17	1111	c.989C>T	c.(988-990)cCa>cTa	p.P330L		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	330	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AATTCCAGGTGGGCCAGGAGG	0.498000														100			35		0	0	0.008740	0	0
NIPBL	25836	broad.mit.edu	37	5	37006515	37006515	+	Silent	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:37006515T>A	uc003jkl.4	+	16	4411	c.3912T>A	c.(3910-3912)gtT>gtA	p.V1304V	NIPBL_uc003jkk.4_Silent_p.V1304V	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1304					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGGAGAGAGTTACAAAATCAG	0.333000														19			14		0	0	0.004007	0	0
FAM73B	84895	broad.mit.edu	37	9	131830145	131830145	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:131830145C>T	uc004bxa.3	+	11	1450	c.1264C>T	c.(1264-1266)Cga>Tga	p.R422*	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc011mbn.1_Nonsense_Mutation_p.R422*|FAM73B_uc004bxb.3_5'Flank	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	422						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GCTGGAGGGCCGAGGGGTGAG	0.632000														11			6		0	0	0.003080	0	0
FSCN3	29999	broad.mit.edu	37	7	127238524	127238524	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:127238524C>T	uc003vmd.2	+	3	1215	c.996C>T	c.(994-996)ccC>ccT	p.P332P	FSCN3_uc011koh.1_Silent_p.P198P|FSCN3_uc010llc.2_Silent_p.P332P	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	332						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATGGGCACCCCCTGGAGTCTG	0.557000														86			44		0	0	0.011902	0	0
LEPREL1	55214	broad.mit.edu	37	3	189712007	189712007	+	Silent	SNP	G	A	A	rs114077778	by1000genomes	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:189712007G>A	uc011bsk.2	-	2	1087	c.699C>T	c.(697-699)ttC>ttT	p.F233F	LEPREL1_uc003fsg.3_Silent_p.F52F	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	233					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGGCTTGTTCGAAGTGCCTGA	0.403000														31			8		0	0	0.004482	0	0
IGSF1	3547	broad.mit.edu	37	X	130408775	130408775	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:130408775G>A	uc004ewe.4	-	17	3847	c.3564C>T	c.(3562-3564)tgC>tgT	p.C1188C	IGSF1_uc004ewd.3_Silent_p.C1183C|IGSF1_uc022cdv.1_Silent_p.C1174C|IGSF1_uc004ewf.2_Silent_p.C1163C	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1183	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.L1187L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGGTCCTCGGCACTGAAGGG	0.507000														44			30		0	0	0.006320	0	0
DNAI1	27019	broad.mit.edu	37	9	34506686	34506686	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:34506686C>T	uc003zum.3	+	12	1318	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	375					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	p.S374R(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ACCCCAGCTTCCCTGAGTACA	0.587000									Kartagener syndrome					41			16		0	0	0.006122	0	0
ELAC2	60528	broad.mit.edu	37	17	12898087	12898087	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:12898087G>A	uc002gnz.4	-	20	2140	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	ELAC2_uc002gnu.4_Missense_Mutation_p.R72W|ELAC2_uc002gnv.4_Missense_Mutation_p.R303W|ELAC2_uc002gnx.4_Missense_Mutation_p.R435W|ELAC2_uc010vvo.2_Missense_Mutation_p.R473W|ELAC2_uc010vvp.2_Missense_Mutation_p.R656W|ELAC2_uc010vvq.2_Missense_Mutation_p.R674W|ELAC2_uc010vvr.2_Missense_Mutation_p.R635W	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	675					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TCACCCATCCGGACCAGAGCC	0.602000														15			5		0	0	0.001984	0	0
ENAM	10117	broad.mit.edu	37	4	71507955	71507955	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:71507955G>A	uc011caw.1	+	8	1093	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	271					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGCCCCACAGGAAACAGTACC	0.542000														25			15		0	0	0.020292	0	0
FAT2	2196	broad.mit.edu	37	5	150946767	150946767	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:150946767C>T	uc003lue.4	-	0	1739	c.1726G>A	c.(1726-1728)Gac>Aac	p.D576N	FAT2_uc010jhx.1_Missense_Mutation_p.D576N	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	576	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)			ACTGGCCAGTCTTGGCGGATA	0.443000														83			81		0	0	0.014410	0	0
KIF25	3834	broad.mit.edu	37	6	168440813	168440813	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:168440813C>T	uc003qwk.1	+	5	825	c.563C>T	c.(562-564)cCc>cTc	p.P188L	KIF25_uc003qwl.1_Missense_Mutation_p.P188L	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	188	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		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)		GCGAAGCACCCCACCCTGGTG	0.572000														34			17		0	0	0.004007	0	0
TFPI	7035	broad.mit.edu	37	2	188331670	188331670	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:188331670T>C	uc002upy.3	-	7	1203	c.908A>G	c.(907-909)aAt>aGt	p.N303S		NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	303					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	AATTCACATATTTTTAACAAA	0.239000														10			3		0	0	0.004672	0	0
RNF217	154214	broad.mit.edu	37	6	125397990	125397990	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:125397990G>A	uc003pzr.3	+	3	1298	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	RNF217_uc003pzs.3_Missense_Mutation_p.R198Q|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	198					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGATTAGTGCGAGGGTCAGTC	0.443000														11			5		0	0	0.001984	0	0
SPANXE	171489	broad.mit.edu	37	X	140785720	140785720	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:140785720C>T	uc004fbq.3	-	1	289	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	66						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					TTCACCAGTTCCTCTGGAGAT	0.458000														80			113		0	0	0.014410	0	0
RNF17	56163	broad.mit.edu	37	13	25451191	25451191	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:25451191T>G	uc001upr.3	+	33	4681	c.4640T>G	c.(4639-4641)cTc>cGc	p.L1547R	RNF17_uc010tde.2_Missense_Mutation_p.L1543R|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.L1486R|RNF17_uc010aac.3_Missense_Mutation_p.L739R|RNF17_uc010aad.3_Missense_Mutation_p.L557R	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1547					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATAAAGGTTCTCTTGGCAGGG	0.443000														39			15		0	0	0.010504	0	0
C20orf118	140711	broad.mit.edu	37	20	35507531	35507531	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:35507531C>T	uc002xgg.1	+	2	285	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	C20orf118_uc021wcz.1_Silent_p.L93L	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	93	TLD.									kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				CCTGCAGAGCCTGTACCGGCG	0.662000														72			19		0	0	0.008871	0	0
FAT2	2196	broad.mit.edu	37	5	150947511	150947511	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:150947511C>T	uc003lue.4	-	0	995	c.982G>A	c.(982-984)Ggg>Agg	p.G328R	FAT2_uc010jhx.1_Missense_Mutation_p.G328R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	328					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)			AGGTTGAACCCATGAAGGTAC	0.502000														129			85		0	0	0.014410	0	0
HFM1	164045	broad.mit.edu	37	1	91850744	91850744	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:91850744G>A	uc001doa.4	-	6	901	c.802_splice	c.e6+1	p.P268_splice	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Splice_Site_p.P268_splice	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	268							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TAAAGGATACGAATTTCTGTG	0.249000														5			5		0	0	0.003080	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036340	71036340	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:71036340C>T	uc003tvy.3	+	5	1033	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S	WBSCR17_uc003tvz.3_Missense_Mutation_p.P44S	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	345	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCTTCTGGATCCTGGCATGGA	0.502000														95			35		0	0	0.019004	0	0
COL15A1	1306	broad.mit.edu	37	9	101806866	101806866	+	Missense_Mutation	SNP	C	T	T	rs140219439		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:101806866C>T	uc004azb.1	+	24	2797	c.2591C>T	c.(2590-2592)cCg>cTg	p.P864L		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	864	Triple-helical region 4 (COL4).				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)				AAGGGAGAGCCGGGTGCCATC	0.522000														58			13		0	0	0.004007	0	0
DHX9	1660	broad.mit.edu	37	1	182847207	182847207	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:182847207C>T	uc001gpr.3	+	19	2425	c.2250C>T	c.(2248-2250)acC>acT	p.T750T	DHX9_uc001gps.3_Silent_p.T536T|DHX9_uc001gpt.3_Silent_p.T29T	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	750	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACTATGCTACCGTATGGGCAT	0.448000														16			14		0	0	0.004990	0	0
OR9K2	441639	broad.mit.edu	37	12	55523577	55523577	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:55523577C>T	uc010spe.2	+	0	25	c.25C>T	c.(25-27)Cat>Tat	p.H9Y		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ACCAAGAGTTCATTTGTATAT	0.348000														16			7		0	0	0.003080	0	0
TMEM178	130733	broad.mit.edu	37	2	39931305	39931305	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:39931305C>T	uc002rrt.3	+	1	565	c.485C>T	c.(484-486)aCc>aTc	p.T162I	TMEM178_uc021vgg.1_5'UTR|TMEM178_uc010fam.2_Missense_Mutation_p.T162I	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	162						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				TTAACCAAGACCATACAGCAA	0.458000														32			8		0	0	0.004482	0	0
SHBG	6462	broad.mit.edu	37	17	7536267	7536267	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:7536267G>A	uc002gie.2	+	6	1088	c.1050G>A	c.(1048-1050)ggG>ggA	p.G350G	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Silent_p.G238G|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Silent_p.G292G|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Intron|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Silent_p.G292G|SHBG_uc002gid.3_Intron|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Silent_p.G332G|SHBG_uc010vuf.1_Intron|SHBG_uc010cnb.2_Intron|SHBG_uc010cnc.2_Intron	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	350	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	TCTTCCTGGGGGCTTTACCAG	0.557000											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			10		0	0	0.010729	0	0
TMEM108	66000	broad.mit.edu	37	3	133114707	133114707	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:133114707G>A	uc003epi.3	+	6	1876	c.1606_splice	c.e6-1	p.D536_splice	TMEM108_uc003eph.3_Splice_Site_p.D536_splice|TMEM108_uc003epk.3_Splice_Site_p.D66_splice	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	536						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCTCTTCCCAGGACCAGCTCT	0.498000														59			19		0	0	0.007413	0	0
C2orf89	129293	broad.mit.edu	37	2	85097750	85097750	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:85097750G>A	uc010ysl.2	-	1	357	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	C2orf89_uc002sou.4_Missense_Mutation_p.L90F|C2orf89_uc010fgc.2_Missense_Mutation_p.L90F	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	90						integral to membrane		p.D89N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						GGGTCTGTGAGATCCAACTCA	0.547000														13			10		0	0	0.006214	0	0
MKRN3	7681	broad.mit.edu	37	15	23811087	23811087	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:23811087G>A	uc001ywh.4	+	0	634	c.158G>A	c.(157-159)aGg>aAg	p.R53K	MKRN3_uc001ywi.3_Missense_Mutation_p.R53K|MKRN3_uc010ayi.1_Missense_Mutation_p.R53K	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	53						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CATGCGGCAAGGGGCTGGGCC	0.692000														44			13		0	0	0.020292	0	0
NINL	22981	broad.mit.edu	37	20	25498400	25498400	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:25498400G>A	uc002wux.1	-	2	340	c.266C>T	c.(265-267)tCt>tTt	p.S89F	NINL_uc010gdn.1_Missense_Mutation_p.S89F|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Missense_Mutation_p.S105F	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	89					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGATTCCAAAGAACTACTGTC	0.378000														19			13		0	0	0.020292	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44511516	44511516	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:44511516C>A	uc021wem.1	+	0	285	c.285C>A	c.(283-285)ttC>ttA	p.F95L	ZSWIM1_uc010ghi.3_Missense_Mutation_p.F95L	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	Homo sapiens zinc finger, SWIM-type containing 1 (ZSWIM1), mRNA.	95							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TATATACCTTCCTGGTGGATG	0.517000														48			20		1.01871e-10	1.06092e-10	0.008871	1	0
PDHA2	5161	broad.mit.edu	37	4	96761632	96761632	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:96761632C>T	uc003htr.4	+	0	394	c.331C>T	c.(331-333)Cac>Tac	p.H111Y		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	111					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCCCTCGGATCACGTCATTAC	0.527000														95			30		0	0	0.015359	0	0
THSD7A	221981	broad.mit.edu	37	7	11676184	11676184	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:11676184C>T	uc021zzo.1	-	1	847	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	THSD7A_uc021zzn.1_Missense_Mutation_p.E199K	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	199	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCAGAAAATTCAGACACGATG	0.592000										HNSCC(18;0.044)				36			24		0	0	0.021523	0	0
LOC440040	440040	broad.mit.edu	37	11	49598415	49598415	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:49598415G>A	uc010rhy.2	+	1	1006	c.528G>A	c.(526-528)gtG>gtA	p.V176V	LOC440040_uc009ymb.3_Silent_p.V176V					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		TGGACATAGTGAAGAGGTACA	0.428000														20			9		0	0	0.006214	0	0
KIAA2026	158358	broad.mit.edu	37	9	5922502	5922502	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:5922502G>T	uc003zjq.4	-	7	3710	c.3494C>A	c.(3493-3495)cCa>cAa	p.P1165Q	KIAA2026_uc010mht.3_Missense_Mutation_p.P340Q	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1165								p.A1165G(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGCTGTATTTGGTAGTTGGGT	0.353000														35			17		1.02788e-11	1.07304e-11	0.004990	1	0
TAT	6898	broad.mit.edu	37	16	71606462	71606462	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:71606462C>T	uc002fap.2	-	4	637	c.538G>A	c.(538-540)Gga>Aga	p.G180R		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	180					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic 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)	ACCTCAATTCCCATAGACTCA	0.388000														44			13		0	0	0.004007	0	0
FANK1	92565	broad.mit.edu	37	10	127693492	127693492	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:127693492G>A	uc009yan.3	+	7	761	c.657G>A	c.(655-657)gtG>gtA	p.V219V	FANK1_uc001ljh.4_Silent_p.V193V|FANK1_uc001lji.3_Silent_p.V187V	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	193						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TAGATGTTGTGAAATATCTCC	0.527000														109			38		0	0	0.006230	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184903	130184903	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:130184903C>T	uc009zyl.1	-	1	748	c.420G>A	c.(418-420)ctG>ctA	p.L140L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	140						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGGCCGGCTCAGGTAGACTT	0.532000														32			9		0	0	0.006214	0	0
ADCY10	55811	broad.mit.edu	37	1	167830287	167830287	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:167830287G>A	uc001ger.3	-	14	1929	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	ADCY10_uc010plj.2_Missense_Mutation_p.S391L|ADCY10_uc009wvk.3_Missense_Mutation_p.S452L|ADCY10_uc009wvl.3_Missense_Mutation_p.S543L	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	544					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTTATTCAATGAAATGGCAAT	0.333000														47			11		0	0	0.008291	0	0
GPR98	84059	broad.mit.edu	37	5	89990391	89990391	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:89990391G>A	uc003kju.3	+	32	7914	c.7818G>A	c.(7816-7818)gtG>gtA	p.V2606V	GPR98_uc003kjt.3_Silent_p.V312V|GPR98_uc003kjv.3_Silent_p.V206V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2606					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAACCTTGGTGGAGCTGATGA	0.463000														55			56		0	0	0.014410	0	0
HRG	3273	broad.mit.edu	37	3	186394924	186394924	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:186394924C>T	uc003fqq.3	+	6	853	c.830C>T	c.(829-831)cCa>cTa	p.P277L		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	277	Pro-rich.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ACCAAGCCTCCATTCAAGCCC	0.527000														77			22		0	0	0.014323	0	0
STEAP3	55240	broad.mit.edu	37	2	120005431	120005431	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:120005431C>T	uc002tlp.3	+	3	826	c.669C>T	c.(667-669)ttC>ttT	p.F223F	STEAP3_uc002tlq.3_Silent_p.F233F|STEAP3_uc002tlr.3_Silent_p.F223F|STEAP3_uc010fle.3_Silent_p.F223F	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	223					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TGGGGCTCTTCGTCTGCTTCT	0.627000														47			14		0	0	0.003163	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882742	43882742	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:43882742G>A	uc009xmh.1	-	2	1078	c.591C>T	c.(589-591)ccC>ccT	p.P197P	HNRNPF_uc001jar.2_Silent_p.P197P|HNRNPF_uc001jas.2_Silent_p.P197P|HNRNPF_uc001jat.2_Silent_p.P197P|HNRNPF_uc001jav.2_Silent_p.P197P|HNRNPF_uc001jau.2_Silent_p.P197P|HNRNPF_uc021ppg.1_Silent_p.P197P|HNRNPF_uc010qfa.1_Missense_Mutation_p.G142R	NM_001098208	NP_004957	P52597	HNRPF_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.	197					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTTCAGAGGGGGATCTGAGT	0.562000														73			26		0	0	0.004656	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58257932	58257932	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:58257932C>A	uc002aex.3	-	7	1165	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	ALDH1A2_uc010ugv.2_Missense_Mutation_p.D277Y|ALDH1A2_uc002aey.3_Missense_Mutation_p.D260Y|ALDH1A2_uc010ugw.2_Missense_Mutation_p.D269Y|ALDH1A2_uc002aew.3_Missense_Mutation_p.D202Y	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	298					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CAGTCAGCATCAGCAAAAATA	0.413000														33			8		5.18039e-06	5.33552e-06	0.003080	1	0
FBXL8	55336	broad.mit.edu	37	16	67197714	67197714	+	Silent	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:67197714C>A	uc002erk.1	+	2	1236	c.1116C>A	c.(1114-1116)ctC>ctA	p.L372L	HSF4_uc002erl.2_5'UTR|HSF4_uc002erm.2_5'UTR|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank	NM_018378	NP_060848	Q96CD0	FBXL8_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 8 (FBXL8), mRNA.	372							protein binding			endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		GGCCTACGCTCGTGGCGTGAT	0.697000														35			11		3.27435e-08	3.3938e-08	0.020292	1	0
NDUFAF2	91942	broad.mit.edu	37	5	60448757	60448757	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:60448757G>A	uc003jsp.4	+	3	612	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	NDUFAF2_uc003jso.4_Non-coding_Transcript	NM_174889	NP_777549	Q8N183	MIMIT_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA.	162						membrane|mitochondrion	NADH dehydrogenase (ubiquinone) activity|electron carrier activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGGATGCCACGAGATGGCAAG	0.408000														9			13		0	0	0.020292	0	0
SULF1	23213	broad.mit.edu	37	8	70541836	70541836	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:70541836G>A	uc003xyg.2	+	17	2767	c.2206G>A	c.(2206-2208)Ggg>Agg	p.G736R	SULF1_uc010lza.1_Missense_Mutation_p.G736R|SULF1_uc003xyd.2_Missense_Mutation_p.G736R|SULF1_uc003xye.2_Missense_Mutation_p.G736R|SULF1_uc003xyf.2_Missense_Mutation_p.G736R|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'UTR	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	736					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.G736E(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAGAGGAAGGGGGAAGAGTG	0.537000														87			28		0	0	0.008361	0	0
SDR16C5	195814	broad.mit.edu	37	8	57224829	57224829	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:57224829C>T	uc010lyk.1	-	2	990	c.352G>A	c.(352-354)Gat>Aat	p.D118N	SDR16C5_uc003xsy.1_Missense_Mutation_p.D118N|SDR16C5_uc010lyl.1_Intron	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	118					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ATGGAAACATCGCCGACTTCT	0.368000														34			21		0	0	0.014323	0	0
SULF1	23213	broad.mit.edu	37	8	70550829	70550829	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:70550829T>G	uc003xyg.2	+	18	2938	c.2377T>G	c.(2377-2379)Ttt>Gtt	p.F793V	SULF1_uc010lza.1_Missense_Mutation_p.F793V|SULF1_uc003xyd.2_Missense_Mutation_p.F793V|SULF1_uc003xye.2_Missense_Mutation_p.F793V|SULF1_uc003xyf.2_Missense_Mutation_p.F793V|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_Intron|SULF1_uc003xyj.1_5'UTR	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	793					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTCTGTGAGTTTGCTACTGG	0.363000														82			33		0	0	0.013726	0	0
OR2G6	391211	broad.mit.edu	37	1	248685273	248685273	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:248685273C>T	uc001ien.1	+	0	326	c.326C>T	c.(325-327)tCg>tTg	p.S109L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S109L(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTTGGGCTCGTCTGAGTGT	0.547000														93			29		0	0	0.010818	0	0
DCAKD	79877	broad.mit.edu	37	17	43111675	43111675	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:43111675G>A	uc002ihx.2	-	1	452	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	DCAKD_uc010daa.1_Missense_Mutation_p.R66C|DCAKD_uc010dab.1_Missense_Mutation_p.R66C|DCAKD_uc002ihy.3_Missense_Mutation_p.R66C	NM_024819	NP_079095	Q8WVC6	DCAKD_HUMAN	Homo sapiens dephospho-CoA kinase domain containing (DCAKD), transcript variant 1, mRNA.	66	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				AGGACCTTGCGATTTATGTCG	0.597000														68			14		0	0	0.020292	0	0
HCN1	348980	broad.mit.edu	37	5	45267329	45267329	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:45267329G>A	uc003jok.3	-	6	1670	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	549						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R548H(1)		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						CTGGCAGTACGACGTCCTTTG	0.408000														54			16		0	0	0.006122	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13475031	13475031	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:13475031G>A	uc009vnu.1	-	2	1145	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L		NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN	Homo sapiens PRAME family member 18 (PRAMEF18), mRNA.	366										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGACCCTGAGTTTGGAGT	0.572000														278			105		0	0	0.014410	0	0
PPFIA1	8500	broad.mit.edu	37	11	70185379	70185379	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:70185379C>T	uc001opo.3	+	13	1889	c.1674C>T	c.(1672-1674)ggC>ggT	p.G558G	PPFIA1_uc001opn.2_Silent_p.G558G|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	558					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CACAGAAAGGCCGGCTGGCAG	0.572000														50			18		0	0	0.008871	0	0
GRM4	2914	broad.mit.edu	37	6	34008042	34008042	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:34008042C>T	uc003oir.4	-	6	1782	c.1419G>A	c.(1417-1419)ggG>ggA	p.G473G	GRM4_uc011dsn.2_Silent_p.G426G|GRM4_uc010jvh.3_Silent_p.G473G|GRM4_uc010jvi.3_Silent_p.G165G|GRM4_uc003oio.3_Silent_p.G165G|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.G333G|GRM4_uc003oiq.3_Silent_p.G340G|GRM4_uc011dsm.2_Silent_p.G304G	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	473					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TGTCATAGCGCCCAGGCGCAT	0.572000														134			48		0	0	0.014410	0	0
FDPS	2224	broad.mit.edu	37	1	155279652	155279652	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:155279652G>C	uc001fkc.2	+	1	291	c.72G>C	c.(70-72)gaG>gaC	p.E24D	FDPS_uc021paw.1_Intron|FDPS_uc001fkd.2_Intron|FDPS_uc021pax.1_Intron|FDPS_uc001fke.2_Missense_Mutation_p.E24D	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	24					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CACCCCGGGAGAGGTGGCTGG	0.682000														13			4		0	0	0.014758	0	0
ABHD12B	145447	broad.mit.edu	37	14	51352531	51352531	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:51352531G>A	uc001wys.3	+	6	595	c.580G>A	c.(580-582)Gat>Aat	p.D194N	ABHD12B_uc001wyr.3_Missense_Mutation_p.D117N|ABHD12B_uc001wyq.3_Missense_Mutation_p.D87N|ABHD12B_uc010any.3_Intron	NM_001206673	NP_001193602	Q7Z5M8	AB12B_HUMAN	Homo sapiens abhydrolase domain containing 12B (ABHD12B), transcript variant 1, mRNA.	194							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					ACTGACTACGGATGCCATTTG	0.517000														96			34		0	0	0.010818	0	0
STK36	27148	broad.mit.edu	37	2	219553455	219553455	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:219553455C>T	uc002viu.3	+	11	1695	c.1416C>T	c.(1414-1416)atC>atT	p.I472I	STK36_uc002viv.3_Silent_p.I472I	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	472					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTTCCCACATCCTGCCTGCAT	0.532000														131			37		0	0	0.010771	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072668	17072668	+	Missense_Mutation	SNP	G	A	A	rs147789853	by1000genomes	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:17072668G>A	uc002zlp.1	-	0	1033	c.773C>T	c.(772-774)aCg>aTg	p.T258M		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	258					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAGACGGGCCGTTGCTGGTGC	0.502000														78			23		0	0	0.014323	0	0
OR8D2	283160	broad.mit.edu	37	11	124189248	124189248	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:124189248G>A	uc010sah.2	-	0	846	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TCAGCATGGGGATTATTGTGA	0.423000														15			9		0	0	0.008291	0	0
SPI1	6688	broad.mit.edu	37	11	47399883	47399883	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:47399883C>T	uc001nfb.1	-	0	245	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	SPI1_uc001nfc.1_Missense_Mutation_p.E8K|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.E2K	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	8					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GGAAACCCTTCCATTTTGCAC	0.687000														19			4		0	0	0.009096	0	0
FNDC9	408263	broad.mit.edu	37	5	156770374	156770374	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:156770374C>T	uc003lwu.2	-	1	359	c.171G>A	c.(169-171)acG>acA	p.T57T	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Silent_p.T57T	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	57	Fibronectin type-III.					integral to membrane		p.R56*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CGGAGCTGATCGTTCGAGGCA	0.522000														87			69		0	0	0.014410	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68165716	68165716	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:68165716G>T	uc003xxo.2	-	17	3058	c.2668C>A	c.(2668-2670)Cta>Ata	p.L890I	ARFGEF1_uc003xxl.1_Missense_Mutation_p.L344I	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	890					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGGATTGTTAGTTCTTTTGTT	0.318000														46			14		2.31682e-05	2.3787e-05	0.003163	1	0
HEATR5B	54497	broad.mit.edu	37	2	37295975	37295975	+	Silent	SNP	C	A	A	rs143552035		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:37295975C>A	uc002rpp.1	-	7	1122	c.1026G>T	c.(1024-1026)cgG>cgT	p.R342R		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	342							binding	p.P341P(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTTGTGTTGCCCGAGGATGGG	0.493000														22			16		2.31682e-05	2.3787e-05	0.003163	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961064	73961064	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:73961064C>T	uc004eby.3	-	2	3945	c.3328G>A	c.(3328-3330)Gaa>Aaa	p.E1110K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1110					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.E1110K(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGATTTTTTCCACACTGTCC	0.443000														8			11		0	0	0.016723	0	0
ABCC8	6833	broad.mit.edu	37	11	17428582	17428582	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:17428582G>A	uc001mnc.3	-	24	3141	c.3015C>T	c.(3013-3015)tcC>tcT	p.S1005S		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1005					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGCCGGCGGAGGACAGGTACT	0.617000														197			70		0	0	0.014410	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32502640	32502640	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:32502640C>T	uc001bub.3	+	4	1007	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	KHDRBS1_uc001bua.1_Missense_Mutation_p.P262S|KHDRBS1_uc001buc.1_Non-coding_Transcript	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.	301	Pro-rich.				G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCACCTGTTCCCAGGTAAAA	0.493000														65			21		0	0	0.014323	0	0
TULP1	7287	broad.mit.edu	37	6	35477635	35477635	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:35477635C>T	uc003okv.4	-	5	582	c.570G>A	c.(568-570)gaG>gaA	p.E190E	TULP1_uc003okw.4_Silent_p.E137E|TULP1_uc021yyx.1_Silent_p.E190E|TULP1_uc021yyy.1_Silent_p.E190E	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	190					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCTTGGTCCCCTCCCCTGCTG	0.572000														196			53		0	0	0.014410	0	0
ZNF248	57209	broad.mit.edu	37	10	38126603	38126603	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:38126603G>A	uc001izd.1	-	4	679	c.180C>T	c.(178-180)atC>atT	p.I60I	ZNF248_uc009xmc.2_Silent_p.I60I|ZNF248_uc001izb.3_Non-coding_Transcript|ZNF248_uc001izc.3_Silent_p.I60I|ZNF248_uc010qeu.1_Silent_p.I60I	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I60I(2)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTCCTTGCTCGATCTTAAAGA	0.428000														15			12		0	0	0.013537	0	0
HSD17B2	3294	broad.mit.edu	37	16	82104609	82104609	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:82104609C>T	uc002fgv.3	+	2	713	c.541C>T	c.(541-543)Ctt>Ttt	p.L181F		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	181					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GGAGCTTCTTCTTATGACTGA	0.468000														48			13		0	0	0.003163	0	0
SEC31B	25956	broad.mit.edu	37	10	102249886	102249886	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:102249886G>A	uc001krc.1	-	20	2946	c.2844C>T	c.(2842-2844)ggC>ggT	p.G948G	SEC31B_uc010qpo.1_Silent_p.G947G|SEC31B_uc001krd.1_Silent_p.G485G|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	948	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGACCATGCGGCCGGGACCTA	0.622000														69			21		0	0	0.014323	0	0
IHH	3549	broad.mit.edu	37	2	219920370	219920370	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:219920370G>A	uc002vjo.2	-	2	844	c.795C>T	c.(793-795)ccC>ccT	p.P265P		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	265					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCGGCGTGGGGGGTCCTGAG	0.647000														22			12		0	0	0.013537	0	0
CDC5L	988	broad.mit.edu	37	6	44413591	44413591	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:44413591C>T	uc003oxl.3	+	14	2601	c.2291C>T	c.(2290-2292)cCc>cTc	p.P764L		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	764	Interaction with PLRG1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGCTATTCCCCGGAGGCTA	0.398000														32			7		0	0	0.001984	0	0
NLRP5	126206	broad.mit.edu	37	19	56549442	56549442	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:56549442C>T	uc002qmj.3	+	9	2667	c.2667C>T	c.(2665-2667)atC>atT	p.I889I	NLRP5_uc002qmi.3_Silent_p.I870I	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	889						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTCCCAAATCCTTACGACCT	0.537000														54			21		0	0	0.012319	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769915	43769915	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:43769915C>T	uc010skx.2	-	34	5257	c.5257G>A	c.(5257-5259)Gaa>Aaa	p.E1753K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1753	GON.					proteinaceous extracellular matrix	zinc ion binding	p.L1753F(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTAAATATTCCTTAGGGTTC	0.338000														6			5		0	0	0.014758	0	0
SRPK2	6733	broad.mit.edu	37	7	104782625	104782625	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:104782625T>A	uc003vct.3	-	9	1527	c.1340A>T	c.(1339-1341)gAg>gTg	p.E447V	SRPK2_uc003vcu.3_Missense_Mutation_p.E447V|SRPK2_uc003vcv.3_Missense_Mutation_p.E458V|SRPK2_uc003vcw.1_Missense_Mutation_p.E447V	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	447	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GAACTGTGACTCGGGAATTTT	0.443000														71			41		0	0	0.009718	0	0
OR4D5	219875	broad.mit.edu	37	11	123810592	123810592	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:123810592C>T	uc001pzk.1	+	0	269	c.269C>T	c.(268-270)cCt>cTt	p.P90L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCAGGCAACCCTACCATTTCC	0.473000														34			28		0	0	0.004656	0	0
CD109	135228	broad.mit.edu	37	6	74497110	74497110	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:74497110C>T	uc003php.3	+	20	2922	c.2491C>T	c.(2491-2493)Cct>Tct	p.P831S	CD109_uc003phq.3_Missense_Mutation_p.P831S|CD109_uc010kba.3_Missense_Mutation_p.P754S	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	831						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.P831H(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGAGAAATTCCTATCACAGT	0.448000														20			21		0	0	0.014323	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676526	234676526	+	Missense_Mutation	SNP	C	T	T	rs144978321		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:234676526C>T	uc002vuw.3	+	2	1031	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	UGT1A1_uc010zmv.1_Missense_Mutation_p.S340L|UGT1A1_uc002vup.3_Missense_Mutation_p.S340L|UGT1A1_uc002vuq.3_Missense_Mutation_p.S340L|UGT1A1_uc002vur.3_Missense_Mutation_p.S340L|UGT1A1_uc010zmw.1_Missense_Mutation_p.S340L|UGT1A1_uc002vus.3_Missense_Mutation_p.S340L|UGT1A1_uc010zmx.1_Missense_Mutation_p.S340L|UGT1A1_uc002vut.3_Missense_Mutation_p.S340L|UGT1A1_uc002vuu.3_Missense_Mutation_p.S75L|UGT1A1_uc010zmy.1_Missense_Mutation_p.S342L|UGT1A1_uc002vuv.4_Missense_Mutation_p.S342L|UGT1A1_uc010zmz.1_Missense_Mutation_p.S344L|UGT1A1_uc010zna.1_Missense_Mutation_p.S344L|UGT1A1_uc002vux.3_Missense_Mutation_p.S344L|UGT1A1_uc010znb.1_Missense_Mutation_p.S344L|UGT1A1_uc002vuy.3_Missense_Mutation_p.S344L|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc010znc.1_Missense_Mutation_p.S343L|UGT1A1_uc002vvb.3_Missense_Mutation_p.S343L	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	343					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACCCGACCATCGAATCTTGCG	0.448000														111			29		0	0	0.012213	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77528660	77528660	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:77528660G>A	uc001dhi.3	+	5	955	c.780_splice	c.e5-1	p.R260_splice	ST6GALNAC5_uc010ori.2_Splice_Site|ST6GALNAC5_uc009wbw.3_Splice_Site|ST6GALNAC5_uc001dhj.3_5'Flank	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	260					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CCTCCTACAGGGATCCCAATC	0.368000														23			6		0	0	0.001984	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92705993	92705993	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:92705993C>T	uc002bqx.2	+	9	1962	c.1761C>T	c.(1759-1761)atC>atT	p.I587I	SLCO3A1_uc002bqy.2_Silent_p.I587I|SLCO3A1_uc002bqz.1_Silent_p.I529I	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	587					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CAGGCTTCATCCCTCCACCCC	0.562000														56			19		0	0	0.007413	0	0
TDRD10	126668	broad.mit.edu	37	1	154479353	154479353	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:154479353G>A	uc009wow.3	+	2	812	c.-26_splice	c.e2-1		TDRD10_uc001ffd.3_Splice_Site	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.								RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGTTTTGTAGGAGATCCTGTT	0.493000														67			11		0	0	0.010729	0	0
ALMS1	7840	broad.mit.edu	37	2	73680811	73680811	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:73680811C>A	uc002sje.1	+	7	7265	c.7154C>A	c.(7153-7155)tCt>tAt	p.S2385Y	ALMS1_uc002sjf.1_Missense_Mutation_p.S2343Y|ALMS1_uc002sjg.3_Missense_Mutation_p.S1773Y|ALMS1_uc002sjh.1_Missense_Mutation_p.S1773Y	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2385					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCAGCCAAATCTGTAATGAGG	0.383000														19			8		5.18039e-06	5.33552e-06	0.003080	1	0
MOXD1	26002	broad.mit.edu	37	6	132641827	132641827	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:132641827C>T	uc003qdf.3	-	9	1405	c.1306_splice	c.e9-1	p.G436_splice	MOXD1_uc003qde.3_Splice_Site_p.G368_splice	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	436					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGGTTATCTCCCTGAAACATA	0.318000														8			6		0	0	0.001168	0	0
FREM2	341640	broad.mit.edu	37	13	39264353	39264353	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:39264353G>A	uc001uwv.3	+	0	3181	c.2872G>A	c.(2872-2874)Gaa>Aaa	p.E958K		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	958					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGATGTCTTAGAAAATGGGGC	0.463000														37			12		0	0	0.013537	0	0
CHFR	55743	broad.mit.edu	37	12	133430057	133430057	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:133430057G>A	uc001ulf.2	-	10	1452	c.1368C>T	c.(1366-1368)gcC>gcT	p.A456A	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Silent_p.A415A|CHFR_uc001ule.2_Silent_p.A444A|CHFR_uc010tbs.1_Silent_p.A456A|CHFR_uc010tbt.1_Silent_p.A364A	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	456					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CATCCCCCAGGGCCTGTGGGG	0.697000														5			3		0	0	0.009096	0	0
TUB	7275	broad.mit.edu	37	11	8060574	8060574	+	Splice_Site	SNP	C	T	T	rs150936269		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:8060574C>T	uc001mfy.3	+	1	396	c.155_splice	c.e1+1	p.R52_splice	TUB_uc010rbk.2_Intron	NM_003320	NP_003311	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 1, mRNA.	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		p.R52W(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CCGAAGAGATCGGTAAGCTTT	0.577000														32			10		0	0	0.006214	0	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	G	G	rs121913370		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:140453193T>G	uc003vwc.4	-	15	1803	c.1742_splice	c.e15-1	p.N581_splice		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					27			6		0	0	0.001984	0	0
FZD8	8325	broad.mit.edu	37	10	35928513	35928513	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:35928513G>A	uc001iyz.1	-	0	1850	c.1845C>T	c.(1843-1845)tcC>tcT	p.S615S		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	615					T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GGGTGCACAGGGAGCGCCAGG	0.746000														11			4		0	0	0.009096	0	0
SLC4A5	57835	broad.mit.edu	37	2	74460589	74460589	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:74460589C>T	uc002sko.1	-	17	2537	c.2535G>A	c.(2533-2535)ctG>ctA	p.L845L	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.L845L|SLC4A5_uc010ffc.1_Silent_p.L845L|SLC4A5_uc002skp.1_Silent_p.L743L|SLC4A5_uc002sks.1_Silent_p.L807L	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	845						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCATGAAGATCAGGATGGTCA	0.572000														37			15		0	0	0.004007	0	0
NMUR2	56923	broad.mit.edu	37	5	151784584	151784584	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:151784584C>T	uc003luv.2	-	0	257	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	31					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCCAGATACTCCTCGGTGCTG	0.498000														115			40		0	0	0.006999	0	0
CPM	1368	broad.mit.edu	37	12	69260720	69260720	+	Missense_Mutation	SNP	T	G	G	rs140807579	byFrequency	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:69260720T>G	uc001sup.3	-	6	957	c.896A>C	c.(895-897)aAt>aCt	p.N299T	CPM_uc001sur.3_Missense_Mutation_p.N299T|CPM_uc001suq.3_Missense_Mutation_p.N299T	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	299					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GGCTTTGTTATTATTCCAAAA	0.358000														27			19		0	0	0.008871	0	0
NUP160	23279	broad.mit.edu	37	11	47837085	47837085	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:47837085G>A	uc001ngm.3	-	12	1717	c.1632C>T	c.(1630-1632)caC>caT	p.H544H	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Silent_p.H544H	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	544					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding	p.H544Y(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GGGCAAGAGGGTGAGAGAGGG	0.428000														77			30		0	0	0.013726	0	0
NEU4	129807	broad.mit.edu	37	2	242756232	242756232	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:242756232C>T	uc002wcp.2	+	2	878	c.384C>T	c.(382-384)atC>atT	p.I128I	NEU4_uc010fzr.3_Silent_p.I115I|NEU4_uc002wcm.3_Silent_p.I115I|NEU4_uc002wco.2_Silent_p.I115I|NEU4_uc002wcn.2_Silent_p.I127I	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	115						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCGTGCAGATCGCCACGGGAA	0.701000														3			4		0	0	0.009096	0	0
CFH	3075	broad.mit.edu	37	1	196876120	196876120	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:196876120C>T	uc001gtp.3	+	3	706	c.569C>T	c.(568-570)tCc>tTc	p.S190F	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.S189F|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	550	Sushi 3.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACCACAGATTCCATAGTGTGT	0.368000														11			3		0	0	0.004672	0	0
SULF1	23213	broad.mit.edu	37	8	70536400	70536400	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:70536400G>A	uc003xyg.2	+	13	2379	c.1818G>A	c.(1816-1818)gtG>gtA	p.V606V	SULF1_uc010lza.1_Silent_p.V606V|SULF1_uc003xyd.2_Silent_p.V606V|SULF1_uc003xye.2_Silent_p.V606V|SULF1_uc003xyf.2_Silent_p.V606V|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	606					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.V606M(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAACGCCGTGGGCCCACCTA	0.512000														38			15		0	0	0.004990	0	0
C11orf80	79703	broad.mit.edu	37	11	66563829	66563829	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:66563829C>T	uc021qmd.1	+	5	718	c.711C>T	c.(709-711)caC>caT	p.H237H	C11orf80_uc010rpk.2_Silent_p.H71H	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA.	82										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						TCATGGTGCACCCTAAGGTAA	0.358000														19			4		0	0	0.001168	0	0
RBP3	5949	broad.mit.edu	37	10	48382054	48382054	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:48382054C>T	uc001jez.3	-	3	3709	c.3595G>A	c.(3595-3597)Ggg>Agg	p.G1199R		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1199	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.V1198L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCGAGGCCCCCACAGAACGG	0.642000														42			13		0	0	0.020292	0	0
TRRAP	8295	broad.mit.edu	37	7	98608812	98608812	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:98608812G>A	uc003upp.3	+	69	11243	c.11034G>A	c.(11032-11034)ctG>ctA	p.L3678L	TRRAP_uc011kis.2_Silent_p.L3649L|TRRAP_uc003upr.3_Silent_p.L3384L|TRRAP_uc003ups.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3678	PI3K/PI4K.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTGGCTCTGATAGGCTTCG	0.552000														113			31		0	0	0.010818	0	0
ZNF716	441234	broad.mit.edu	37	7	57528444	57528444	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:57528444T>A	uc011kdi.1	+	3	389	c.277T>A	c.(277-279)Ttc>Atc	p.F93I		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATGTTCTCATTTCACCCAAGA	0.318000														17			6		0	0	0.001168	0	0
AK302879	0	broad.mit.edu	37	15	76071779	76071779	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:76071779A>T	uc010umm.1	+	2	291	c.214A>T	c.(214-216)Ata>Tta	p.I72L	DNM1P35_uc021sqp.1_Intron					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		AAGCTCCGCAATAATCAATCA	0.502000														21			5		0	0	0.014758	0	0
DSCAM	1826	broad.mit.edu	37	21	41447102	41447102	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:41447102C>T	uc002yyq.1	-	26	5202	c.4750G>A	c.(4750-4752)Gaa>Aaa	p.E1584K	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1584					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCCCTTCTTCGTTTTGGACA	0.527000														45			14		0	0	0.020292	0	0
FRMPD4	9758	broad.mit.edu	37	X	12712545	12712545	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:12712545C>T	uc004cuz.2	+	8	1411	c.905C>T	c.(904-906)cCa>cTa	p.P302L	FRMPD4_uc011mij.2_Missense_Mutation_p.P294L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	302	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGAGAGATCCAGTTGCTTTC	0.403000														18			12		0	0	0.016723	0	0
DNAH5	1767	broad.mit.edu	37	5	13885137	13885137	+	Missense_Mutation	SNP	G	A	A	rs143673459		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:13885137G>A	uc003jfd.2	-	18	2986	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	982	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R982H(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATACGTTTGCGAATGGCCTCT	0.438000									Kartagener syndrome					86			18		0	0	0.006122	0	0
FBXO3	26273	broad.mit.edu	37	11	33790446	33790446	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:33790446G>A	uc001muz.3	-	2	337	c.309C>T	c.(307-309)ctC>ctT	p.L103L	FBXO3_uc001muy.3_5'UTR|FBXO3_uc009ykb.3_Non-coding_Transcript|FBXO3_uc001mva.1_Silent_p.L103L|FBXO3_uc001mvb.1_Silent_p.L98L|FBXO3_uc010rek.1_Non-coding_Transcript	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA.	103					proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		AATATTTCTTGAGATCATCCC	0.403000														90			46		0	0	0.014410	0	0
KCNA3	3738	broad.mit.edu	37	1	111216243	111216243	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:111216243C>T	uc001dzv.1	-	0	1413	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	397						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATCCCAGCTCCCGCATGGAC	0.582000														67			25		0	0	0.018920	0	0
OAS3	4940	broad.mit.edu	37	12	113386755	113386755	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:113386755T>G	uc001tug.3	+	5	1206	c.1119T>G	c.(1117-1119)aaT>aaG	p.N373K		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	373	Linker.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGAGCCTCAATGCTGTGTACC	0.612000														20			10		0	0	0.008291	0	0
DSG3	1830	broad.mit.edu	37	18	29049074	29049074	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:29049074C>T	uc002kws.3	+	11	1768	c.1659C>T	c.(1657-1659)gcC>gcT	p.A553A		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	553					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)			TCCTCAGAGCCCAGGAACAGA	0.463000														109			45		0	0	0.014410	0	0
ALPP	250	broad.mit.edu	37	2	233245988	233245988	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:233245988G>A	uc002vsq.3	+	9	1385	c.1220G>A	c.(1219-1221)aGg>aAg	p.R407K		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	407						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCCCGGGACAGGAAGGCCTAC	0.652000														37			11		0	0	0.005443	0	0
KIAA1109	84162	broad.mit.edu	37	4	123097030	123097030	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:123097030C>T	uc003ieh.3	+	3	364	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W		NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	107					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CATCATTTTTCGGTGGTGGAA	0.274000														13			7		0	0	0.003080	0	0
HBB	3043	broad.mit.edu	37	11	5247936	5247936	+	Silent	SNP	C	T	T	rs34446260		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:5247936C>T	uc001mae.1	-	1	236	c.186G>A	c.(184-186)aaG>aaA	p.K62K	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	62			K -> E (in N-Seatlle).|K -> M (in Bologna; O(2) affinity down).|K -> N (in Hikari).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	TGCCATGAGCCTTCACCTTAG	0.552000									Sickle Cell Trait					73			22		0	0	0.018920	0	0
THBS3	7059	broad.mit.edu	37	1	155167720	155167720	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:155167720C>T	uc001fix.3	-	19	2359	c.2254_splice	c.e19-1	p.G752_splice	THBS3_uc021pat.1_Splice_Site_p.G149_splice|THBS3_uc010pfu.2_Splice_Site_p.G632_splice|THBS3_uc009wqi.3_Splice_Site_p.G743_splice|THBS3_uc001fiy.3_Splice_Site_p.G281_splice|THBS3_uc010pfv.2_Intron	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	752	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTTCCATGCCCTGGGGTTGTA	0.517000														82			15		0	0	0.020292	0	0
ANP32AP1	723972	broad.mit.edu	37	15	35530049	35530049	+	RNA	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:35530049G>A	uc001ziy.3	+	0		c.523G>A								Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA.																		ggaggatgaggatgaggagga	0.567000														11			5		0	0	0.014758	0	0
RGS8	85397	broad.mit.edu	37	1	182616032	182616032	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:182616032G>A	uc010pnw.1	-	6	639	c.381C>T	c.(379-381)acC>acT	p.T127T	RGS8_uc001gpn.1_Silent_p.T127T|RGS8_uc001gpm.1_Silent_p.T145T	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	127	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TGGCTTCTCGGGTCTGGAAGT	0.507000														129			34		0	0	0.019004	0	0
MET	4233	broad.mit.edu	37	7	116339180	116339180	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:116339180C>T	uc003vij.3	+	1	229	c.42C>T	c.(40-42)ctC>ctT	p.L14L	MET_uc022akk.1_Silent_p.L14L|MET_uc010lkh.3_Silent_p.L14L|MET_uc011knc.1_Silent_p.L14L|MET_uc011knd.2_Silent_p.L14L|MET_uc011knf.2_Silent_p.L14L|MET_uc011kne.2_Silent_p.L14L|MET_uc011kng.1_Silent_p.L14L|MET_uc011knh.1_Silent_p.L14L|MET_uc011kni.2_Silent_p.L14L|MET_uc003vii.1_Silent_p.L33L|MET_uc010lkg.3_Silent_p.L14L|MET_uc011kmz.1_Silent_p.L14L|MET_uc011kna.1_Silent_p.L14L|MET_uc011knb.1_Silent_p.L14L	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	14					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCCTCGTGCTCCTGTTTACCT	0.493000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					19			4		0	0	0.014758	0	0
DCLK1	9201	broad.mit.edu	37	13	36700097	36700097	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:36700097G>A	uc001uvf.3	-	1	461	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	60	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CGATAGAAACGAACTTTCTTG	0.582000														41			26		0	0	0.004656	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55351117	55351117	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:55351117G>A	uc002qhm.1	+	4	649	c.603G>A	c.(601-603)tgG>tgA	p.W201*	KIR3DL2_uc010yfj.2_Missense_Mutation_p.G195D|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.G202D|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	304	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CCTACGAGTGGTCAAACTCGA	0.557000														216			71		0	0	0.014410	0	0
SCFD2	152579	broad.mit.edu	37	4	54140030	54140030	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:54140030C>T	uc003gzu.3	-	3	1408	c.1274G>A	c.(1273-1275)tGg>tAg	p.W425*	SCFD2_uc010igm.3_Nonsense_Mutation_p.W425*	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	425					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAAGTTGTCCCACTTGGCAGT	0.448000														41			23		0	0	0.016522	0	0
KLRG2	346689	broad.mit.edu	37	7	139164442	139164442	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:139164442C>T	uc003vvb.3	-	2	1005	c.936G>A	c.(934-936)caG>caA	p.Q312Q	KLRG2_uc010lnc.3_Intron	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 2 (KLRG2), mRNA.	312	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CTTCCCAGGCCTGCGCTTCTG	0.612000														77			18		0	0	0.007413	0	0
UGT1A1	54658	broad.mit.edu	37	2	234602064	234602064	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:234602064C>T	uc002vuv.4	+	0	553	c.414C>T	c.(412-414)ttC>ttT	p.F138F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Silent_p.F138F	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	139					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCTGAACTTCTTTAAGGAGA	0.488000														52			14		0	0	0.003163	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722355	58722355	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:58722355G>A	uc001nnh.2	+	4	442	c.392G>A	c.(391-393)aGa>aAa	p.R131K	GLYATL1_uc001nnf.3_Missense_Mutation_p.R100K|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.R100K|GLYATL1_uc001nnj.2_Missense_Mutation_p.R100K	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	100						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGGAAACAGAGACTCCAAATC	0.403000														13			8		0	0	0.003080	0	0
CDHR1	92211	broad.mit.edu	37	10	85973996	85973996	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:85973996C>T	uc001kcv.3	+	16	2304	c.2199C>T	c.(2197-2199)gtC>gtT	p.V733V	CDHR1_uc001kcw.3_Intron|CDHR1_uc009xst.3_Silent_p.V437V|CDHR1_uc001kcx.3_Silent_p.V47V	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	733					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTAACAAGGTCCTGCCAATGC	0.642000														48			20		0	0	0.016522	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198172	170198172	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:170198172G>A	uc003fgz.2	-	6	2215	c.1899C>T	c.(1897-1899)ccC>ccT	p.P633P	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	633						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAGGCACAAAGGGGAGGCAAG	0.547000														137			24		0	0	0.018920	0	0
FLG	2312	broad.mit.edu	37	1	152275372	152275372	+	Missense_Mutation	SNP	C	T	T	rs149094882		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:152275372C>T	uc001ezu.1	-	2	12026	c.11990G>A	c.(11989-11991)gGa>gAa	p.G3997E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3997					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTAACACTTCCGTGCTGAGA	0.403000									Ichthyosis					89			27		0	0	0.006320	0	0
LMO3	55885	broad.mit.edu	37	12	16753761	16753761	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:16753761C>T	uc010shz.2	-	2	259	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	LMO3_uc001rdj.2_Missense_Mutation_p.G23S|LMO3_uc010shy.2_Missense_Mutation_p.G30S|LMO3_uc001rdk.2_Missense_Mutation_p.G12S|LMO3_uc001rdl.2_Missense_Mutation_p.G12S|LMO3_uc009zii.2_Non-coding_Transcript|LMO3_uc001rdn.2_Missense_Mutation_p.G12S|LMO3_uc001rdm.2_Missense_Mutation_p.G12S|LMO3_uc009zij.2_Non-coding_Transcript|LMO3_uc001rdo.2_Non-coding_Transcript|LMO3_uc001rdp.2_Non-coding_Transcript|LMO3_uc009zik.2_Non-coding_Transcript	NM_001243613	NP_001230542	Q8TAP4	LMO3_HUMAN	Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA.	12	LIM zinc-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				CCAGCACAACCTTTCGGCTTG	0.468000														26			9		0	0	0.010729	0	0
CAD	790	broad.mit.edu	37	2	27465619	27465619	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:27465619C>T	uc002rji.3	+	40	6516	c.6354C>T	c.(6352-6354)ttC>ttT	p.F2118F	CAD_uc010eyw.3_Silent_p.F2055F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2118	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGCGGGCCTTCGTGGCCTCCC	0.657000														43			17		0	0	0.004990	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033086	20033086	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:20033086G>A	uc002wrs.3	-	1	416	c.384C>T	c.(382-384)tcC>tcT	p.S128S	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Silent_p.S116S	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAAACAAACAGGATCTCGGAA	0.582000														51			22		0	0	0.021523	0	0
ATCAY	85300	broad.mit.edu	37	19	3905628	3905628	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:3905628G>A	uc010xhz.2	+	4	834	c.351G>A	c.(349-351)ggG>ggA	p.G117G	ATCAY_uc002lyy.4_Silent_p.G111G			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	111					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGTTCCTGGGGAATGGCAACG	0.582000														43			43		0	0	0.014410	0	0
NRP1	8829	broad.mit.edu	37	10	33481215	33481215	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:33481215G>A	uc001iwx.4	-	12	2579	c.2056C>T	c.(2056-2058)Cac>Tac	p.H686Y	NRP1_uc001iwv.4_Missense_Mutation_p.H686Y|NRP1_uc001iwy.4_Missense_Mutation_p.H679Y|NRP1_uc009xlz.3_Missense_Mutation_p.H679Y|NRP1_uc001iww.4_Missense_Mutation_p.H498Y	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	686	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	ATACCTGTGTGATCCTGAATG	0.502000														140			45		0	0	0.011902	0	0
USP44	84101	broad.mit.edu	37	12	95928001	95928001	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:95928001C>T	uc001teg.3	-	1	176	c.32G>A	c.(31-33)gGg>gAg	p.G11E	USP44_uc001teh.3_Missense_Mutation_p.G11E|USP44_uc009zte.3_Missense_Mutation_p.G8E	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	11					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTGCAGCTGCCCAACATGTTT	0.468000											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			25		0	0	0.004656	0	0
NNT	23530	broad.mit.edu	37	5	43628344	43628344	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:43628344C>T	uc003joe.3	+	6	1074	c.819C>T	c.(817-819)ccC>ccT	p.P273P	NNT_uc003jof.3_Silent_p.P273P	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	273					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GTGCTGAGCCCTTGGAGGTGG	0.433000														64			15		0	0	0.003163	0	0
LPHN3	23284	broad.mit.edu	37	4	62903526	62903526	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:62903526G>A	uc010ihh.3	+	20	3638	c.3465G>A	c.(3463-3465)ggG>ggA	p.G1155G	LPHN3_uc003hcq.4_Silent_p.G1155G|LPHN3_uc003hct.3_Silent_p.G539G	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1133					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						TTGGTTCAGGGAAAACATCTG	0.403000														39			15		0	0	0.004990	0	0
KLHL7	55975	broad.mit.edu	37	7	23183515	23183515	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:23183515C>T	uc003svs.4	+	5	957	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	KLHL7_uc003svr.4_Missense_Mutation_p.R200C|KLHL7_uc011jys.2_Missense_Mutation_p.R146C|KLHL7_uc011jyt.2_5'UTR|KLHL7_uc003svt.3_Missense_Mutation_p.R174C|KLHL7_uc011jyv.2_5'UTR	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	222						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAACCTAATCGCCAGCCATT	0.378000														102			42		0	0	0.013114	0	0
TNN	63923	broad.mit.edu	37	1	175052945	175052945	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:175052945G>A	uc001gkl.1	+	4	1221	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	TNN_uc010pmx.1_Missense_Mutation_p.E370K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	370	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTTGACGTGGAGTGGGAAAA	0.562000														38			37		0	0	0.021022	0	0
EYA1	2138	broad.mit.edu	37	8	72123484	72123484	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:72123484T>A	uc003xyu.3	-	16	2245	c.1605A>T	c.(1603-1605)gaA>gaT	p.E535D	EYA1_uc003xyt.4_Missense_Mutation_p.E502D|EYA1_uc003xyr.4_Missense_Mutation_p.E500D|EYA1_uc010lzf.3_Missense_Mutation_p.E462D|EYA1_uc003xys.4_Missense_Mutation_p.E535D|EYA1_uc011lfe.2_Missense_Mutation_p.E529D|EYA1_uc003xyv.3_Missense_Mutation_p.E413D	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	535					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CAAAACAGCTTTCTTTTCCTA	0.333000														26			9		0	0	0.006214	0	0
TOP3B	8940	broad.mit.edu	37	22	22318385	22318385	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:22318385C>T	uc002zvs.3	-	10	1549	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T	TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Missense_Mutation_p.A372T|TOP3B_uc010gtl.3_Missense_Mutation_p.A372T	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	372					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		ATACCTTCTGCTAACAACCGC	0.612000														27			18		0	0	0.004990	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424330	69424330	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:69424330G>A	uc004dxx.1	+	5	920	c.823G>A	c.(823-825)Ggc>Agc	p.G275S		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	275					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CGGATCCTGGGGCTTCCTGCC	0.473000														5			12		0	0	0.016723	0	0
ZNF426	79088	broad.mit.edu	37	19	9639071	9639071	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:9639071A>T	uc002mlq.3	-	7	1914	c.1650T>A	c.(1648-1650)caT>caA	p.H550Q	ZNF426_uc010dws.3_Missense_Mutation_p.H512Q	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						GAATTTGTTCATGTCTTCGAA	0.388000														25			30		0	0	0.013726	0	0
MYO7A	4647	broad.mit.edu	37	11	76885844	76885844	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:76885844G>A	uc001oyb.2	+	16	2250	c.1978G>A	c.(1978-1980)Gga>Aga	p.G660R	MYO7A_uc010rsl.2_Missense_Mutation_p.G660R|MYO7A_uc010rsm.1_Missense_Mutation_p.G649R|MYO7A_uc001oyc.2_Missense_Mutation_p.G660R|MYO7A_uc001oyd.3_5'UTR	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	660	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.S659*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCGGTACTCAGGAATGATGGA	0.632000														15			7		0	0	0.001984	0	0
MSH6	2956	broad.mit.edu	37	2	48027726	48027726	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:48027726G>T	uc002rwd.4	+	3	2756	c.2604G>T	c.(2602-2604)atG>atT	p.M868I	MSH6_uc002rwc.2_Missense_Mutation_p.M868I|MSH6_uc010fbj.3_Missense_Mutation_p.M566I|MSH6_uc010yoj.2_Missense_Mutation_p.M566I	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	868					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAAAGTAATGTGTAAAATTA	0.373000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					30			13		4.36969e-10	4.54712e-10	0.016723	1	0
OTUD4	54726	broad.mit.edu	37	4	146072028	146072028	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:146072028G>A	uc003ika.4	-	11	941	c.803C>T	c.(802-804)cCc>cTc	p.P268L		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	332							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GCTTTCTGGGGGAGGTGCCTT	0.403000														20			12		0	0	0.020292	0	0
SAMD9	54809	broad.mit.edu	37	7	92731571	92731571	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:92731571G>A	uc003umf.3	-	2	4110	c.3840C>T	c.(3838-3840)ccC>ccT	p.P1280P	SAMD9_uc003umg.3_Silent_p.P1280P|SAMD9_uc022ahg.1_Silent_p.P1280P	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1280						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTGTTCCTGGGTTTTAGCA	0.299000														38			18		0	0	0.008871	0	0
GML	2765	broad.mit.edu	37	8	143928000	143928000	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:143928000C>A	uc003yxg.3	+	3	461	c.371C>A	c.(370-372)cCc>cAc	p.P124H		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	124	UPAR/Ly6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.P124P(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GACATGTTACCCGATGAAGTA	0.418000														74			14		1.3612e-06	1.4064e-06	0.003163	1	0
HYDIN	54768	broad.mit.edu	37	16	71220731	71220731	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:71220731C>T	uc002ezr.3	-	1	219	c.68G>A	c.(67-69)gGa>gAa	p.G23E	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.G23E|HYDIN_uc010vmc.2_Missense_Mutation_p.G40E|HYDIN_uc010vmd.2_Missense_Mutation_p.G50E|HYDIN_uc002ezw.4_Missense_Mutation_p.G40E	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	23										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCTTTGAAATCCTTTGAACAT	0.383000														23			7		0	0	0.001984	0	0
FILIP1	27145	broad.mit.edu	37	6	76022214	76022214	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:76022214G>A	uc010kbe.3	-	5	3873	c.3343C>T	c.(3343-3345)Ccc>Tcc	p.P1115S	FILIP1_uc003phy.1_Missense_Mutation_p.P1112S|FILIP1_uc003phz.3_Missense_Mutation_p.P1013S|FILIP1_uc003pia.3_Missense_Mutation_p.P1112S|FILIP1_uc003pib.1_Missense_Mutation_p.P864S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1112								p.H1115Y(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGATTCCTGGGAGAGCGAAGG	0.547000														25			18		0	0	0.008871	0	0
RFPL3	10738	broad.mit.edu	37	22	32756602	32756602	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:32756602G>A	uc003amj.3	+	1	942	c.737G>A	c.(736-738)gGg>gAg	p.G246E	RFPL3_uc010gwn.3_Missense_Mutation_p.G217E|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	246	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CAGCGAGTGGGGATTTTTCTG	0.512000														61			17		0	0	0.006122	0	0
MYO3A	53904	broad.mit.edu	37	10	26377279	26377279	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:26377279G>A	uc001isn.2	+	14	1867	c.1507G>A	c.(1507-1509)Gga>Aga	p.G503R	MYO3A_uc009xko.1_Missense_Mutation_p.G503R|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.G503R	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	503	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCGGTAGTGGGAGCACAGAT	0.393000														35			15		0	0	0.004990	0	0
ARAP2	116984	broad.mit.edu	37	4	36212084	36212084	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:36212084G>A	uc003gsq.2	-	5	1753	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	ARAP2_uc003gsr.1_Missense_Mutation_p.P472L	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	472					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GCAGGCATAGGGAGATATTGC	0.413000														20			7		0	0	0.001984	0	0
OR4D9	390199	broad.mit.edu	37	11	59282709	59282709	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:59282709G>A	uc010rkv.2	+	0	324	c.324G>A	c.(322-324)ggG>ggA	p.G108G		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ACCTTCTGGGGGGAGCAGACG	0.488000														64			17		0	0	0.004990	0	0
NUTF2	10204	broad.mit.edu	37	16	67904742	67904742	+	Silent	SNP	C	T	T	rs34777458	byFrequency	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:67904742C>T	uc002eup.3	+	4	409	c.310C>T	c.(310-312)Cta>Tta	p.L104L	EDC4_uc002eur.3_5'Flank|EDC4_uc010cer.3_5'Flank|EDC4_uc010vkg.1_5'Flank	NM_005796	NP_005787	P61970	NTF2_HUMAN	Homo sapiens nuclear transport factor 2 (NUTF2), mRNA.	104	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAGATGTTCCTATTAAAGAA	0.498000														113			22		0	0	0.004656	0	0
CDS1	1040	broad.mit.edu	37	4	85569815	85569815	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:85569815C>T	uc011ccv.2	+	12	1860	c.1362C>T	c.(1360-1362)atC>atT	p.I454I		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	454				TLKTHLIEKGILQPTLKV -> P (in Ref. 1; AAC50735).	signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AGAAAGGAATCCTACAACCCA	0.388000														21			4		0	0	0.009096	0	0
TRHDE	29953	broad.mit.edu	37	12	73050711	73050711	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:73050711G>A	uc001sxa.3	+	17	2884	c.2854G>A	c.(2854-2856)Gga>Aga	p.G952R		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	952					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.Y951C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTGAGGTATGGAGAAGCATT	0.294000														25			9		0	0	0.016723	0	0
HSPE1-MOB4	100529241	broad.mit.edu	37	2	198415074	198415074	+	Silent	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:198415074T>C	uc021vum.1	+	7	1058	c.618T>C	c.(616-618)gcT>gcC	p.A206A	HSPE1-MOB4_uc002uum.4_Silent_p.A138A|HSPE1-MOB4_uc002uun.4_Silent_p.A170A|HSPE1-MOB4_uc010fsn.3_Silent_p.A149A|HSPE1-MOB4_uc010fso.3_Silent_p.A71A|HSPE1-MOB4_uc010zgz.2_Silent_p.A71A|HSPE1-MOB4_uc021vun.1_Silent_p.A138A	NM_001202485	NP_001189414			Homo sapiens HSPE1-MOB4 readthrough (HSPE1-MOB4), mRNA.																		TTTCACATGCTTATTTTCATC	0.318000														15			10		0	0	0.006214	0	0
HSD17B3	3293	broad.mit.edu	37	9	99013747	99013747	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:99013747G>A	uc004awa.1	-	4	454	c.406C>T	c.(406-408)Cca>Tca	p.P136S	HSD17B3_uc010msc.1_Missense_Mutation_p.P136S	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	136					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AGAAGGTTTGGAAGCATTCCG	0.443000														40			7		0	0	0.003080	0	0
SPHK2	56848	broad.mit.edu	37	19	49131485	49131485	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:49131485C>T	uc002pjw.3	+	3	1706	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	SPHK2_uc010xzt.2_Missense_Mutation_p.P216S|SPHK2_uc002pjt.3_Missense_Mutation_p.P69S|SPHK2_uc002pjr.3_Missense_Mutation_p.P275S|SPHK2_uc002pjs.3_Missense_Mutation_p.P275S|SPHK2_uc002pju.3_Missense_Mutation_p.P239S|SPHK2_uc002pjv.3_Missense_Mutation_p.P239S|SPHK2_uc010xzu.1_Missense_Mutation_p.P239S	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	275					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGCATCCTCCCCTGCGGCTC	0.652000														26			13		0	0	0.003163	0	0
DENND4A	10260	broad.mit.edu	37	15	66025116	66025116	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:66025116G>A	uc002api.3	-	7	1466	c.1081C>T	c.(1081-1083)Cct>Tct	p.P361S	DENND4A_uc002aph.3_Missense_Mutation_p.P361S|DENND4A_uc002apj.3_Missense_Mutation_p.P361S|DENND4A_uc010ujj.1_Missense_Mutation_p.P361S	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	361	DENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGTCTCTGAGGAGATGGAAAA	0.343000														21			6		0	0	0.001984	0	0
PGM2	55276	broad.mit.edu	37	4	37847295	37847295	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:37847295T>G	uc011byb.1	+	7	1024	c.951T>G	c.(949-951)atT>atG	p.I317M	PGM2_uc011bya.1_Missense_Mutation_p.I178M|PGM2_uc011byc.1_Missense_Mutation_p.I157M	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	317					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AGGCCAGAATTGTTTTAGCTA	0.338000														75			31		0	0	0.017118	0	0
UBR1	197131	broad.mit.edu	37	15	43314912	43314912	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:43314912G>A	uc001zqq.3	-	25	2893	c.2827C>T	c.(2827-2829)Cat>Tat	p.H943Y	UBR1_uc010udk.1_Missense_Mutation_p.H943Y	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	943					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GAAGCCTTATGATAAAAGTCA	0.338000														50			16		0	0	0.004990	0	0
FRAS1	80144	broad.mit.edu	37	4	79188573	79188573	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:79188573T>C	uc003hlb.2	+	8	1408	c.968T>C	c.(967-969)gTg>gCg	p.V323A	FRAS1_uc003hkw.3_Missense_Mutation_p.V323A|FRAS1_uc003hky.1_Missense_Mutation_p.V27A|FRAS1_uc003hkz.3_Missense_Mutation_p.V27A	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	323	VWFC 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGCCAAAGTGGAGTGTGCC	0.547000														18			5		0	0	0.014758	0	0
TMCO4	255104	broad.mit.edu	37	1	20072116	20072116	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:20072116G>A	uc001bcn.3	-	9	1028	c.786C>T	c.(784-786)gcC>gcT	p.A262A	TMCO4_uc001bco.1_Silent_p.A262A|TMCO4_uc001bcp.1_Intron|TMCO4_uc009vpn.1_Silent_p.A262A|TMCO4_uc001bcq.1_Silent_p.A262A	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	262						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ACTCTTCAATGGCTCCCACTC	0.567000														121			43		0	0	0.007835	0	0
FPGS	2356	broad.mit.edu	37	9	130569923	130569923	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:130569923G>A	uc004bsg.1	+	7	750	c.700G>A	c.(700-702)Gat>Aat	p.D234N	FPGS_uc004bsh.1_Missense_Mutation_p.D51N|FPGS_uc011mal.1_Missense_Mutation_p.D208N|FPGS_uc004bsi.1_Missense_Mutation_p.D184N	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	234					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	p.D234N(2)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	CCTCCTGGGGGATACGGTGGA	0.602000														42			7		0	0	0.003080	0	0
ROR2	4920	broad.mit.edu	37	9	94486585	94486585	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:94486585C>T	uc004arj.2	-	8	2390	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	ROR2_uc004ari.1_Missense_Mutation_p.E591K	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	731	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|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.E731K(2)		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						CTGGGGAACTCGTTCCAGCAC	0.647000														67			23		0	0	0.014323	0	0
THSD7A	221981	broad.mit.edu	37	7	11446644	11446644	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:11446644G>A	uc021zzo.1	-	20	4207	c.3955C>T	c.(3955-3957)Caa>Taa	p.Q1319*	THSD7A_uc021zzn.1_Nonsense_Mutation_p.Q1317*	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1319	TSP type-1 13.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCATCACCTTGAAAGGGCTGG	0.468000										HNSCC(18;0.044)				12			6		0	0	0.001168	0	0
VPS36	51028	broad.mit.edu	37	13	52990024	52990024	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:52990024G>A	uc001vgs.3	-	13	1136	c.1102C>T	c.(1102-1104)Cgt>Tgt	p.R368C	VPS36_uc001vgq.3_Missense_Mutation_p.R310C	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	Homo sapiens vacuolar protein sorting 36 homolog (S. cerevisiae) (VPS36), mRNA.	368					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		GAGTCATCACGGCAAAGATGG	0.388000														149			54		0	0	0.014410	0	0
TTC17	55761	broad.mit.edu	37	11	43413392	43413392	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:43413392C>T	uc001mxi.3	+	4	623	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F	TTC17_uc001mxh.3_Missense_Mutation_p.L185F|TTC17_uc010rfj.2_Missense_Mutation_p.L128F	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	185							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GAGAGTTAATCTTTCTGCACC	0.353000														57			24		0	0	0.021523	0	0
FEN1	2237	broad.mit.edu	37	11	61563517	61563517	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:61563517C>T	uc021qkj.1	+	0	684	c.684C>T	c.(682-684)atC>atT	p.I228I	FEN1_uc001nsg.3_Silent_p.I228I	NM_004111	NP_004102	P39748	FEN1_HUMAN	Homo sapiens flap structure-specific endonuclease 1 (FEN1), mRNA.	228	I-domain.				DNA replication, removal of RNA primer|S phase of mitotic cell cycle|UV protection|base-excision repair|double-strand break repair|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						ATCTGTGCATCCTGCTAGGCA	0.567000								Editing and processing nucleases						43			20		0	0	0.010504	0	0
MARK3	4140	broad.mit.edu	37	14	103969316	103969316	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:103969316C>T	uc001ymz.4	+	17	2680	c.2014C>T	c.(2014-2016)Ccc>Tcc	p.P672S	MARK3_uc001ymx.4_Missense_Mutation_p.P663S|MARK3_uc001ymw.4_Missense_Mutation_p.P648S|MARK3_uc001yna.4_Missense_Mutation_p.P632S|MARK3_uc001ymy.4_Missense_Mutation_p.P578S|MARK3_uc010awp.3_Missense_Mutation_p.P671S|MARK3_uc010tyb.2_Missense_Mutation_p.P467S|MARK3_uc010awq.3_Missense_Mutation_p.P245S|MARK3_uc001ynd.3_Missense_Mutation_p.P80S	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	672							ATP binding|protein binding|protein serine/threonine kinase activity	p.V671M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TTCAATGGATCCCGGGGACAT	0.507000														34			13		0	0	0.016723	0	0
HYDIN	54768	broad.mit.edu	37	16	70995865	70995865	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:70995865G>A	uc002ezr.3	-	37	6113	c.5962C>T	c.(5962-5964)Caa>Taa	p.Q1988*		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1989										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGGTTACTTTGGAAAATGATT	0.433000														37			11		0	0	0.003163	0	0
AK094599	0	broad.mit.edu	37	2	133070502	133070502	+	RNA	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:133070502G>A	uc002ttk.1	+	2		c.156G>A								Homo sapiens cDNA FLJ37280 fis, clone BRAMY2012881.																		GGCAGTATTGGATAAAGCCCA	0.458000														71			5		0	0	0.008291	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979533	68979533	+	Silent	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:68979533A>G	uc009xpn.1	-	5	798	c.675T>C	c.(673-675)tgT>tgC	p.C225C	CTNNA3_uc001jmw.2_Silent_p.C225C|CTNNA3_uc001jmx.4_Silent_p.C225C|CTNNA3_uc009xpo.1_Silent_p.C85C|CTNNA3_uc001jna.2_Silent_p.C237C	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	225					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AATGCTCCAAACAAGCTGAAC	0.423000														31			17		0	0	0.008871	0	0
OTOF	9381	broad.mit.edu	37	2	26725235	26725235	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:26725235C>T	uc002rhk.3	-	6	770	c.643G>A	c.(643-645)Gga>Aga	p.G215R	OTOF_uc010ylb.1_Non-coding_Transcript	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	215					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATCCAGTCCATCTCCTAGC	0.577000														29			15		0	0	0.007413	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686637	108686637	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:108686637C>T	uc009zuw.3	-	2	294	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	CMKLR1_uc001tmw.3_Missense_Mutation_p.E35K|CMKLR1_uc001tmv.3_Missense_Mutation_p.E33K|CMKLR1_uc009zuv.3_Missense_Mutation_p.E35K|CMKLR1_uc021rdj.1_Missense_Mutation_p.E33K	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	35					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ACCCTGGCTTCCAAGGGGGAT	0.483000														30			13		0	0	0.016723	0	0
C3	718	broad.mit.edu	37	19	6707097	6707097	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:6707097G>A	uc002mfm.3	-	16	2297	c.2235C>T	c.(2233-2235)ggC>ggT	p.G745G		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	745					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCTGGCCAGGCCCAGGTGGC	0.672000														11			27		0	0	0.007291	0	0
QSER1	79832	broad.mit.edu	37	11	32956278	32956278	+	Silent	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:32956278T>C	uc001mty.3	+	3	3354	c.3087T>C	c.(3085-3087)ggT>ggC	p.G1029G	QSER1_uc001mtz.1_Silent_p.G790G|QSER1_uc001mua.3_Silent_p.G534G	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1029										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)					CCTTAGGGGGTGACGACAGTG	0.423000														9			6		0	0	0.001984	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862158	25862158	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:25862158C>T	uc003nfk.4	-	3	513	c.403G>A	c.(403-405)Gga>Aga	p.G135R	SLC17A3_uc003nfi.4_Intron|SLC17A3_uc011djz.1_Missense_Mutation_p.G135R|SLC17A3_uc011dka.1_Intron	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	277					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CCTACTCTTCCAGCCAGGTAT	0.483000														12			5		0	0	0.001168	0	0
ADD2	119	broad.mit.edu	37	2	70933534	70933534	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:70933534C>T	uc021vjc.1	-	2	272	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.E3K|ADD2_uc002sgz.3_Missense_Mutation_p.E3K|ADD2_uc010fdt.2_Missense_Mutation_p.E3K|ADD2_uc002shc.2_Missense_Mutation_p.E3K|ADD2_uc010fdu.2_Missense_Mutation_p.E19K	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	3					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ACCGTCTCTTCGCTCATTTTC	0.617000														62			25		0	0	0.006320	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658807	49658807	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:49658807G>A	uc001jgu.3	-	8	1710	c.1413C>T	c.(1411-1413)tcC>tcT	p.S471S	ARHGAP22_uc001jgs.3_Silent_p.S365S|ARHGAP22_uc001jgt.3_Silent_p.S455S|ARHGAP22_uc010qgl.2_Silent_p.S412S|ARHGAP22_uc010qgm.2_Silent_p.S461S|ARHGAP22_uc001jgv.3_Silent_p.S153S|ARHGAP22_uc001jgr.3_Silent_p.S172S	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	455	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCGCCGGAGGAGATGATGG	0.682000														4			3		0	0	0.004672	0	0
KCNH6	81033	broad.mit.edu	37	17	61623198	61623198	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:61623198C>T	uc002jay.3	+	13	3000	c.2920C>T	c.(2920-2922)Ccc>Tcc	p.P974S	KCNH6_uc010wpl.2_Missense_Mutation_p.P815S|KCNH6_uc010wpm.2_Missense_Mutation_p.P938S|KCNH6_uc002jaz.1_Missense_Mutation_p.P885S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	974					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGGCTCTGTTCCCAAGCAGCT	0.562000														129			25		0	0	0.006320	0	0
ATP13A4	84239	broad.mit.edu	37	3	193174929	193174929	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:193174929C>T	uc003ftd.3	-	15	1883	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	ATP13A4_uc003fte.1_Missense_Mutation_p.G592E|ATP13A4_uc011bsr.1_Missense_Mutation_p.G63E|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	592					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GATTGCAATTCCTTCCACTGG	0.473000														63			28		0	0	0.019004	0	0
EFCAB7	84455	broad.mit.edu	37	1	63997598	63997598	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:63997598G>C	uc001dbf.3	+	2	589	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	99							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TTTAAGGAAGGAAAAACCTAC	0.313000														18			7		0	0	0.003080	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792307	137792307	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:137792307G>A	uc003vtz.3	+	6	923	c.836G>A	c.(835-837)aGg>aAg	p.R279K	AKR1D1_uc011kqf.2_Missense_Mutation_p.R238K|AKR1D1_uc011kqe.1_Missense_Mutation_p.R279K|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	279					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						AATCTTGAAAGGATCAAAGAA	0.358000														54			20		0	0	0.008871	0	0
CEP55	55165	broad.mit.edu	37	10	95276761	95276761	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:95276761T>C	uc001kiq.4	+	5	1053	c.749T>C	c.(748-750)gTt>gCt	p.V250A	CEP55_uc009xug.3_Missense_Mutation_p.V250A	NM_018131	NP_060601	Q53EZ4	CEP55_HUMAN	Homo sapiens centrosomal protein 55kDa (CEP55), transcript variant 1, mRNA.	250					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GATCTTGAGGTTGAACGACAA	0.363000														31			11		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179545055	179545055	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:179545055G>A	uc021vsy.1	-	135	29837	c.29612C>T	c.(29611-29613)cCc>cTc	p.P9871L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6532L|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10798	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCTTCATGGGCACTTGAAA	0.393000														60			23		0	0	0.005443	0	0
DAB1	1600	broad.mit.edu	37	1	57537993	57537993	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:57537993C>T	uc009vzx.1	-	4	721	c.401G>A	c.(400-402)gGg>gAg	p.G134E	DAB1_uc001cyt.1_Missense_Mutation_p.G134E|DAB1_uc001cyq.1_Missense_Mutation_p.G134E|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.G134E|DAB1_uc001cys.1_Missense_Mutation_p.G134E	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	134	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCTGTGATTCCCTTCCTTCCC	0.478000														28			8		0	0	0.008291	0	0
KRT8P41	283102	broad.mit.edu	37	11	9116811	9116811	+	RNA	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:9116811C>T	uc010rbv.1	+	0		c.902C>T								Homo sapiens keratin 8 pseudogene 41 (KRT8P41), non-coding RNA.																		AGCATCATCCCTGAGGTCAAG	0.572000														26			6		0	0	0.001168	0	0
SLC38A4	55089	broad.mit.edu	37	12	47178369	47178369	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:47178369C>T	uc001rpi.2	-	6	848	c.449G>A	c.(448-450)gGa>gAa	p.G150E	SLC38A4_uc001rpj.2_Missense_Mutation_p.G150E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G150E	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	150					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.P149P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TCCAATTTTTCCCGGCCATCC	0.333000														18			8		0	0	0.006214	0	0
SPOPL	339745	broad.mit.edu	37	2	139308526	139308526	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:139308526C>T	uc002tvh.3	+	3	654	c.254C>T	c.(253-255)tCc>tTc	p.S85F		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	85	MATH.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GACTACTTGTCCTTATATTTG	0.358000														49			14		0	0	0.020292	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45244881	45244881	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:45244881G>A	uc003bfd.3	+	14	1725	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.R395Q|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.R309Q|PRR5-ARHGAP8_uc003bfi.3_Missense_Mutation_p.R273Q|PRR5-ARHGAP8_uc010gzv.3_Missense_Mutation_p.R273Q|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.R304Q|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.R273Q|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						ACCTTCCTGCGAGAGCTGCCC	0.612000														120			38		0	0	0.013114	0	0
CLSTN3	9746	broad.mit.edu	37	12	7290645	7290645	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:7290645C>T	uc001qss.3	+	6	1879	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	CLSTN3_uc001qsr.3_Silent_p.F435F	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	435					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CAGTCAAGTTCCTCTGGAAGC	0.587000														52			14		0	0	0.020292	0	0
TFEB	7942	broad.mit.edu	37	6	41658525	41658526	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:41658525_41658526GG>AA	uc021yzl.1	-	1	545_546	c.544_545CC>TT	c.(544-546)ccg>TTg	p.P182L	TFEB_uc003oqs.1_Missense_Mutation_p.P115L|TFEB_uc003oqt.1_Missense_Mutation_p.P115L|TFEB_uc003oqu.1_Missense_Mutation_p.P115L|TFEB_uc003oqv.1_Missense_Mutation_p.P115L|TFEB_uc010jxo.1_Missense_Mutation_p.P115L|TFEB_uc003oqx.1_Missense_Mutation_p.P115L|TFEB_uc003oqr.1_Intron|TFEB_uc003oqw.1_Missense_Mutation_p.P115L	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	115					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TGGGGGTTTCGGAGAGCCCTGG	0.634000			T	ALPHA	renal (childhood epithelioid)									36			7		0	0	0.004672	0	0
GGT7	2686	broad.mit.edu	37	20	33449295	33449295	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:33449295G>A	uc002xay.3	-	3	671	c.628C>T	c.(628-630)Cca>Tca	p.P210S	GGT7_uc002xaz.1_Missense_Mutation_p.P227S|GGT7_uc002xba.1_Missense_Mutation_p.P210S	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	210					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGGGCCCCTGGTGCGGACTCC	0.567000														47			20		0	0	0.008871	0	0
DLL4	54567	broad.mit.edu	37	15	41229024	41229024	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:41229024G>A	uc001zng.2	+	8	2175	c.1839G>A	c.(1837-1839)ttG>ttA	p.L613L		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	613					Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACCACACATTGGACTATAATC	0.557000														41			21		0	0	0.014323	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999630	108999630	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:108999630C>T	uc002tea.1	+	3	848	c.475C>T	c.(475-477)Cca>Tca	p.P159S	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Intron	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	159					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCTTCCTGCTCCAGGAACATG	0.418000														64			28		0	0	0.005443	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887647	30887647	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:30887647C>T	uc003aid.2	-	10	1094	c.994G>A	c.(994-996)Gag>Aag	p.E332K	SEC14L4_uc011akz.1_Missense_Mutation_p.E332K|SEC14L4_uc003aie.2_Missense_Mutation_p.E317K|SEC14L4_uc003aif.2_Missense_Mutation_p.E278K	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	332	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity	p.E332D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TCCGTCATCTCCCTAGCACTC	0.607000														93			30		0	0	0.010818	0	0
C10orf71	118461	broad.mit.edu	37	10	50532358	50532358	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:50532358A>C	uc021pqb.1	+	0	1768	c.1768A>C	c.(1768-1770)Act>Cct	p.T590P	C10orf71_uc021pqa.1_Missense_Mutation_p.T589P|C10orf71_uc021pqc.1_Missense_Mutation_p.T590P	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	590										endometrium(1)	1						CAGCTATCTAACTCTTAGCAC	0.532000														24			8		0	0	0.006214	0	0
LRIT3	345193	broad.mit.edu	37	4	110791013	110791013	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:110791013C>T	uc003hzx.4	+	2	1166	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	LRIT3_uc003hzw.4_Nonsense_Mutation_p.Q187*	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	325						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GTGGGATGTCCAGCCGGGATC	0.468000														110			43		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237491	140237491	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:140237491C>T	uc003lhx.2	+	0	1858	c.1858C>T	c.(1858-1860)Ccg>Tcg	p.P620S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.P620S	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACGCATCCCGTTTCGCGT	0.632000														49			10		0	0	0.010729	0	0
TMEM209	84928	broad.mit.edu	37	7	129832632	129832632	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:129832632G>A	uc003vpn.2	-	5	728	c.605C>T	c.(604-606)cCg>cTg	p.P202L	TMEM209_uc010lmc.1_Missense_Mutation_p.P202L	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	202	Ser-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GGTAGGGTACGGAGAAGGAGG	0.408000														54			7		0	0	0.003080	0	0
DUSP22	56940	broad.mit.edu	37	6	292544	292544	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:292544G>A	uc003msx.3	+	0	444	c.5G>A	c.(4-6)gGg>gAg	p.G2E	DUSP22_uc011dhn.1_Missense_Mutation_p.G2E	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	2					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G2R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCCACCATGGGGAATGGGATG	0.687000														33			5		0	0	0.001984	0	0
C14orf181	0	broad.mit.edu	37	14	69262645	69262645	+	Silent	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:69262645G>T	uc021rvf.1	-	0	367	c.367C>A	c.(367-369)Cga>Aga	p.R123R	ZFP36L1_uc001xki.2_5'Flank|ZFP36L1_uc001xkh.2_5'Flank|ZFP36L1_uc021rve.1_Intron					Synthetic construct DNA, clone: pF1KE0588, Homo sapiens C14orf181 gene for chromosome 14 open reading frame 181, without stop codon, in Flexi system.											NS(1)|cervix(1)|lung(2)|ovary(1)|urinary_tract(1)	6				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)		AGACGTGGTCGACAGGTGCCC	0.751000														18			8		0.00307968	0.0031471	0.003080	1	0
DNAH7	56171	broad.mit.edu	37	2	196722274	196722274	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:196722274C>T	uc002utj.4	-	43	8342	c.8241G>A	c.(8239-8241)agG>agA	p.R2747R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2747	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.M2746I(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTGCAGAAACCTCATGTCAC	0.383000														21			6		0	0	0.001168	0	0
CTTN	2017	broad.mit.edu	37	11	70275245	70275245	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:70275245G>A	uc001opv.4	+	13	1322	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	CTTN_uc001opu.3_Silent_p.E335E|CTTN_uc001opw.4_Silent_p.E335E|CTTN_uc010rqm.2_Silent_p.E56E|CTTN_uc001opx.3_Silent_p.E56E	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	372						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CGGAGGCGGAGAGAGCCCAGC	0.597000														48			10		0	0	0.006214	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137088949	137088949	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:137088949C>T	uc003lbt.3	-	0	1091	c.807G>A	c.(805-807)aaG>aaA	p.K269K	MYOT_uc011cye.2_Intron	NM_006805	NP_006796	Q13151	ROA0_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0), mRNA.	269	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			cgccgccgcTCTTCATGGGCC	0.677000														23			14		0	0	0.004990	0	0
POLD3	10714	broad.mit.edu	37	11	74329644	74329644	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:74329644C>T	uc001ovf.1	+	5	530	c.455C>T	c.(454-456)tCc>tTc	p.S152F	POLD3_uc009yua.1_Missense_Mutation_p.S46F	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	152					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					TCTTCGTCTTCCAAAAAGTTT	0.463000														75			29		0	0	0.007291	0	0
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:91967356T>A	uc001doe.3	+	1	248	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_uc001dof.3_Nonsense_Mutation_p.L28*|CDC7_uc010osw.2_Nonsense_Mutation_p.L28*|CDC7_uc009wdc.3_Nonsense_Mutation_p.L28*	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	28					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403000														142			5		0	0	0.014758	0	0
TBXA2R	6915	broad.mit.edu	37	19	3595724	3595724	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:3595724G>A	uc002lyg.2	-	2	1381	c.994C>T	c.(994-996)Ctc>Ttc	p.L332F	TBXA2R_uc021umv.1_Intron	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	332					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TGGGGCTGGAGGGACAGCGAC	0.706000														4			11		0	0	0.010729	0	0
BCAN	63827	broad.mit.edu	37	1	156621324	156621324	+	Silent	SNP	C	T	T	rs150989682	byFrequency	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:156621324C>T	uc001fpp.3	+	6	1476	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	BCAN_uc001fpo.3_Silent_p.I380I	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	380					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.I380M(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAGAGGCTATCGTCACAGTGA	0.587000														27			34		0	0	0.012213	0	0
TMEM14E	645843	broad.mit.edu	37	3	152058520	152058520	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:152058520C>T	uc010hvo.3	-	0	260	c.174G>A	c.(172-174)cgG>cgA	p.R58R	MBNL1_uc003ezh.3_Intron|MBNL1_uc003ezi.3_Intron|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezm.3_Intron|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Intron|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN	Homo sapiens transmembrane protein 14E (TMEM14E), mRNA.	58						integral to membrane				lung(1)	1						CCTTTGGATTCCGTGATGGCT	0.458000														11			6		0	0	0.001168	0	0
ABCB1	5243	broad.mit.edu	37	7	87173569	87173569	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:87173569G>A	uc003uiz.2	-	17	2580	c.2087C>T	c.(2086-2088)tCc>tTc	p.S696F	ABCB1_uc011khc.2_Missense_Mutation_p.S632F	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	696					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCTCCAAAAGGAAACTGGAGG	0.328000														49			25		0	0	0.009535	0	0
ABCC11	85320	broad.mit.edu	37	16	48249135	48249135	+	Missense_Mutation	SNP	C	T	T	rs150392452		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:48249135C>T	uc002eff.1	-	6	1422	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	ABCC11_uc002efg.1_Missense_Mutation_p.E358K|ABCC11_uc002efh.1_Missense_Mutation_p.E358K|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	358	ABC transmembrane type-1 1.					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)				AATGGTTTCTCCCATGTGTAC	0.478000														43			11		0	0	0.010729	0	0
HEPHL1	341208	broad.mit.edu	37	11	93815599	93815599	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:93815599G>A	uc001pep.2	+	9	1889	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	578	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AATAGACAAGGAGTTTTACCT	0.353000														12			9		0	0	0.008291	0	0
NRIP1	8204	broad.mit.edu	37	21	16340213	16340213	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:16340213G>A	uc021whl.1	-	0	301	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	NRIP1_uc002yjx.2_Silent_p.L101L	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	101	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GAATCAGACAGCCTCTTCCGC	0.458000														29			9		0	0	0.008291	0	0
HK3	3101	broad.mit.edu	37	5	176314516	176314516	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:176314516G>A	uc003mfa.3	-	10	1628	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	HK3_uc003mez.3_Silent_p.L68L	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	512	Catalytic.			LR -> SE (in Ref. 4; AAC50422).	glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCCCCTCGGAGCCCCTTGG	0.657000														46			15		0	0	0.020292	0	0
TCF23	150921	broad.mit.edu	37	2	27375569	27375569	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:27375569G>A	uc010ylg.2	+	2	536	c.479G>A	c.(478-480)cGa>cAa	p.R160Q		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	160					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCCGATGCGATCTCGTCTC	0.557000														41			15		0	0	0.004990	0	0
NLRP9	338321	broad.mit.edu	37	19	56223890	56223890	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:56223890C>T	uc002qly.3	-	6	2596	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	856						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTTCAGTTTCCCATTGCAAA	0.448000														41			11		0	0	0.010729	0	0
OR4K14	122740	broad.mit.edu	37	14	20483185	20483185	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:20483185G>T	uc010tky.2	-	0	168	c.168C>A	c.(166-168)caC>caA	p.H56Q		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TAGGGGAGGAGTGCAGGCAGG	0.448000														29			7		5.4927e-09	5.70212e-09	0.004482	1	0
PLA2G4A	5321	broad.mit.edu	37	1	186909142	186909142	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:186909142G>A	uc001gsc.3	+	9	1154	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	PLA2G4A_uc010pos.2_Missense_Mutation_p.E257K	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	317	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CAGTTTGAAGGAAAAAGTTAA	0.358000														7			9		0	0	0.008291	0	0
DCC	1630	broad.mit.edu	37	18	50912500	50912500	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:50912500C>T	uc002lfe.2	+	15	3063	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	DCC_uc010xdr.1_Missense_Mutation_p.S664F|DCC_uc010dpf.2_Missense_Mutation_p.S471F	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	816					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)		ACCACCAGGTCTATAACCGGT	0.333000														30			10		0	0	0.008291	0	0
MTR	4548	broad.mit.edu	37	1	237052538	237052538	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:237052538T>G	uc001hyi.4	+	27	3332	c.2909T>G	c.(2908-2910)gTg>gGg	p.V970G	MTR_uc010pxw.2_Missense_Mutation_p.V563G|MTR_uc010pxx.2_Missense_Mutation_p.V919G|MTR_uc010pxy.2_Missense_Mutation_p.V824G	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	970	AdoMet activation.				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)	CAGAAGCTGGTGGACTACATT	0.498000														97			6		0	0	0.003080	0	0
RPTN	126638	broad.mit.edu	37	1	152129412	152129412	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:152129412C>T	uc001ezs.1	-	2	228	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	55	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AAGATGGTTTCCACAGTCTCT	0.418000														20			18		0	0	0.008871	0	0
KRT77	374454	broad.mit.edu	37	12	53088463	53088463	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:53088463C>T	uc001saw.3	-	4	1056	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	KRT77_uc009zmi.3_Missense_Mutation_p.E101K	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	343	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCAATCAGTTCATACTGGGTC	0.567000														29			12		0	0	0.010729	0	0
USP29	57663	broad.mit.edu	37	19	57641786	57641786	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:57641786G>A	uc002qny.3	+	3	2099	c.1743G>A	c.(1741-1743)atG>atA	p.M581I	USP29_uc021vci.1_Missense_Mutation_p.M581I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	581					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACCATCAATGAAGCTGACCT	0.488000														50			17		0	0	0.004007	0	0
SPTBN5	51332	broad.mit.edu	37	15	42147787	42147787	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:42147787G>A	uc001zos.3	-	53	9406	c.9073C>T	c.(9073-9075)Cag>Tag	p.Q3025*		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	3060					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTGCTGTCTGCTGCAGCCGC	0.632000														17			11		0	0	0.010729	0	0
CST6	1474	broad.mit.edu	37	11	65780821	65780821	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:65780821C>T	uc001ogr.3	+	2	454	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	CST6_uc001ogs.1_3'UTR	NM_001323	NP_001314	Q15828	CYTM_HUMAN	Homo sapiens cystatin E/M (CST6), mRNA.	134					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						CCTTGTGGTTCCCTGGCAGAA	0.587000														90			29		0	0	0.010818	0	0
SLC43A1	8501	broad.mit.edu	37	11	57263631	57263631	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:57263631A>G	uc001nkk.3	-	6	683	c.565T>C	c.(565-567)Tac>Cac	p.Y189H	SLC43A1_uc001nkl.3_Missense_Mutation_p.Y189H	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	189					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CCGGCATCGTAGATCAGCTGT	0.597000														27			12		0	0	0.020292	0	0
NCOA6	23054	broad.mit.edu	37	20	33328820	33328820	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:33328820G>A	uc002xav.3	-	11	7811	c.5240C>T	c.(5239-5241)cCt>cTt	p.P1747L	NCOA6_uc002xaw.3_Missense_Mutation_p.P1747L|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.P1747L|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1747	EP300/CRSP3-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.P1746S(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGACGTACAAGGAGGGGAAGG	0.542000														63			15		0	0	0.020292	0	0
GFRA1	2674	broad.mit.edu	37	10	117849350	117849350	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:117849350T>A	uc001lcj.3	-	8	1797	c.1099A>T	c.(1099-1101)Acc>Tcc	p.T367S	GFRA1_uc001lci.3_Missense_Mutation_p.T362S|GFRA1_uc009xyr.3_Missense_Mutation_p.T362S	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	367	Poly-Thr.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	p.R367P(1)|p.R367W(1)		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)		GCAGTGGTGGTAGTGGCAGTG	0.532000														29			17		0	0	0.004990	0	0
CADM1	23705	broad.mit.edu	37	11	115099882	115099882	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:115099882G>A	uc001ppi.4	-	4	801	c.672C>T	c.(670-672)caC>caT	p.H224H	CADM1_uc001ppf.4_Silent_p.H224H|CADM1_uc001ppk.4_Silent_p.H224H|CADM1_uc001ppj.4_Silent_p.H224H|CADM1_uc001ppl.3_Silent_p.H224H	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	224	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGACCGCAGGGTGCTCCACCT	0.532000														17			10		0	0	0.006214	0	0
FAM71B	153745	broad.mit.edu	37	5	156590543	156590543	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:156590543C>T	uc003lwn.3	-	1	833	c.733G>A	c.(733-735)Gct>Act	p.A245T		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	245	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCGCACTAGCCGTTCCGTGG	0.587000														186			179		0	0	0.014410	0	0
KRT77	374454	broad.mit.edu	37	12	53096950	53096950	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:53096950C>T	uc001saw.3	-	0	298	c.269G>A	c.(268-270)gGa>gAa	p.G90E	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	90	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCCTCCAAATCCCCCTACTCC	0.577000														12			4		0	0	0.014758	0	0
NEBL	10529	broad.mit.edu	37	10	21120162	21120162	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:21120162A>C	uc001iqi.3	-	15	2031	c.1634T>G	c.(1633-1635)aTc>aGc	p.I545S	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	545					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGCTCGAAGGATATCTGGGAT	0.378000														31			14		0	0	0.003163	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80918991	80918991	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:80918991C>T	uc002kgg.1	-	7	681	c.667G>A	c.(667-669)Gac>Aac	p.D223N	B3GNTL1_uc002kgf.1_Missense_Mutation_p.D112N|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	223							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AGACTCTGGTCCACGCGGATG	0.697000														22			18		0	0	0.007413	0	0
TXK	7294	broad.mit.edu	37	4	48073661	48073661	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:48073661C>T	uc003gxx.4	-	13	1474	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Missense_Mutation_p.G150E	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	463	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AGGCATTTTTCCTTCTGTAAA	0.383000														87			22		0	0	0.014323	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058807	152058807	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:152058807C>T	uc001ezo.1	-	2	1416	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	451							calcium ion binding	p.G451E(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGATCTCCTCCTTCTGAGCTT	0.443000														83			61		0	0	0.014410	0	0
NLRP8	126205	broad.mit.edu	37	19	56466958	56466958	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:56466958G>A	uc002qmh.3	+	2	1605	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	NLRP8_uc010etg.3_Missense_Mutation_p.E512K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	512	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACTTTTCAGGAATTTTTTGC	0.468000														132			44		0	0	0.014410	0	0
AXDND1	126859	broad.mit.edu	37	1	179494559	179494559	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:179494559G>A	uc001gmo.3	+	21	2974	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	863	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACTTCAGGAGGAAAATAAAGA	0.343000														18			5		0	0	0.001984	0	0
CLEC5A	23601	broad.mit.edu	37	7	141629928	141629928	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:141629928C>T	uc003vwv.1	-	6	740	c.543G>A	c.(541-543)agG>agA	p.R181R	CLEC5A_uc011krm.1_3'UTR|CLEC5A_uc003vww.1_Silent_p.R180R|CLEC5A_uc010lnq.1_Silent_p.R158R|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	181	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCTCACAGATCCTGCGGTAGC	0.413000														34			9		0	0	0.006214	0	0
TXNDC16	57544	broad.mit.edu	37	14	52899126	52899126	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:52899126T>A	uc001wzs.3	-	20	2823	c.2374A>T	c.(2374-2376)Att>Ttt	p.I792F	TXNDC16_uc010tqu.2_Missense_Mutation_p.I787F|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	792					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AGAGTTTCAATCGGTTCTTTT	0.363000														45			18		0	0	0.006122	0	0
NEGR1	257194	broad.mit.edu	37	1	72058606	72058606	+	Silent	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:72058606T>G	uc001dfw.3	-	5	1062	c.834A>C	c.(832-834)acA>acC	p.T278T	NEGR1_uc001dfv.3_Silent_p.T150T|NEGR1_uc010oqs.2_Silent_p.T234T	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	278	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GAATGGATCTTGTGCTAAAAT	0.413000														22			5		0	0	0.001168	0	0
CCDC158	339965	broad.mit.edu	37	4	77317556	77317556	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:77317556G>A	uc003hkb.4	-	2	307	c.154C>T	c.(154-156)Cct>Tct	p.P52S	CCDC158_uc003hkd.3_Missense_Mutation_p.P52S	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	52										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GGGAAAAAAGGAACCTGTGTC	0.343000														22			9		0	0	0.010729	0	0
TCP11	6954	broad.mit.edu	37	6	35088743	35088743	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:35088743C>T	uc003okd.2	-	5	878	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	TCP11_uc003ojz.1_Missense_Mutation_p.E158K|TCP11_uc003oka.2_Missense_Mutation_p.E158K|TCP11_uc003okb.2_Missense_Mutation_p.E157K|TCP11_uc011dsu.1_Missense_Mutation_p.E215K|TCP11_uc003okc.2_Missense_Mutation_p.E157K|TCP11_uc011dsv.1_Missense_Mutation_p.E182K|TCP11_uc011dsw.1_Missense_Mutation_p.E187K	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	220					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ATGGAATGTTCCTGCAGGTGG	0.478000														210			76		0	0	0.014410	0	0
GPR125	166647	broad.mit.edu	37	4	22446706	22446706	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:22446706T>C	uc003gqm.1	-	5	861	c.596A>G	c.(595-597)cAt>cGt	p.H199R	GPR125_uc010ieo.1_Missense_Mutation_p.H73R|GPR125_uc003gqn.1_5'Flank|GPR125_uc003gqo.3_Missense_Mutation_p.H199R	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	199	LRRCT.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TACCCAGCGATGCATCCACAG	0.433000														11			9		0	0	0.006214	0	0
FNDC3B	64778	broad.mit.edu	37	3	172061888	172061888	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:172061888C>T	uc003fhy.3	+	18	2262	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	FNDC3B_uc003fhz.4_Missense_Mutation_p.S697L	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	697	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane		p.S697L(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GTTCCTGCATCGGAAAGTGGC	0.493000														87			25		0	0	0.021523	0	0
IGSF21	84966	broad.mit.edu	37	1	18702874	18702874	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:18702874G>A	uc001bau.2	+	6	1469	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	IGSF21_uc001bav.2_Silent_p.L183L	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	362	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGAGGATTCTGGTCCATGGGT	0.592000														100			49		0	0	0.014410	0	0
NPAT	4863	broad.mit.edu	37	11	108062855	108062855	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:108062855A>T	uc001pjz.4	-	3	382	c.280T>A	c.(280-282)Tct>Act	p.S94T	NPAT_uc001pka.3_5'Flank	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	94	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CTGATCTGAGAAAGTGTATGG	0.333000														61			20		0	0	0.018920	0	0
STON2	85439	broad.mit.edu	37	14	81862472	81862472	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:81862472C>T	uc010tvu.2	-	1	337	c.139G>A	c.(139-141)Gag>Aag	p.E47K	STON2_uc001xvk.1_Missense_Mutation_p.E47K|STON2_uc010atc.1_Missense_Mutation_p.E47K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	47					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GAGGAGCTCTCGGACTGGTCT	0.577000														40			19		0	0	0.007413	0	0
LOC649330	649330	broad.mit.edu	37	1	12907419	12907419	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:12907419C>T	uc010obf.2	-	1	950	c.724G>A	c.(724-726)Ggg>Agg	p.G242R	LOC649330_uc009vno.2_Missense_Mutation_p.G242R	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	242							nucleic acid binding|nucleotide binding										TCTGCACCCCCCTCAGACTCC	0.483000														116			34		0	0	0.015359	0	0
VCAM1	7412	broad.mit.edu	37	1	101186267	101186267	+	Silent	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:101186267A>G	uc001dti.3	+	1	521	c.300A>G	c.(298-300)gaA>gaG	p.E100E	VCAM1_uc010ouj.2_Intron|VCAM1_uc001dtj.3_Silent_p.E100E	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	100	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CAACTTGTGAATCTAGGAAAT	0.383000														7			7		0	0	0.001984	0	0
SPACA1	81833	broad.mit.edu	37	6	88757817	88757817	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:88757817C>T	uc003pmn.3	+	0	311	c.194C>T	c.(193-195)cCt>cTt	p.P65L		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	65						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TACGCTCCGCCTGAAACCGAG	0.642000														11			4		0	0	0.009096	0	0
CHAD	1101	broad.mit.edu	37	17	48545403	48545403	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:48545403T>A	uc010dbr.3	-	0	825	c.772A>T	c.(772-774)Aag>Tag	p.K258*	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Nonsense_Mutation_p.K258*|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	Homo sapiens chondroadherin (CHAD), mRNA.	258					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.E257*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GAGCTCACCTTCTCCAGGTTG	0.622000														42			43		0	0	0.009718	0	0
COMP	1311	broad.mit.edu	37	19	18895712	18895712	+	Silent	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:18895712T>C	uc002nke.3	-	15	1944	c.1908A>G	c.(1906-1908)caA>caG	p.Q636Q	COMP_uc002nkd.3_Silent_p.Q603Q|COMP_uc010xqj.2_Silent_p.Q583Q	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	636	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCACCTTGAGTTGGATGCCAG	0.617000														22			33		0	0	0.010818	0	0
GEM	2669	broad.mit.edu	37	8	95264409	95264409	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:95264409C>T	uc003ygi.3	-	3	575	c.451G>A	c.(451-453)Gac>Aac	p.D151N	GEM_uc003ygj.3_Missense_Mutation_p.D151N	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	151					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGGTATGCGTCCCCGACCTGC	0.522000														42			28		0	0	0.008361	0	0
PCDH15	65217	broad.mit.edu	37	10	55569283	55569283	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:55569283T>G	uc021pqw.1	-	35	4931	c.4536A>C	c.(4534-4536)aaA>aaC	p.K1512N	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Missense_Mutation_p.N1526T|PCDH15_uc010qht.2_Missense_Mutation_p.K1507N|PCDH15_uc021pqx.1_Missense_Mutation_p.N1524T	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAACCTTTGGTTTTTTAATTT	0.413000										HNSCC(58;0.16)				116			41		0	0	0.011902	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881744	228881744	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:228881744G>A	uc002vpq.2	-	6	3873	c.3826C>T	c.(3826-3828)Ccg>Tcg	p.P1276S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P1276S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P1276S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1276						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)		CTACTGACCGGCTGCACGCTT	0.507000														49			19		0	0	0.012319	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994883	140994883	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:140994883C>T	uc004fbt.3	+	3	2017	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P224S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	565							protein binding	p.F564C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCACTACTTTCCTCAGAGCCC	0.572000										HNSCC(15;0.026)				108			113		0	0	0.014410	0	0
FAM83E	54854	broad.mit.edu	37	19	49106801	49106801	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:49106801C>T	uc002pjn.2	-	3	1191	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	376										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGGCTTAGGTCCCACATGGAG	0.687000														24			11		0	0	0.010729	0	0
TMOD2	29767	broad.mit.edu	37	15	52065922	52065922	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:52065922C>T	uc002abk.3	+	3	518	c.297C>T	c.(295-297)atC>atT	p.I99I	TMOD2_uc002abl.4_Silent_p.I99I|TMOD2_uc010bfb.3_Silent_p.I55I	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	Homo sapiens tropomodulin 2 (neuronal) (TMOD2), transcript variant 1, mRNA.	99					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GAGTCTTTATCCCTAAAGAAA	0.418000														37			18		0	0	0.008871	0	0
OBP2A	29991	broad.mit.edu	37	9	138439043	138439043	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:138439043C>T	uc004cgc.3	+	2	268	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	OBP2A_uc004cgb.3_Nonsense_Mutation_p.Q76*|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Missense_Mutation_p.P31L			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	76					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TCGGTGCATCCAGAAGAAAAT	0.637000														57			13		0	0	0.020292	0	0
FAM134C	162427	broad.mit.edu	37	17	40734029	40734029	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:40734029G>A	uc002ial.2	-	8	1306	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	FAM134C_uc010wgq.1_Silent_p.V201V|FAM134C_uc002iam.1_Silent_p.V201V|FAM134C_uc010cyk.1_Silent_p.V304V	NM_178126	NP_835227	Q86VR2	F134C_HUMAN	Homo sapiens family with sequence similarity 134, member C (FAM134C), transcript variant 1, mRNA.	401						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TACCCTGGGAGACCAGGCTGG	0.652000														52			39		0	0	0.006230	0	0
THAP4	51078	broad.mit.edu	37	2	242572592	242572592	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:242572592G>A	uc002wbt.3	-	1	1273	c.980C>T	c.(979-981)tCc>tTc	p.S327F		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	327							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CTCGTTGATGGACATGGGGCT	0.642000														44			19		0	0	0.006122	0	0
LAMA4	3910	broad.mit.edu	37	6	112471788	112471788	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:112471788C>T	uc003pvu.2	-	16	2407	c.2098G>A	c.(2098-2100)Gga>Aga	p.G700R	LAMA4_uc003pvv.2_Missense_Mutation_p.G693R|LAMA4_uc003pvt.2_Missense_Mutation_p.G693R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	700	Domain II and I.				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)		GCTAGGGCTCCACCCACACGC	0.502000														50			35		0	0	0.017118	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656203	167656203	+	Missense_Mutation	SNP	C	T	T	rs141348000		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:167656203C>T	uc011cjq.1	-	9	1264	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	SPOCK3_uc021xuf.1_Missense_Mutation_p.D394N|SPOCK3_uc011cjr.1_Missense_Mutation_p.D274N|SPOCK3_uc003iri.1_Missense_Mutation_p.D394N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D343N|SPOCK3_uc003irj.1_Missense_Mutation_p.D391N|SPOCK3_uc011cjt.1_Missense_Mutation_p.D302N|SPOCK3_uc011cjp.2_Missense_Mutation_p.D351N|SPOCK3_uc011cju.1_Missense_Mutation_p.D298N|SPOCK3_uc011cjv.1_Missense_Mutation_p.D296N	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	394	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.E402*(1)|p.D391N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcatgaaaatcgccactagca	0.343000														16			9		0	0	0.010729	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439530	150439530	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:150439530G>A	uc022apw.1	+	5	1055	c.915G>A	c.(913-915)ggG>ggA	p.G305G	GIMAP1-GIMAP5_uc003whr.2_Silent_p.G101G	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		AGAACATCGGGGACTGCTACC	0.577000														91			17		0	0	0.007413	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136877	40136877	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:40136877C>T	uc021qgf.1	-	0	966	c.966G>A	c.(964-966)tcG>tcA	p.S322S	LRRC4C_uc001mxc.1_Silent_p.S318S|LRRC4C_uc001mxd.1_Silent_p.S318S|LRRC4C_uc001mxa.1_Silent_p.S322S|LRRC4C_uc001mxb.1_Silent_p.S318S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	322	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.S322S(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGCTGTGTTCGAGGGGGCCA	0.493000														25			10		0	0	0.006214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720218	140720218	+	Silent	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:140720218C>A	uc003ljk.2	+	0	1865	c.1680C>A	c.(1678-1680)ccC>ccA	p.P560P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.P560P	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	562	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCGCCCGAGATCCTGT	0.627000														271			50		2.74695e-27	2.88375e-27	0.014410	1	0
GPR174	84636	broad.mit.edu	37	X	78426957	78426957	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:78426957C>T	uc004edg.1	+	0	489	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	151						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CCTGTGTACTCTTTCCACTCC	0.483000										HNSCC(63;0.18)				4			13		0	0	0.016723	0	0
IL37	27178	broad.mit.edu	37	2	113676137	113676137	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:113676137G>A	uc002tij.3	+	5	451	c.409_splice	c.e5-1	p.K137_splice	IL37_uc002tim.3_Splice_Site_p.K76_splice|IL37_uc002tik.3_Splice_Site_p.K116_splice|IL37_uc002til.3_Splice_Site_p.K97_splice|IL37_uc002tin.3_Splice_Site_p.K111_splice	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	137					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TTACCTCACAGAAGGAGAAAC	0.512000														48			16		0	0	0.003163	0	0
LIN54	132660	broad.mit.edu	37	4	83905883	83905883	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:83905883G>A	uc003hnx.3	-	1	493	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Missense_Mutation_p.P39S|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	39					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GTCTCCATGGGAATTGGGGAT	0.418000														58			17		0	0	0.004990	0	0
TMEM190	147744	broad.mit.edu	37	19	55889382	55889382	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:55889382C>T	uc002qkt.1	+	4	363	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	Homo sapiens transmembrane protein 190 (TMEM190), mRNA.	115						integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGCCCGGTTTCCTGGCGGGTC	0.706000														35			17		0	0	0.004990	0	0
KCNMB3	27094	broad.mit.edu	37	3	178968596	178968596	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:178968596C>T	uc003fjm.3	-	1	707	c.195G>A	c.(193-195)atG>atA	p.M65I	KCNMB3_uc003fjl.3_Non-coding_Transcript|KCNMB3_uc011bqc.1_Missense_Mutation_p.M63I|KCNMB3_uc003fjn.3_Missense_Mutation_p.M61I|KCNMB3_uc003fjo.3_Missense_Mutation_p.M43I|KCNMB3_uc003fjp.1_Missense_Mutation_p.M63I	NM_014407	NP_055222	Q9NPA1	KCMB3_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M beta member 3 (KCNMB3), transcript variant 4, mRNA.	65					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			AGAAGCCCATCATGGCAAACC	0.488000														78			33		0	0	0.013726	0	0
PITPNM1	9600	broad.mit.edu	37	11	67260440	67260440	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:67260440C>T	uc001olx.3	-	21	3625	c.3436G>A	c.(3436-3438)Ggc>Agc	p.G1146S	PITPNM1_uc001olw.3_Missense_Mutation_p.G428S|PITPNM1_uc001oly.3_Missense_Mutation_p.G1146S|PITPNM1_uc001olz.3_Missense_Mutation_p.G1145S	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	1146					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACGGCACGGCCCACGATGTAG	0.652000														95			41		0	0	0.008740	0	0
GDF2	2658	broad.mit.edu	37	10	48413875	48413875	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:48413875G>A	uc001jfa.1	-	1	1153	c.993C>T	c.(991-993)tcC>tcT	p.S331S		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	331					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.T330I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTACCCGCAGGGAGGTCTTTT	0.612000														64			23		0	0	0.007291	0	0
MOGS	7841	broad.mit.edu	37	2	74690339	74690339	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:74690339C>T	uc010ffj.3	-	2	917	c.754G>A	c.(754-756)Gat>Aat	p.D252N	MOGS_uc010ffh.3_5'UTR|MOGS_uc010yrt.2_Missense_Mutation_p.D133N|MOGS_uc010ffi.3_Missense_Mutation_p.D146N|MOGS_uc010yru.1_3'UTR	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	252					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	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						GGGGCTGTATCCCCTGGACTG	0.537000														112			37		0	0	0.006230	0	0
KIF15	56992	broad.mit.edu	37	3	44844342	44844342	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:44844342G>A	uc003cnx.4	+	13	1695	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	KIF15_uc010hiq.3_Missense_Mutation_p.E419K|KIF15_uc003cny.1_Missense_Mutation_p.E151K	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	516					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GTATGCTATGGAAAATCATTC	0.383000														45			14		0	0	0.020292	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868168	20868168	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:20868168A>T	uc010sii.2	+	6	980	c.625A>T	c.(625-627)Att>Ttt	p.I209F	SLCO1C1_uc010sij.2_Intron|SLCO1C1_uc009zip.3_Missense_Mutation_p.I43F|SLCO1C1_uc001rei.3_Missense_Mutation_p.I209F|SLCO1C1_uc010sik.2_Missense_Mutation_p.I91F	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	209					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GCCTTTGGGCATTGCCTACCT	0.428000														57			31		0	0	0.013726	0	0
CDH20	28316	broad.mit.edu	37	18	59221766	59221766	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:59221766T>A	uc010dps.1	+	10	2396	c.2244T>A	c.(2242-2244)taT>taA	p.Y748*	CDH20_uc002lif.2_Nonsense_Mutation_p.Y742*	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	748					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCCAGACGTATATGTTCGAGG	0.647000														21			9		0	0	0.004482	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305976	39305976	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:39305976C>T	uc002hwb.3	-	0	79	c.44G>A	c.(43-45)tGt>tAt	p.C15Y		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	15	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTCCAGGCCACAGCTCTGCTC	0.602000														42			16		0	0	0.007413	0	0
CECR6	27439	broad.mit.edu	37	22	17600315	17600315	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:17600315T>C	uc002zmb.2	-	0	1899	c.1703A>G	c.(1702-1704)tAt>tGt	p.Y568C	CECR6_uc002zma.2_Missense_Mutation_p.Y213C|BC021738_uc002zmc.3_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.	568										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GGTGTTGACATAGCCATGAGC	0.627000														7			3		0	0	0.004672	0	0
SUGP1	57794	broad.mit.edu	37	19	19416756	19416756	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:19416756G>A	uc002nmh.3	-	3	456	c.440C>T	c.(439-441)tCc>tTc	p.S147F	SUGP1_uc002nmg.3_5'Flank|SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_5'UTR|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	147					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CTTGGCGTGGGAGTAGCTCTT	0.672000														17			31		0	0	0.012213	0	0
NOL8	55035	broad.mit.edu	37	9	95077282	95077282	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:95077282G>A	uc022bjx.1	-	6	1962	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.A474V	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	542					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CACAATCTCCGCAGGACGAAT	0.507000														38			6		0	0	0.003080	0	0
C6	729	broad.mit.edu	37	5	41181522	41181522	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:41181522C>T	uc003jmk.2	-	6	1076	c.866G>A	c.(865-867)aGa>aAa	p.R289K	C6_uc003jml.1_Missense_Mutation_p.R289K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	289	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATTTTCACTTCTCTTTGAGGA	0.363000														45			7		0	0	0.003080	0	0
NLRP5	126206	broad.mit.edu	37	19	56515291	56515291	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:56515291C>T	uc002qmj.3	+	1	272	c.272C>T	c.(271-273)tCg>tTg	p.S91L	NLRP5_uc002qmi.3_Missense_Mutation_p.S91L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	91	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTTCAGAATCGACCACATGC	0.453000														37			21		0	0	0.008871	0	0
CD163	9332	broad.mit.edu	37	12	7633849	7633849	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:7633849G>A	uc001qsz.3	-	14	3379	c.3251C>T	c.(3250-3252)tCc>tTc	p.S1084F	CD163_uc001qta.3_Missense_Mutation_p.S1084F|CD163_uc009zfw.2_Missense_Mutation_p.S1117F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1084					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCTCTTGAGGAAACTGAAAA	0.428000														44			20		0	0	0.014323	0	0
C4orf37	285555	broad.mit.edu	37	4	98865133	98865133	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:98865133C>T	uc003htt.2	-	7	1049	c.959G>A	c.(958-960)gGa>gAa	p.G320E		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	320										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		ATCAGAAATTCCCACACCCTG	0.328000														31			14		0	0	0.006122	0	0
SLC11A2	4891	broad.mit.edu	37	12	51385436	51385436	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:51385436G>A	uc001rxk.2	-	13	1504	c.1454C>T	c.(1453-1455)cCc>cTc	p.P485L	SLC11A2_uc001rxd.4_Missense_Mutation_p.P305L|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Missense_Mutation_p.P456L|SLC11A2_uc001rxc.4_Missense_Mutation_p.P456L|SLC11A2_uc001rxg.2_Missense_Mutation_p.P69L|SLC11A2_uc010smx.2_Missense_Mutation_p.P452L|SLC11A2_uc001rxh.2_Missense_Mutation_p.P456L|SLC11A2_uc010smy.2_Missense_Mutation_p.P419L|SLC11A2_uc001rxj.2_Missense_Mutation_p.P456L|SLC11A2_uc001rxi.3_Missense_Mutation_p.P456L	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	456					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						TGTGAGGATGGGTATGAGAGC	0.458000														21			7		0	0	0.003080	0	0
ABCA8	10351	broad.mit.edu	37	17	66873793	66873793	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:66873793C>T	uc002jhq.3	-	32	4406	c.4066G>A	c.(4066-4068)Gat>Aat	p.D1356N	ABCA8_uc002jhp.3_Missense_Mutation_p.D1316N|ABCA8_uc010wqq.2_Missense_Mutation_p.D1351N	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1316	ABC transporter 2.					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)					TCCAGGGCATCCCCTCCACCG	0.567000														80			61		0	0	0.014410	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18793380	18793380	+	Silent	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:18793380T>G	uc001rdt.3	+	30	4193	c.4077T>G	c.(4075-4077)tcT>tcG	p.S1359S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.S1400S|PIK3C2G_uc010sic.2_Silent_p.S1178S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1359	C2.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGATGGCTCTGCGCCCAGTG	0.383000														8			4		0	0	0.001168	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003386	75003386	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:75003386C>T	uc004ecj.2	-	0	1694	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	501	MAGE 2.									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						TCCACAGCCTCCCTATATTGT	0.488000														20			20		0	0	0.008871	0	0
FAM135B	51059	broad.mit.edu	37	8	139165019	139165019	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:139165019C>T	uc003yuy.3	-	12	1870	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	FAM135B_uc003yux.3_Missense_Mutation_p.E468K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E129K|FAM135B_uc003yvb.3_Missense_Mutation_p.E129K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	567										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)			ACCAGGGGTTCAGCTCTGGAG	0.498000										HNSCC(54;0.14)				90			24		0	0	0.016522	0	0
TDRD9	122402	broad.mit.edu	37	14	104460697	104460697	+	Silent	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:104460697A>G	uc001yom.4	+	9	1239	c.1209A>G	c.(1207-1209)gaA>gaG	p.E403E	TDRD9_uc001yon.4_Silent_p.E141E	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	403	Helicase C-terminal.				DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATATGCATGAACTTCTCACAA	0.333000														156			43		0	0	0.014410	0	0
EHBP1	23301	broad.mit.edu	37	2	63085637	63085637	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:63085637C>T	uc002sby.3	+	7	1213	c.731C>T	c.(730-732)tCc>tTc	p.S244F	EHBP1_uc010fcp.3_Intron|EHBP1_uc002sbx.2_Intron|EHBP1_uc002sbz.3_Intron|EHBP1_uc002scb.3_Intron	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	244						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCAGCCAGTTCCTCTGAAGGT	0.408000														40			11		0	0	0.010729	0	0
CD2	914	broad.mit.edu	37	1	117303229	117303229	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:117303229C>T	uc001egu.4	+	2	617	c.588C>T	c.(586-588)tcC>tcT	p.S196S	CD2_uc010owz.1_Silent_p.S196S|CD2_uc010oxa.1_Intron	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	196	Ig-like C2-type.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GCAAGGAATCCAGTGTCGAGC	0.542000														22			8		0	0	0.003080	0	0
C1orf173	127254	broad.mit.edu	37	1	75037636	75037636	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:75037636C>T	uc001dgg.3	-	13	3977	c.3758G>A	c.(3757-3759)gGa>gAa	p.G1253E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1253	Glu-rich.							p.A1252S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCCTCCAGTCCTGCGCAGGA	0.592000														67			24		0	0	0.016522	0	0
FER1L6	654463	broad.mit.edu	37	8	124978497	124978497	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:124978497G>A	uc003yqw.3	+	4	557	c.351G>A	c.(349-351)gtG>gtA	p.V117V		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	117	C2 1.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAAGCACAGTGAAGGAAGGAA	0.478000														35			23		0	0	0.021523	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7671210	7671210	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:7671210G>A	uc002mgu.4	+	2	557	c.456G>A	c.(454-456)tgG>tgA	p.W152*	CAMSAP3_uc002mgv.4_Nonsense_Mutation_p.W152*	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	152					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCTTCGAGTGGACAAAGACCC	0.627000														61			56		0	0	0.014410	0	0
PASD1	139135	broad.mit.edu	37	X	150844505	150844505	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:150844505G>A	uc004fev.4	+	15	2544	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	738						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGGACCTCCTGATCCACAGGC	0.517000														43			55		0	0	0.014410	0	0
KCNB2	9312	broad.mit.edu	37	8	73848248	73848248	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:73848248G>A	uc003xzb.3	+	2	1246	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	220					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGAGCTGCAGGAAACGGACGA	0.473000														172			13		0	0	0.013537	0	0
COL5A1	1289	broad.mit.edu	37	9	137593132	137593132	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:137593132G>A	uc004cfe.3	+	3	989	c.607G>A	c.(607-609)Ggc>Agc	p.G203S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	203	Laminin G-like.|TSP N-terminal.				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)		CGACATCAATGGCATCATCGT	0.552000														29			11		0	0	0.013537	0	0
TAOK1	57551	broad.mit.edu	37	17	27869900	27869900	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:27869900C>T	uc002hdz.2	+	19	3060	c.2866C>T	c.(2866-2868)Cga>Tga	p.R956*	TAOK1_uc010wbe.2_Nonsense_Mutation_p.R808*	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	956					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGGGGTACCTCGAGGTAGCAG	0.632000														23			19		0	0	0.007413	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188577	37188577	+	RNA	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:37188577T>G	uc002hrd.1	+	0		c.2419T>G								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		ACATATGTGATCTCTGTACCT	0.517000														229			5		0	0	0.001984	0	0
SLC2A14	144195	broad.mit.edu	37	12	7970503	7970504	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:7970503_7970504GG>AA	uc010sgh.2	-	8	1333_1334	c.1312_1313CC>TT	c.(1312-1314)cca>TTa	p.P438L	SLC2A14_uc001qtk.3_Missense_Mutation_p.P423L|SLC2A14_uc001qtl.3_Missense_Mutation_p.P400L|SLC2A14_uc001qtm.3_Missense_Mutation_p.P400L|SLC2A14_uc010sgg.2_Missense_Mutation_p.P314L|SLC2A14_uc001qtn.3_Missense_Mutation_p.P423L|SLC2A14_uc001qto.3_Missense_Mutation_p.P58L	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	423					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CATCGCAGCTGGGCGGGGGCCC	0.550000														47			15		0	0	0.004672	0	0
MYO1D	4642	broad.mit.edu	37	17	31098192	31098192	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:31098192T>G	uc002hho.1	-	5	677	c.665A>C	c.(664-666)cAg>cCg	p.Q222P	MYO1D_uc002hhp.1_Missense_Mutation_p.Q222P|MYO1D_uc010wcb.2_Missense_Mutation_p.Q222P	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	222	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AAGGGATTTCTGGAGATGTAG	0.358000														73			17		0	0	0.014323	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421141	39421141	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:39421141C>T	uc003awt.4	+	2	684	c.277C>T	c.(277-279)Cct>Tct	p.P93S	APOBEC3D_uc021wpq.1_Missense_Mutation_p.P93S|APOBEC3D_uc010gxu.3_Intron|APOBEC3D_uc003awu.4_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	93					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CAACCGACTGCCTGCTAACAG	0.547000														94			13		0	0	0.004007	0	0
CEP44	80817	broad.mit.edu	37	4	175223258	175223258	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:175223258A>T	uc010iro.2	+	3	463	c.158A>T	c.(157-159)tAt>tTt	p.Y53F	CEP44_uc003its.2_Non-coding_Transcript|CEP44_uc003itr.3_Missense_Mutation_p.Y53F	NM_001145314	NP_001138786	Q9C0F1	CEP44_HUMAN	Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA.	53						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TACTCACCTTATGTAACAGAA	0.328000														30			10		0	0	0.006214	0	0
ATP13A4	84239	broad.mit.edu	37	3	193201733	193201733	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:193201733C>T	uc003ftd.3	-	7	908	c.800G>A	c.(799-801)gGg>gAg	p.G267E	ATP13A4_uc003fte.1_Missense_Mutation_p.G267E|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	267					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ACCTTTTCTCCCACATACAGA	0.338000														84			28		0	0	0.008361	0	0
TAOK2	9344	broad.mit.edu	37	16	29999125	29999125	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:29999125C>T	uc010bzm.2	+	14	3588	c.3553C>T	c.(3553-3555)Cac>Tac	p.H1185Y	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.H1065Y|TAOK2_uc002dva.2_Missense_Mutation_p.H1178Y|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.H1005Y	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	1178					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTGGGCCATCCACACACTGGC	0.687000														25			13		0	0	0.016723	0	0
MYH7B	57644	broad.mit.edu	37	20	33588110	33588110	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:33588110G>A	uc002xbi.2	+	38	5239	c.4922G>A	c.(4921-4923)cGa>cAa	p.R1641Q		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1599						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AACCACCAGCGAGCTGTGGAG	0.602000														190			73		0	0	0.014410	0	0
PAPL	390928	broad.mit.edu	37	19	39591408	39591408	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:39591408C>T	uc002oki.3	+	6	996	c.722C>T	c.(721-723)tCc>tTc	p.S241F	PAPL_uc010egl.3_Missense_Mutation_p.P200S	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	241						extracellular region	acid phosphatase activity|metal ion binding										CACATCATCTCCTTCTCCACC	0.607000														41			23		0	0	0.004656	0	0
C1orf210	149466	broad.mit.edu	37	1	43748742	43748742	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:43748742G>A	uc001cit.4	-	2	290	c.56C>T	c.(55-57)gCt>gTt	p.A19V	C1orf210_uc021omn.1_Missense_Mutation_p.A19V	NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.	19						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGGCCACAGCAGACGCTGT	0.637000														24			15		0	0	0.004007	0	0
NOTCH1	4851	broad.mit.edu	37	9	139410075	139410075	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:139410075G>A	uc004chz.3	-	10	1763	c.1763C>T	c.(1762-1764)aCc>aTc	p.T588I	NOTCH1_uc004cia.1_5'Flank	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	588	EGF-like 15; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGAGGCAGGTGAAGGTGGC	0.692000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				12			5		0	0	0.014758	0	0
TM9SF4	9777	broad.mit.edu	37	20	30747794	30747794	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:30747794G>A	uc002wxj.2	+	16	1805	c.1570_splice	c.e16-1	p.A524_splice	TM9SF4_uc010zts.1_Splice_Site_p.A431_splice|TM9SF4_uc002wxk.2_Splice_Site_p.A507_splice	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	524						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGTGTCCACAGGCTATCTGGG	0.517000														42			14		0	0	0.016723	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077861	19077861	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:19077861G>A	uc001mph.3	-	1	177	c.89C>T	c.(88-90)aCc>aTc	p.T30I	MRGPRX2_uc021qer.1_Missense_Mutation_p.T30I	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	30					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CGGGATCAGGGTCTCCTTGCC	0.562000														166			85		0	0	0.014410	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478734	85478734	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:85478734G>A	uc002blg.3	+	14	1768	c.1566G>A	c.(1564-1566)agG>agA	p.R522R	SLC28A1_uc010bnb.3_Silent_p.R522R|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Silent_p.R522R|SLC28A1_uc010upg.1_Silent_p.R522R	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	522					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCGGCGACAGGAAGCAGTGGA	0.627000														87			41		0	0	0.008740	0	0
ATP1A3	478	broad.mit.edu	37	19	42492128	42492128	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:42492128C>T	uc002osh.3	-	3	471	c.317G>A	c.(316-318)gGt>gAt	p.G106D	ATP1A3_uc010xwf.2_Missense_Mutation_p.G117D|ATP1A3_uc010xwg.2_Missense_Mutation_p.G76D|ATP1A3_uc002osg.3_Missense_Mutation_p.G106D|ATP1A3_uc010xwh.2_Missense_Mutation_p.G119D			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	106					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.Y105H(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGCCTGGATACCGTAGGCCAG	0.622000														108			21		0	0	0.018920	0	0
OR5B3	441608	broad.mit.edu	37	11	58170217	58170217	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:58170217G>A	uc010rkf.2	-	0	666	c.666C>T	c.(664-666)acC>acT	p.T222T		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTTTAGGATGGTGATAAAAA	0.383000														7			5		0	0	0.014758	0	0
MYH15	22989	broad.mit.edu	37	3	108219053	108219053	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:108219053G>A	uc003dxa.1	-	4	525	c.468C>T	c.(466-468)gtC>gtT	p.V156V		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	156	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGCGGCCATGACTTCTTTCT	0.468000														28			11		0	0	0.020292	0	0
PRSS3	5646	broad.mit.edu	37	9	33798555	33798555	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:33798555C>T	uc003ztj.4	+	3	748	c.697C>T	c.(697-699)Cct>Tct	p.P233S	PRSS3_uc003zti.4_Missense_Mutation_p.P190S|PRSS3_uc022bfu.1_Missense_Mutation_p.P169S|PRSS3_uc003ztl.4_Missense_Mutation_p.P176S	NM_007343	NP_031369	P35030	TRY3_HUMAN	Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.	233	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AGCCTCCTACCCTGGAAAGAT	0.542000														142			36		0	0	0.015359	0	0
SCN3A	6328	broad.mit.edu	37	2	165984368	165984368	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:165984368C>T	uc002ucx.3	-	17	3658	c.3166G>A	c.(3166-3168)Gaa>Aaa	p.E1056K	SCN3A_uc002ucy.3_Missense_Mutation_p.E1007K|SCN3A_uc002ucz.3_Missense_Mutation_p.E1007K|SCN3A_uc002uda.1_Missense_Mutation_p.E876K|SCN3A_uc002udb.1_Missense_Mutation_p.E876K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1056						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTGCTTATTTCAATTCCAGTA	0.373000														31			13		0	0	0.020292	0	0
ARPP21	10777	broad.mit.edu	37	3	35834018	35834018	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:35834018A>T	uc011axy.2	+	17	2392	c.2180A>T	c.(2179-2181)tAt>tTt	p.Y727F	ARPP21_uc003cga.3_Missense_Mutation_p.Y707F|ARPP21_uc003cgb.3_Missense_Mutation_p.Y726F|ARPP21_uc003cgf.3_Missense_Mutation_p.Y562F|ARPP21_uc003cgg.3_Missense_Mutation_p.Y249F	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	726	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATGTCTTCTTATCAGGTGCTC	0.478000														24			8		0	0	0.006214	0	0
ZPBP2	124626	broad.mit.edu	37	17	38027043	38027043	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:38027043G>A	uc002hte.3	+	2	368	c.215G>A	c.(214-216)tGg>tAg	p.W72*	ZPBP2_uc002htf.3_Nonsense_Mutation_p.W50*	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	72					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACCTACTTATGGATTGGGCCT	0.294000														55			34		0	0	0.007835	0	0
CD163	9332	broad.mit.edu	37	12	7640647	7640647	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:7640647G>A	uc001qsz.3	-	6	1585	c.1457C>T	c.(1456-1458)cCc>cTc	p.P486L	CD163_uc001qta.3_Missense_Mutation_p.P486L|CD163_uc009zfw.2_Missense_Mutation_p.P486L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	486	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCAGAACAGGGAATGTCCCC	0.468000														11			8		0	0	0.006214	0	0
A2ML1	144568	broad.mit.edu	37	12	8995919	8995919	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:8995919G>A	uc001quz.4	+	11	1536	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	A2ML1_uc001qva.1_Missense_Mutation_p.D60N|A2ML1_uc010sgm.2_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	324						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CGACCCGGCCGATGCAAGCCC	0.562000														33			21		0	0	0.016522	0	0
GPR133	283383	broad.mit.edu	37	12	131622767	131622767	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:131622767C>T	uc010tbm.2	+	24	3177	c.2618C>T	c.(2617-2619)tCg>tTg	p.S873L	GPR133_uc001uit.4_Missense_Mutation_p.S841L|GPR133_uc009zyo.3_Missense_Mutation_p.S123L|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	841					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCTTCCACTCGGACCTCGTG	0.622000														25			16		0	0	0.006122	0	0
PAPPA2	60676	broad.mit.edu	37	1	176809372	176809372	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:176809372G>A	uc001gkz.3	+	21	6430	c.5266G>A	c.(5266-5268)Gga>Aga	p.G1756R	PAPPA2_uc009www.3_Non-coding_Transcript|PAPPA2_uc001gla.2_5'Flank	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1756					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTATGACGGGGGAGACTGCTG	0.542000														74			9		0	0	0.013537	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152226710	152226710	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:152226710G>A	uc002txk.3	+	3	646	c.571G>A	c.(571-573)Gat>Aat	p.D191N	FW340097_uc021vqy.1_Intron|MIR4773-2_uc021vra.1_5'Flank	NM_007115	NP_009046	P98066	TSG6_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 6 (TNFAIP6), mRNA.	191	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGCTTGGCTGATTATGTTGA	0.408000														84			20		0	0	0.018920	0	0
GPR112	139378	broad.mit.edu	37	X	135427812	135427812	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:135427812C>T	uc004ezu.1	+	5	2238	c.1947C>T	c.(1945-1947)ttC>ttT	p.F649F	GPR112_uc010nsb.1_Silent_p.F444F|GPR112_uc010nsc.1_Silent_p.F416F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	649					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)					CCCATCTGTTCTCCAGCAATG	0.473000														5			4		0	0	0.014758	0	0
EMR1	2015	broad.mit.edu	37	19	6903930	6903930	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:6903930G>A	uc002mfw.3	+	6	809	c.771G>A	c.(769-771)ttG>ttA	p.L257L	EMR1_uc010dvc.3_Silent_p.L257L|EMR1_uc010dvb.3_Silent_p.L205L|EMR1_uc010xji.2_Silent_p.L116L|EMR1_uc010xjj.2_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	257	EGF-like 5; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)					ATGGACAGTTGAATTTCACAG	0.453000														51			15		0	0	0.003163	0	0
USP20	10868	broad.mit.edu	37	9	132641892	132641892	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:132641892C>T	uc004bys.2	+	23	2764	c.2553C>T	c.(2551-2553)gtC>gtT	p.V851V	USP20_uc004byr.2_Silent_p.V851V|USP20_uc004byt.1_Silent_p.V851V	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	851	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TTGCACAGGTCAAAGGAAGCG	0.657000														55			24		0	0	0.005443	0	0
SLC7A3	84889	broad.mit.edu	37	X	70146735	70146735	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:70146735G>A	uc004dyn.3	-	8	1617	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	SLC7A3_uc004dyo.3_Silent_p.S481S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	481					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)	CAAGCAATGAGGAACAAACAT	0.473000														8			12		0	0	0.013537	0	0
C17orf101	79701	broad.mit.edu	37	17	80361871	80361871	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:80361871A>G	uc002ket.2	-	6	793	c.641T>C	c.(640-642)aTa>aCa	p.I214T	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Missense_Mutation_p.I214T	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	214	Fe2OG dioxygenase.					integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						CGTGCTGTTTATGCGGGAGAA	0.637000														14			19		0	0	0.016522	0	0
OVCH1	341350	broad.mit.edu	37	12	29617568	29617568	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:29617568G>A	uc001rix.1	-	17	1997	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	666	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGTATTAGGGCAATGTCAGA	0.463000														31			10		0	0	0.008291	0	0
XIST	7503	broad.mit.edu	37	X	73068291	73068291	+	RNA	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:73068291G>A	uc004ebm.1	-	0		c.4298C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TCCCCTGCTGGAATACAAAGG	0.433000														9			8		0	0	0.003080	0	0
CD244	51744	broad.mit.edu	37	1	160808808	160808808	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:160808808G>A	uc009wtq.3	-	3	927	c.702C>T	c.(700-702)atC>atT	p.I234I	CD244_uc001fxa.3_Silent_p.I229I|CD244_uc009wtr.3_Silent_p.I137I|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	234					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.S233R(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTAGAATCACGATGATCACCA	0.517000														57			13		0	0	0.020292	0	0
ZFHX3	463	broad.mit.edu	37	16	72993158	72993158	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:72993158G>A	uc002fck.3	-	1	1560	c.887C>T	c.(886-888)tCg>tTg	p.S296L	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	296					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTCACAAACGAACGGACGTA	0.493000														60			19		0	0	0.007413	0	0
C20orf194	25943	broad.mit.edu	37	20	3240173	3240173	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:3240173G>A	uc002wii.2	-	32	3059	c.3008C>T	c.(3007-3009)cCc>cTc	p.P1003L	C20orf194_uc002wij.3_Missense_Mutation_p.P742L|C20orf194_uc002wik.2_Missense_Mutation_p.P677L	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	1003										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCCGGAGAAGGGACTTGGCTT	0.537000														74			20		0	0	0.007413	0	0
OR10G8	219869	broad.mit.edu	37	11	123900864	123900864	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:123900864G>A	uc001pzp.1	+	0	535	c.535G>A	c.(535-537)Gat>Aat	p.D179N		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTATTTGTGTGATGCACCGCC	0.527000														62			30		0	0	0.006230	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117657	117657	+	RNA	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrGL000205.1:117657G>T	uc002kgk.4	+	0		c.1035G>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGGAAGGCACGCGAGTTCAGA	0.622000														17			7		0.00198382	0.00202883	0.001984	1	0
IL8	3576	broad.mit.edu	37	4	74607292	74607292	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:74607292G>A	uc003hhe.3	+	1	251	c.98G>A	c.(97-99)aGa>aAa	p.R33K		NM_000584	NP_000575	P10145	IL8_HUMAN	Homo sapiens interleukin 8 (IL8), mRNA.	33					G-protein coupled receptor protein signaling pathway|angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication	extracellular space|intracellular	chemokine activity|interleukin-8 receptor binding	p.L32H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)	Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744)	AAAGAACTTAGATGTCAGTGC	0.428000														16			4		0	0	0.009096	0	0
KIF20A	10112	broad.mit.edu	37	5	137517384	137517384	+	Silent	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:137517384T>C	uc003lcj.3	+	3	838	c.342T>C	c.(340-342)atT>atC	p.I114I	KIF20A_uc011cyo.2_Silent_p.I96I	NM_005733	NP_005724	O95235	KI20A_HUMAN	Homo sapiens kinesin family member 20A (KIF20A), mRNA.	114	Kinesin-motor.				M phase of mitotic cell cycle|cytokinesis|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACGGGGAATTGGCCAAGCCA	0.478000														67			22		0	0	0.014323	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834496	101834496	+	Missense_Mutation	SNP	C	T	T	rs112814311		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:101834496C>T	uc003knn.3	-	0	225	c.53G>A	c.(52-54)gGa>gAa	p.G18E	SLCO6A1_uc003kno.3_Missense_Mutation_p.G18E|SLCO6A1_uc003knp.3_Missense_Mutation_p.G18E|SLCO6A1_uc003knq.3_Missense_Mutation_p.G18E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	18						integral to membrane|plasma membrane	transporter activity	p.G18*(1)|p.G18R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGGCTCTACTCCCCTTGAGAC	0.672000														145			137		0	0	0.014410	0	0
C1orf173	127254	broad.mit.edu	37	1	75078373	75078373	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:75078373G>A	uc001dgg.3	-	8	1340	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S168F	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	374										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCAAGCCTGGAACCTTTCCG	0.463000														29			12		0	0	0.016723	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324924	103324924	+	Silent	SNP	C	T	T	rs112482803		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:103324924C>T	uc002tca.3	+	11	2557	c.2415C>T	c.(2413-2415)gcC>gcT	p.A805A		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	805						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCCGGAAAGCCCGATTTGGGA	0.562000														68			39		0	0	0.007835	0	0
CIC	23152	broad.mit.edu	37	19	42794405	42794405	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:42794405T>A	uc002otf.1	+	9	1525	c.1485T>A	c.(1483-1485)ttT>ttA	p.F495L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGAAGGTGTTTTCACCTGTGA	0.617000			"""Mis, F, S"""		oligodendroglioma									79			35		0	0	0.019004	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801540	185801540	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:185801540C>T	uc002uph.3	+	3	2011	c.1417C>T	c.(1417-1419)Cta>Tta	p.L473L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	473						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						AAATAATAATCTAGATAAAAA	0.348000														27			6		0	0	0.001168	0	0
RSPH9	221421	broad.mit.edu	37	6	43638552	43638553	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:43638552_43638553GG>CA	uc003ovx.2	+	5	818_819	c.749_750GG>CA	c.(748-750)ggg>gCA	p.G250A	RSPH9_uc003ovw.2_Missense_Mutation_p.G233H	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GATGGAGAGGGGCAATGCCCTG	0.634000									Kartagener syndrome					45			26		0	0	0.004672	0	0
H6PD	9563	broad.mit.edu	37	1	9324817	9324817	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:9324817C>T	uc001apt.3	+	4	2538	c.2265C>T	c.(2263-2265)acC>acT	p.T755T		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	755	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GTGAGATCACCACGCTGGTGA	0.642000														30			8		0	0	0.010729	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166494	140166494	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:140166494G>A	uc003lhb.2	+	0	619	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	PCDHAC2_uc003lha.2_Missense_Mutation_p.E207K|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E207K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	222	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAACACCAGAACTTCACTT	0.448000														46			47		0	0	0.014410	0	0
CCDC83	220047	broad.mit.edu	37	11	85610023	85610023	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:85610023C>T	uc001pbg.1	+	6	1149	c.637C>T	c.(637-639)Cta>Tta	p.L213L	CCDC83_uc001pbh.1_Silent_p.L213L|CCDC83_uc001pbj.1_Silent_p.L114L|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	213										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGGCAGTTATCTAGAGATCTG	0.343000														32			13		0	0	0.004007	0	0
FAT4	79633	broad.mit.edu	37	4	126238981	126238981	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:126238981C>T	uc003ifj.4	+	0	1415	c.1415C>T	c.(1414-1416)cCt>cTt	p.P472L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	472	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATGACCATCCTCCTGTCTTT	0.557000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			10		0	0	0.008291	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117666	117666	+	RNA	SNP	G	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrGL000205.1:117666G>C	uc002kgk.4	+	0		c.1044G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CGCGAGTTCAGAGCGTGGAGC	0.612000														25			3		0	0	0.004672	0	0
SIAH3	283514	broad.mit.edu	37	13	46357632	46357632	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:46357632C>T	uc001vap.3	-	1	778	c.696G>A	c.(694-696)ggG>ggA	p.G232G		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	232					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CGAGGCAGTCCCCGTCCGTAA	0.612000														62			15		0	0	0.007413	0	0
KLHL13	90293	broad.mit.edu	37	X	117043518	117043518	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:117043518G>A	uc011mtp.2	-	5	1254	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	KLHL13_uc004eqk.3_Missense_Mutation_p.S320L|KLHL13_uc004eql.3_Missense_Mutation_p.S371L|KLHL13_uc011mtn.2_Missense_Mutation_p.S211L|KLHL13_uc011mto.2_Missense_Mutation_p.S365L|KLHL13_uc011mtq.2_Missense_Mutation_p.S355L|KLHL13_uc004eqm.3_Missense_Mutation_p.S329L|KLHL13_uc022cde.1_Missense_Mutation_p.S355L	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	371					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.S371L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGGGGCTAACGATTTCCACTC	0.488000														68			13		0	0	0.013537	0	0
DOCK3	1795	broad.mit.edu	37	3	51399296	51399296	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:51399296G>A	uc011bds.2	+	47	5036	c.5013G>A	c.(5011-5013)atG>atA	p.M1671I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1671						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACAGCCCCATGAACTTGATGG	0.562000														10			7		0	0	0.004482	0	0
CR1	1378	broad.mit.edu	37	1	207751155	207751155	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:207751155C>T	uc001hfy.3	+	20	3333	c.3193C>T	c.(3193-3195)Cct>Tct	p.P1065S	CR1_uc009xcl.1_Missense_Mutation_p.P615S|CR1_uc001hfx.3_Missense_Mutation_p.P1515S|CR1_uc021pij.1_Missense_Mutation_p.P1065S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1065	Sushi 17.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAGGAATTCCTTGTGGGCT	0.483000														11			13		0	0	0.013537	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428937	142428937	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:142428937C>T	uc011ksk.1	+	1	314	c.297C>T	c.(295-297)tcC>tcT	p.S99S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Silent_p.S54S					SubName: Full=V_segment translation product; Flags: Fragment;																		TTCTGGAGTCCGCCAGCACCA	0.478000														6			9		0	0	0.013537	0	0
TRPC5	7224	broad.mit.edu	37	X	111090650	111090650	+	Silent	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:111090650A>T	uc004epl.1	-	5	2311	c.1392T>A	c.(1390-1392)cgT>cgA	p.R464R	TRPC5_uc004epm.1_Silent_p.R464R	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	464					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTCCCTTGGACGAGAACCAT	0.428000														5			10		0	0	0.006214	0	0
COL4A4	1286	broad.mit.edu	37	2	227892641	227892641	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:227892641C>T	uc021vxr.1	-	40	4159	c.4058G>A	c.(4057-4059)aGa>aAa	p.R1353K	COL4A4_uc021vxs.1_Missense_Mutation_p.R1353K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1353	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G1352E(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGCCCTTTTCTCCCTGGAGG	0.458000														30			8		0	0	0.003080	0	0
TXNRD2	10587	broad.mit.edu	37	22	19865681	19865681	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:19865681C>T	uc021wlj.1	-	15	1410	c.1377G>A	c.(1375-1377)ctG>ctA	p.L459L	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Silent_p.L458L|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_Silent_p.L109L	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	459					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGCCCAGCACCAGCTGTGGGG	0.617000														23			8		0	0	0.004482	0	0
ZNF532	55205	broad.mit.edu	37	18	56586876	56586876	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:56586876C>T	uc010xeg.2	+	2	1554	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	ZNF532_uc002lhp.3_Missense_Mutation_p.L451F|ZNF532_uc002lho.3_Missense_Mutation_p.L453F|ZNF532_uc002lhr.3_Missense_Mutation_p.L451F|ZNF532_uc002lhs.3_Missense_Mutation_p.L451F	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TACTGCTTTCCTCCCAGTGTC	0.557000														45			9		0	0	0.008291	0	0
SEC63	11231	broad.mit.edu	37	6	108218933	108218933	+	Silent	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:108218933A>G	uc003psc.4	-	13	1629	c.1360T>C	c.(1360-1362)Tta>Cta	p.L454L	SEC63_uc003psb.4_Silent_p.L314L	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	454	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCATCATCTAACACTGTTAAG	0.333000														58			42		0	0	0.009718	0	0
LAMB4	22798	broad.mit.edu	37	7	107674792	107674792	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:107674792C>T	uc010ljo.1	-	31	4764	c.4680_splice	c.e31-1	p.E1560_splice	LAMB4_uc003vey.2_Splice_Site_p.E1560_splice|LAMB4_uc010ljp.1_Splice_Site_p.E529_splice	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1560	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCTGCTTTCCTAAGGTAAGA	0.328000														35			16		0	0	0.006122	0	0
CDH9	1007	broad.mit.edu	37	5	26890578	26890578	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:26890578G>A	uc003jgs.1	-	7	1518	c.1349C>T	c.(1348-1350)tCa>tTa	p.S450L	CDH9_uc011cnv.1_Missense_Mutation_p.S43L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	450	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCAAGGAGATGATTCCCGGTC	0.403000														62			12		0	0	0.010729	0	0
ODZ3	55714	broad.mit.edu	37	4	183549824	183549824	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:183549824G>A	uc003ivd.1	+	3	845	c.770G>A	c.(769-771)gGa>gAa	p.G257E	ODZ3_uc021xux.1_Missense_Mutation_p.G164E	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	257	Teneurin N-terminal.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTCAAAACAGGAACAGGTACA	0.428000														8			5		0	0	0.014758	0	0
CLVS2	134829	broad.mit.edu	37	6	123377146	123377146	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:123377146G>A	uc003pzi.1	+	4	1740	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	291					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AGTAGAGAAGGAACTCTCCCC	0.522000														7			3		0	0	0.009096	0	0
XIRP2	129446	broad.mit.edu	37	2	168099883	168099883	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:168099883A>T	uc002udx.3	+	8	2070	c.1981A>T	c.(1981-1983)Agg>Tgg	p.R661W	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R486W|XIRP2_uc010fpq.3_Missense_Mutation_p.R439W|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	486					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						GTTTGAAACAAGGCCATTGGA	0.438000														26			12		0	0	0.010729	0	0
SERPINA3	12	broad.mit.edu	37	14	95081240	95081241	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:95081240_95081241GG>AA	uc001ydp.3	+	1	621_622	c.462_463GG>AA	c.(460-465)acggag>acAAag	p.E155K	SERPINA3_uc001ydo.4_Missense_Mutation_p.E180K|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.E155K|SERPINA3_uc001yds.3_Missense_Mutation_p.E155K	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	155					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACAGGTTCACGGAGGATGCCAA	0.530000														30			10		0	0	0.004672	0	0
ANK3	288	broad.mit.edu	37	10	61831012	61831012	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:61831012C>T	uc001jky.3	-	36	9965	c.9627G>A	c.(9625-9627)gaG>gaA	p.E3209E	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3209	Poly-Glu.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTGTTCCTCCTCCTCTGACT	0.468000														34			16		0	0	0.003163	0	0
DGKI	9162	broad.mit.edu	37	7	137293795	137293795	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:137293795G>A	uc003vtt.3	-	9	1085	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C	DGKI_uc003vtu.3_Missense_Mutation_p.R62C	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	362					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACAAAAGGACGACCTTTGTTT	0.453000														11			3		0	0	0.009096	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667763	70667763	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:70667763G>A	uc003xyl.3	-	3	1861	c.1154C>T	c.(1153-1155)tCt>tTt	p.S385F	SLCO5A1_uc010lzb.3_Missense_Mutation_p.S385F|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.S385F|SLCO5A1_uc010lzc.2_Missense_Mutation_p.S385F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	385						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGCATCAACAGAAAATTTTTT	0.373000														37			19		0	0	0.007413	0	0
ADCY8	114	broad.mit.edu	37	8	131964190	131964190	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:131964190C>T	uc003ytd.4	-	2	1421	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	ADCY8_uc010mds.3_Missense_Mutation_p.D389N	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	389					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTGGTCATGTCGTTGATCATT	0.532000										HNSCC(32;0.087)				55			31		0	0	0.008361	0	0
DNPEP	23549	broad.mit.edu	37	2	220239598	220239598	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:220239598G>A	uc002vle.2	-	13	1532	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	DNPEP_uc002vli.2_Silent_p.L409L|DNPEP_uc010zlg.2_Silent_p.L470L	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	452					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TGAGGGTCTGGAGGACTCCTG	0.612000														33			9		0	0	0.004482	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31850259	31850259	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:31850259G>A	uc003akz.2	-	9	1581	c.1383C>T	c.(1381-1383)caC>caT	p.H461H	EIF4ENIF1_uc003akx.2_Silent_p.H140H|EIF4ENIF1_uc003aky.2_Silent_p.H140H|EIF4ENIF1_uc003ala.2_Silent_p.H461H|EIF4ENIF1_uc003alb.2_Silent_p.H298H	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	461						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCTCTTCTAGGTGTTCTGCCA	0.483000														61			18		0	0	0.008871	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35906721	35906721	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:35906721C>T	uc001byx.3	-	19	3147	c.2889G>A	c.(2887-2889)aaG>aaA	p.K963K	KIAA0319L_uc001byw.3_Silent_p.K405K|KIAA0319L_uc010ohv.1_Silent_p.K605K	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	963						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGCTTTTCCTCTTGGGTTTTC	0.552000														113			22		0	0	0.006320	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572802	38572802	+	Silent	SNP	C	T	T	rs141215232		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:38572802C>T	uc002ohk.3	+	2	1106	c.597C>T	c.(595-597)ttC>ttT	p.F199F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	199					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGCCCCTCTTCCGCGAGTACG	0.706000														34			13		0	0	0.020292	0	0
OSBP	5007	broad.mit.edu	37	11	59368079	59368079	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:59368079T>A	uc001noc.1	-	6	1681	c.1201A>T	c.(1201-1203)Acc>Tcc	p.T401S	OSBP_uc009ymr.1_Non-coding_Transcript	NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	401					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCCTTTTTGGTCTCCTCCAGC	0.418000														38			16		0	0	0.004990	0	0
KDR	3791	broad.mit.edu	37	4	55955863	55955863	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:55955863G>A	uc003has.3	-	23	3601	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F	KDR_uc003hat.1_Missense_Mutation_p.S1100F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1100	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTACCTAAGGAAAATATTTC	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				69			25		0	0	0.007291	0	0
TMIGD1	388364	broad.mit.edu	37	17	28652031	28652031	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:28652031T>C	uc002hfa.1	-	3	516	c.443A>G	c.(442-444)aAc>aGc	p.N148S	TMIGD1_uc010csh.1_Missense_Mutation_p.N148S	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 1 (TMIGD1), mRNA.	148	Ig-like C2-type 2.					integral to membrane		p.A147T(2)		breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						AGCCTGGGGGTTGGCTTTCAC	0.443000														89			66		0	0	0.014410	0	0
PRB2	653247	broad.mit.edu	37	12	11546281	11546281	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:11546281C>T	uc010shk.1	-	2	766	c.731G>A	c.(730-732)gGa>gAa	p.G244E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.602000														337			75		0	0	0.014410	0	0
C19orf21	126353	broad.mit.edu	37	19	758060	758060	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:758060G>A	uc002lpo.3	+	1	1197	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	372										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		GGGCCTGCACGTGGGCCGGGC	0.701000														8			8		0	0	0.006214	0	0
MYLK	4638	broad.mit.edu	37	3	123452773	123452773	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:123452773C>T	uc003ego.3	-	9	1352	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	MYLK_uc011bjw.2_Missense_Mutation_p.R357K|MYLK_uc003egp.3_Missense_Mutation_p.R357K|MYLK_uc003egq.3_Missense_Mutation_p.R357K|MYLK_uc003egr.3_Missense_Mutation_p.R357K|MYLK_uc003egs.3_Missense_Mutation_p.R181K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	357					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCCTGGTGCTCTTGGTTCCGG	0.647000														108			40		0	0	0.009718	0	0
KL	9365	broad.mit.edu	37	13	33628071	33628071	+	Silent	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:33628071A>G	uc001uus.3	+	1	995	c.987A>G	c.(985-987)aaA>aaG	p.K329K	KL_uc001uur.1_Silent_p.K22K	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	329	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGTTTGCCAAACCCGTATTTA	0.403000														62			18		0	0	0.007413	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813746	100813746	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:100813746G>A	uc010svi.2	+	11	1892	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	SLC17A8_uc009ztx.3_Missense_Mutation_p.E477K	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	527					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGACCAGGACGAATTAGCTGA	0.468000														30			12		0	0	0.010729	0	0
C7orf29	113763	broad.mit.edu	37	7	150027718	150027718	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:150027718C>T	uc003wgy.3	+	0	781	c.225C>T	c.(223-225)acC>acT	p.T75T	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	75										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGCTGGCCACCTTGCTGGACC	0.612000														91			31		0	0	0.007291	0	0
COQ4	51117	broad.mit.edu	37	9	131088142	131088142	+	Silent	SNP	C	T	T	rs111535641		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:131088142C>T	uc004bur.4	+	3	731	c.384C>T	c.(382-384)ctC>ctT	p.L128L	COQ4_uc011max.1_Silent_p.L128L|COQ4_uc010mxy.3_Silent_p.L104L	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA.	128					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						GCGAGTATCTCCGTTTCCTGG	0.572000														33			9		0	0	0.006214	0	0
SLC15A3	51296	broad.mit.edu	37	11	60711223	60711223	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:60711223C>A	uc001nqn.2	-	2	1168	c.934G>T	c.(934-936)Gtg>Ttg	p.V312L	SLC15A3_uc001nqo.2_Missense_Mutation_p.V312L	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	312					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TTCACCAGCACCTGGAAGTTG	0.617000														45			6		0.00116845	0.0011959	0.001168	1	0
STC1	6781	broad.mit.edu	37	8	23709810	23709810	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:23709810C>T	uc003xdw.1	-	1	490	c.206G>A	c.(205-207)gGg>gAg	p.G69E		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	69					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GTCATACATCCCATCTGTGTC	0.483000														32			18		0	0	0.007413	0	0
C4orf17	84103	broad.mit.edu	37	4	100443719	100443719	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:100443719G>A	uc003huw.3	+	2	552	c.190G>A	c.(190-192)Gga>Aga	p.G64R	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	64			G -> E (in dbSNP:rs13143848).					p.G64E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AACATTGTGGGGAGTTGGCCA	0.428000														41			16		0	0	0.010504	0	0
HSPG2	3339	broad.mit.edu	37	1	22203098	22203098	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:22203098G>A	uc009vqd.3	-	21	2776	c.2736C>T	c.(2734-2736)ttC>ttT	p.F912F	HSPG2_uc001bfj.3_Silent_p.F911F	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	911	Laminin EGF-like 4; truncated.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TACTCAGGTGGAAAGAGCCGT	0.592000														25			11		0	0	0.008291	0	0
E2F8	79733	broad.mit.edu	37	11	19246337	19246337	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:19246337G>A	uc001mpm.3	-	12	2994	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Silent_p.F824F	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	824					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGGGGTACGGAAGAAACTTT	0.488000														62			10		0	0	0.008291	0	0
MLL2	8085	broad.mit.edu	37	12	49428389	49428389	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:49428389G>A	uc001rta.4	-	35	10416	c.10416C>T	c.(10414-10416)aaC>aaT	p.N3472N		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3472	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Q3471*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTGCCACATGGTTCTGCAGAT	0.552000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				14			4		0	0	0.009096	0	0
HABP2	3026	broad.mit.edu	37	10	115336971	115336971	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:115336971C>T	uc001lai.4	+	4	497	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	HABP2_uc021pyr.1_Missense_Mutation_p.P106S|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Silent_p.L120L	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	132	EGF-like 2.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CCAGAGTCCTCCCTACTACCG	0.522000														59			30		0	0	0.007291	0	0
CREB3L2	64764	broad.mit.edu	37	7	137593038	137593039	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:137593038_137593039GG>AA	uc003vtw.3	-	4	1123_1124	c.727_728CC>TT	c.(727-729)ccc>TTc	p.P243F	CREB3L2_uc003vtx.2_Missense_Mutation_p.P243F|CREB3L2_uc003vtv.3_Missense_Mutation_p.P180F	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	243					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAGGGCGGAGGGGGCCCGGGGT	0.653000			T	FUS	fibromyxoid sarcoma									3			3		0	0	0.004672	0	0
RASGRP1	10125	broad.mit.edu	37	15	38803888	38803888	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:38803888T>A	uc001zke.4	-	7	1061	c.883A>T	c.(883-885)Atg>Ttg	p.M295L	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.M157L|RASGRP1_uc010bbg.3_Missense_Mutation_p.M157L|RASGRP1_uc001zkd.4_Missense_Mutation_p.M295L	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	295	Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		ATCACAGCCATCAGTGTATTG	0.473000														24			8		0	0	0.003080	0	0
TPTE	7179	broad.mit.edu	37	21	10942968	10942968	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:10942968G>A	uc002yip.1	-	11	987	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.H189Y|TPTE_uc002yir.1_Missense_Mutation_p.H169Y|TPTE_uc010gkv.1_Missense_Mutation_p.H69Y	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	207					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAAACAGATGAAAAATTCTT	0.308000														45			8		0	0	0.003080	0	0
CEP104	9731	broad.mit.edu	37	1	3742987	3742987	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:3742987C>T	uc001aky.2	-	16	2561	c.2202G>A	c.(2200-2202)ggG>ggA	p.G734G	CEP104_uc010nzm.1_Non-coding_Transcript	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	734						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GGGCTGCTTTCCCTCCTTGAA	0.398000														45			17		0	0	0.006122	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67221645	67221645	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:67221645C>T	uc002erx.1	-	4	764	c.523G>A	c.(523-525)Gat>Aat	p.D175N	EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Intron|EXOC3L1_uc010vje.1_Missense_Mutation_p.D114N|EXOC3L1_uc002ery.1_Missense_Mutation_p.D119N	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	175	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCCCACGTATCCTCTCGCAGC	0.617000														60			12		0	0	0.013537	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760642	186760642	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:186760642C>T	uc003frb.3	+	3	784	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Silent_p.L51L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	51					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTTAAAGAGTCTGGGGAAATT	0.507000														56			22		0	0	0.010504	0	0
CCDC149	91050	broad.mit.edu	37	4	24838983	24838983	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:24838983C>G	uc003grc.3	-	5	628	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	CCDC149_uc003grd.3_Intron|CCDC149_uc011bxr.2_Missense_Mutation_p.E177Q|CCDC149_uc003gre.3_Missense_Mutation_p.E122Q|CCDC149_uc003gra.2_Missense_Mutation_p.E50Q	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	177										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TCCTGAAGCTCGTCCACAGAA	0.522000														48			18		0	0	0.008871	0	0
GRM8	2918	broad.mit.edu	37	7	126173342	126173342	+	Silent	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:126173342G>T	uc003vlr.2	-	7	2405	c.2094C>A	c.(2092-2094)atC>atA	p.I698I	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.I698I|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	698					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.V697V(1)		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)	GGCTGAAGGTGATCACCAGCT	0.507000										HNSCC(24;0.065)				34			22		1.2644e-06	1.30742e-06	0.010504	1	0
EVC2	132884	broad.mit.edu	37	4	5667321	5667321	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:5667321G>A	uc003gij.3	-	7	980	c.926C>T	c.(925-927)tCc>tTc	p.S309F	EVC2_uc003gik.3_Missense_Mutation_p.S229F|EVC2_uc011bwb.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	309						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGCACAAGGGAGAGGAGGAA	0.577000														35			15		0	0	0.020292	0	0
AKNA	80709	broad.mit.edu	37	9	117108288	117108288	+	Splice_Site	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:117108288A>G	uc004biq.3	-	17	3650	c.3515_splice	c.e17-1	p.S1172_splice	AKNA_uc004bin.3_Splice_Site_p.S419_splice|AKNA_uc004bio.3_Splice_Site_p.S632_splice|AKNA_uc004bip.3_Splice_Site_p.S1091_splice|AKNA_uc004bir.3_Splice_Site_p.S1172_splice|AKNA_uc004bis.3_Splice_Site_p.S1172_splice|AKNA_uc010mve.2_Splice_Site_p.S1053_splice	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CAGATTCTGAACCTGGGGTAG	0.572000														19			8		0	0	0.004482	0	0
THEM5	284486	broad.mit.edu	37	1	151825969	151825969	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:151825969G>A	uc021oyw.1	-	0	205	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	25							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGTCTGGGCAGGATACGGGGG	0.582000														142			32		0	0	0.021022	0	0
BCL9	607	broad.mit.edu	37	1	147090901	147090901	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:147090901G>A	uc001epq.3	+	7	1680	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	BCL9_uc010ozr.1_Missense_Mutation_p.V240M	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	314	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAATAGGGCAGTGACCCCTGT	0.582000			T	"""IGH@, IGL@"""	B-ALL									106			19		0	0	0.008871	0	0
CORO1C	23603	broad.mit.edu	37	12	109046188	109046188	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:109046188G>A	uc009zva.3	-	7	1069	c.1020C>T	c.(1018-1020)gaC>gaT	p.D340D	CORO1C_uc001tnj.3_Silent_p.D287D|CORO1C_uc010sxf.2_Silent_p.D250D	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	287					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.E340*(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GAATACTGCTGTCACCCTGTA	0.478000														71			33		0	0	0.009718	0	0
ABP1	26	broad.mit.edu	37	7	150554734	150554734	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:150554734G>A	uc003why.1	+	2	5394	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	ABP1_uc003whz.1_Silent_p.P392P|ABP1_uc003wia.1_Silent_p.P392P	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	392					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TCGACTGCCCGGAGACCGCCA	0.607000														89			48		0	0	0.014410	0	0
USP25	29761	broad.mit.edu	37	21	17183476	17183476	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:17183476A>G	uc011aby.1	+	8	1095	c.878A>G	c.(877-879)aAc>aGc	p.N293S	USP25_uc002yjz.1_Missense_Mutation_p.N293S|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Missense_Mutation_p.N293S	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	293					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AAGCCAAAGAACCCCATGGTA	0.318000														53			20		0	0	0.016522	0	0
CHD5	26038	broad.mit.edu	37	1	6206417	6206417	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:6206417G>A	uc001amb.2	-	10	1768	c.1657C>T	c.(1657-1659)Ccc>Tcc	p.P553S	CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	553	Chromo 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TAGTCAAAGGGGGGCGGCTCA	0.552000														55			12		0	0	0.020292	0	0
MUC16	94025	broad.mit.edu	37	19	8995652	8995652	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:8995652G>A	uc002mkp.3	-	62	41540	c.41336C>T	c.(41335-41337)tCg>tTg	p.S13779L	MUC16_uc010dwi.3_Intron|MUC16_uc010dwj.3_Missense_Mutation_p.S596L|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13781				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAAATATCGAGGCTGGAGT	0.463000														25			11		0	0	0.016723	0	0
AFTPH	54812	broad.mit.edu	37	2	64794825	64794825	+	Silent	SNP	A	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:64794825A>C	uc002sdc.3	+	1	2097	c.2065A>C	c.(2065-2067)Aga>Cga	p.R689R	AFTPH_uc002scz.3_Silent_p.R689R|AFTPH_uc002sda.3_Silent_p.R689R|AFTPH_uc002sdb.3_Silent_p.R689R	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	689					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AATAAAAACGAGAGAGGCCTT	0.368000														36			12		0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13794115	13794115	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:13794115G>A	uc003jfd.2	-	47	7982	c.7940C>T	c.(7939-7941)cCt>cTt	p.P2647L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2647	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTCCCGCAGGAGGGCCATA	0.368000									Kartagener syndrome					24			17		0	0	0.006122	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561083	44561083	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:44561083C>T	uc002lcr.1	-	0	906	c.553G>A	c.(553-555)Gag>Aag	p.E185K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	185					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.P184T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCAGCGGGCTCAGGGCCCTCG	0.692000														41			23		0	0	0.016522	0	0
TTN	7273	broad.mit.edu	37	2	179433986	179433986	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:179433986G>A	uc021vsy.1	-	274	69394	c.69169C>T	c.(69169-69171)Cct>Tct	p.P23057S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P16752S|TTN_uc021vta.1_Missense_Mutation_p.P16685S|TTN_uc021vtb.1_Missense_Mutation_p.P16560S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23984	Fibronectin type-III 67.						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)			TCCAACAAAGGAGGTTCCCAT	0.403000														91			28		0	0	0.006320	0	0
ANKS1A	23294	broad.mit.edu	37	6	34937853	34937853	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:34937853C>T	uc003ojx.4	+	2	487	c.345C>T	c.(343-345)taC>taT	p.Y115Y	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvq.1_Non-coding_Transcript|ANKS1A_uc010jvr.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	115						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAGGCTGCTACCCTCTGCATT	0.512000														41			28		0	0	0.007291	0	0
TDRD1	56165	broad.mit.edu	37	10	115961172	115961172	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:115961172C>T	uc001lbg.1	+	4	686	c.533C>T	c.(532-534)tCg>tTg	p.S178L	TDRD1_uc001lbf.3_Missense_Mutation_p.S169L|TDRD1_uc001lbh.1_Missense_Mutation_p.S169L|TDRD1_uc001lbi.1_Missense_Mutation_p.S169L|TDRD1_uc010qsc.2_5'Flank|TDRD1_uc001lbj.3_5'Flank	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	178					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTTCTAGGATCGCTGAGGTGC	0.458000														37			9		0	0	0.010729	0	0
MYH4	4622	broad.mit.edu	37	17	10348312	10348312	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:10348312A>C	uc002gmn.3	-	36	5558	c.5447T>G	c.(5446-5448)aTc>aGc	p.I1816S	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1816					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.I1816M(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CAGTTTCTGGATCTGCTTCTT	0.542000														85			32		0	0	0.015359	0	0
SLC22A10	387775	broad.mit.edu	37	11	63069867	63069867	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:63069867C>T	uc009yor.3	+	6	1345	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.F219F	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	379						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCAACATTTTCCTGTTGCAGG	0.408000														16			4		0	0	0.014758	0	0
FBXW7	55294	broad.mit.edu	37	4	153247254	153247254	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:153247254A>C	uc003ims.3	-	9	1710	c.1548T>G	c.(1546-1548)agT>agG	p.S516R	FBXW7_uc011cii.2_Missense_Mutation_p.S516R|FBXW7_uc003imt.3_Missense_Mutation_p.S516R|FBXW7_uc011cih.2_Missense_Mutation_p.S340R|FBXW7_uc003imq.3_Missense_Mutation_p.S436R|FBXW7_uc003imr.3_Missense_Mutation_p.S398R	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	516					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CATATGCTCCACTAACAACCC	0.438000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									22			6		0	0	0.001168	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21051369	21051369	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:21051369G>A	uc010sil.2	+	12	1748	c.1683_splice	c.e12-1	p.K561_splice	SLCO1B3_uc001rek.3_Splice_Site_p.K561_splice|SLCO1B3_uc001rel.3_Splice_Site_p.K561_splice|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	561					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCATATTTCAGGATTGTTCAA	0.299000														26			6		0	0	0.001168	0	0
TLN1	7094	broad.mit.edu	37	9	35700339	35700339	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:35700339G>A	uc003zxt.2	-	48	6863	c.6509C>T	c.(6508-6510)tCt>tTt	p.S2170F		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	2170					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCTGGGGTAGAGGTCTTGGC	0.527000														72			15		0	0	0.004007	0	0
DSCR4	10281	broad.mit.edu	37	21	39427068	39427068	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:39427068C>T	uc002ywp.3	-	2	343	c.238G>A	c.(238-240)Gag>Aag	p.E80K		NM_005867	NP_005858	P56555	DSCR4_HUMAN	Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA.	80								p.E80*(2)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						TGCTGCCCCTCTCTGGTTCTG	0.428000														48			20		0	0	0.012319	0	0
ODZ3	55714	broad.mit.edu	37	4	183651361	183651361	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:183651361C>T	uc003ivd.1	+	13	2669	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F	ODZ3_uc003ive.1_Missense_Mutation_p.S271F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	865					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGCCTTGCATCTGTCATCAGA	0.378000														47			15		0	0	0.004990	0	0
BAGE	574	broad.mit.edu	37	21	11039428	11039428	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:11039428C>T	uc002yiu.1	-	6	767	c.567_splice	c.e6-1		TPTE_uc002yis.1_Splice_Site|BAGE_uc002yit.1_Splice_Site	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.							extracellular region								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)		ATTCGGTATTCACTGTATGTT	0.294000														38			4		0	0	0.009096	0	0
GDF2	2658	broad.mit.edu	37	10	48416646	48416646	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:48416646C>T	uc001jfa.1	-	0	208	c.48G>A	c.(46-48)ctG>ctA	p.L16L		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	16					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGGAGCCAGCCAGCAGGGACA	0.682000														16			7		0	0	0.004482	0	0
COL15A1	1306	broad.mit.edu	37	9	101806876	101806876	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:101806876C>T	uc004azb.1	+	24	2807	c.2601C>T	c.(2599-2601)atC>atT	p.I867I		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	867	Triple-helical region 4 (COL4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.I867I(2)		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)				CGGGTGCCATCCTGACAGAGG	0.502000														61			14		0	0	0.003163	0	0
ARFIP1	27236	broad.mit.edu	37	4	153802227	153802227	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:153802227T>C	uc003imz.3	+	5	800	c.524T>C	c.(523-525)aTt>aCt	p.I175T	ARFIP1_uc003inb.3_Missense_Mutation_p.I143T|ARFIP1_uc003ina.3_Missense_Mutation_p.I143T|ARFIP1_uc003inc.3_Missense_Mutation_p.I175T|ARFIP1_uc011cij.2_Intron	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.	175	AH.				intracellular protein transport|regulation of protein secretion	Golgi membrane|cytosol			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TATGAAAATATTTTAAAACTG	0.393000														24			7		0	0	0.003080	0	0
LOC392232	392232	broad.mit.edu	37	8	73157251	73157251	+	RNA	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:73157251C>T	uc022avu.1	-	2		c.351G>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		CATCCATAATCATTGCATTCA	0.413000														15			4		0	0	0.014758	0	0
REG1A	5967	broad.mit.edu	37	2	79349984	79349984	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:79349984G>A	uc010ysd.2	+	3	406	c.339G>A	c.(337-339)tgG>tgA	p.W113*	REG1A_uc002snz.3_Nonsense_Mutation_p.W113*	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	113	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCTGGCACTGGAGCAGTGGGT	0.557000														47			14		0	0	0.006122	0	0
ADORA3	140	broad.mit.edu	37	1	112043112	112043112	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:112043112G>A	uc001ebh.4	-	1	1184	c.417C>T	c.(415-417)ttC>ttT	p.F139F	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	139					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATCCCACCAGGAATGACACCA	0.498000														90			26		0	0	0.021523	0	0
OR6C4	341418	broad.mit.edu	37	12	55945195	55945196	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:55945195_55945196GG>AA	uc010spp.2	+	0	185_186	c.185_186GG>AA	c.(184-186)cgg>cAA	p.R62Q		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R62W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TTCTTCCTCCGGAATTTCTCCT	0.431000														37			9		0	0	0.004672	0	0
FCGBP	8857	broad.mit.edu	37	19	40408560	40408560	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:40408560G>A	uc002omp.4	-	7	4287	c.4279C>T	c.(4279-4281)Ccc>Tcc	p.P1427S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1427	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCAGGCAGGGAGAGTCGGGC	0.627000														37			17		0	0	0.004007	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522721	41522721	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:41522721C>T	uc002opr.1	+	8	1472	c.1465C>T	c.(1465-1467)Ctg>Ttg	p.L489L	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.L289L	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	489					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GATCCGCTTCCTGCCCCGCTG	0.592000														21			10		0	0	0.010729	0	0
NLRP10	338322	broad.mit.edu	37	11	7981464	7981464	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:7981464G>A	uc001mfv.1	-	1	1712	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	565							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)		CATACAGGGAGAATTCCAAAT	0.363000														39			17		0	0	0.007413	0	0
FER1L6	654463	broad.mit.edu	37	8	125131862	125131862	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:125131862C>T	uc003yqw.3	+	40	5611	c.5405C>T	c.(5404-5406)tCc>tTc	p.S1802F	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1802						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAGACACCTCCTTTTCGTGG	0.468000														65			10		0	0	0.010729	0	0
LOC440563	440563	broad.mit.edu	37	1	13183269	13183269	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:13183269C>T	uc010obg.2	-	1	847	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	202						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TCAATTTTTTCCAGGTTTTCC	0.428000														187			29		0	0	0.010818	0	0
HEATR5A	25938	broad.mit.edu	37	14	31852855	31852855	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:31852855G>A	uc001wrf.4	-	9	1653	c.1468C>T	c.(1468-1470)Cgt>Tgt	p.R490C	HEATR5A_uc010ami.3_Missense_Mutation_p.R95C|HEATR5A_uc001wrg.1_Missense_Mutation_p.R79C|HEATR5A_uc010tpk.1_Missense_Mutation_p.R490C	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	484							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCAAGGCAACGATCCAAGAGT	0.468000														104			36		0	0	0.009718	0	0
DAZL	1618	broad.mit.edu	37	3	16635178	16635178	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:16635178C>T	uc003cba.3	-	8	1067	c.779G>A	c.(778-780)gGa>gAa	p.G260E	DAZL_uc003cbb.3_Missense_Mutation_p.G240E	NM_001190811	NP_001177740	Q92904	DAZL_HUMAN	Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA.	240					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TGGGCCATTTCCAGAGGGTGG	0.343000														9			8		0	0	0.006214	0	0
RBP3	5949	broad.mit.edu	37	10	48390152	48390152	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:48390152G>A	uc001jez.3	-	0	840	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	242	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGATGTGCGCGATGTCCTCGG	0.647000														29			12		0	0	0.016723	0	0
FAIM2	23017	broad.mit.edu	37	12	50294991	50294991	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:50294991C>T	uc001rvj.2	-	1	318	c.133G>A	c.(133-135)Gag>Aag	p.E45K	FAIM2_uc001rvi.2_5'UTR	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	45					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane		p.E45Q(2)		endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TTCATCCCCTCCCCAGAGGTG	0.662000														31			15		0	0	0.020292	0	0
NAF1	92345	broad.mit.edu	37	4	164050415	164050415	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:164050415G>A	uc003iqj.3	-	7	1313	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	373					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	p.F373L(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ATCCTCGTGTGAATTCTCTGT	0.448000														50			22		0	0	0.014323	0	0
FSTL5	56884	broad.mit.edu	37	4	162306931	162306931	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:162306931C>T	uc003iqh.3	-	15	2948	c.2512G>A	c.(2512-2514)Gga>Aga	p.G838R	FSTL5_uc003iqi.3_Missense_Mutation_p.G837R|FSTL5_uc010iqv.3_Missense_Mutation_p.G828R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	838						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACTGTATTTCCTTTTTCAACT	0.358000														19			11		0	0	0.010729	0	0
PSG9	5678	broad.mit.edu	37	19	43763210	43763210	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:43763210C>T	uc002owd.4	-	3	886	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Missense_Mutation_p.E170K|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	263	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.493000														215			91		0	0	0.014410	0	0
MIR520A	574467	broad.mit.edu	37	19	54194139	54194139	+	RNA	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:54194139G>A	uc021uzs.1	+	0		c.5G>A								Homo sapiens microRNA 520a (MIR520A), microRNA.																		GAAGATCTCAGGCTGTGACCC	0.433000														124			48		0	0	0.014410	0	0
FRAS1	80144	broad.mit.edu	37	4	79420968	79420968	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:79420968G>A	uc003hlb.2	+	60	9649	c.9209G>A	c.(9208-9210)aGa>aAa	p.R3070K	FRAS1_uc003hlc.1_Missense_Mutation_p.R72K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3065	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGATCCGCAGAGGGGATCAG	0.552000														69			29		0	0	0.008361	0	0
PTPRC	5788	broad.mit.edu	37	1	198685862	198685862	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:198685862A>T	uc001gur.1	+	12	1517	c.1337A>T	c.(1336-1338)aAt>aTt	p.N446I	PTPRC_uc001gut.1_Missense_Mutation_p.N285I|PTPRC_uc009wzf.1_Missense_Mutation_p.N334I|PTPRC_uc021pgy.1_Missense_Mutation_p.N400I|PTPRC_uc010ppg.1_Missense_Mutation_p.N382I	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	446	Fibronectin type-III 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GATTTGCAAAATTTAAAACCT	0.303000														38			37		0	0	0.021022	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400857	11400857	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:11400857C>T	uc003gmq.3	-	1	1096	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	HS3ST1_uc021xmg.1_Missense_Mutation_p.R258Q	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	258						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCCGCTGTCCCGCAGGCAGTA	0.512000														49			18		0	0	0.004990	0	0
FLT4	2324	broad.mit.edu	37	5	180057580	180057580	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:180057580G>A	uc003mlz.4	-	2	454	c.375C>T	c.(373-375)gcC>gcT	p.A125A	FLT4_uc003mma.4_Silent_p.A125A|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Silent_p.A125A|FLT4_uc011dgz.1_Silent_p.A125A|FLT4_uc011dha.1_Silent_p.A125A	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	125	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGGAGCTGGCGGCCGTGGTGC	0.642000														36			7		0	0	0.001984	0	0
FMN2	56776	broad.mit.edu	37	1	240371412	240371412	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:240371412C>T	uc010pye.2	+	5	3537	c.3312C>T	c.(3310-3312)ccC>ccT	p.P1104P	FMN2_uc010pyd.2_Silent_p.P1100P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1100	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCCGCCCCCTCTACCCG	0.736000														26			26		0	0	0.015359	0	0
BCO2	83875	broad.mit.edu	37	11	112084579	112084579	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:112084579G>A	uc001pnf.3	+	8	1444	c.1327G>A	c.(1327-1329)Gga>Aga	p.G443R	BCO2_uc001pne.1_Missense_Mutation_p.G270R|BCO2_uc001png.3_Missense_Mutation_p.G370R|BCO2_uc001pnh.3_Missense_Mutation_p.G409R|BCO2_uc010rwt.2_Missense_Mutation_p.G338R|BCO2_uc009yyn.3_Missense_Mutation_p.G409R|BCO2_uc001pni.3_Missense_Mutation_p.G409R	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	443					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ACAGGCTGATGGAACGGTATG	0.398000														94			40		0	0	0.009718	0	0
XIST	7503	broad.mit.edu	37	X	73050952	73050952	+	RNA	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:73050952G>A	uc004ebm.1	-	3		c.11731C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CTGGGACCAGGAAAGTATCTT	0.463000														9			7		0	0	0.004482	0	0
C4orf37	285555	broad.mit.edu	37	4	98865158	98865158	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:98865158C>T	uc003htt.2	-	8	1024	c.934_splice	c.e8-1	p.E312_splice		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	312										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		TGCCAAAATTCCTGTTGAAAG	0.323000														35			8		0	0	0.004482	0	0
HYDIN	54768	broad.mit.edu	37	16	70934932	70934932	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:70934932T>C	uc002ezr.3	-	52	9171	c.9020A>G	c.(9019-9021)aAc>aGc	p.N3007S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3008										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTCTTGATGTTGACAGGCTT	0.517000														145			24		0	0	0.007835	0	0
OR6C75	390323	broad.mit.edu	37	12	55759556	55759556	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:55759556G>A	uc010spk.2	+	0	662	c.662G>A	c.(661-663)cGg>cAg	p.R221Q		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AACATCATCCGGACAATTCTG	0.388000														21			7		0	0	0.003080	0	0
TMEM119	338773	broad.mit.edu	37	12	108986010	108986011	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:108986010_108986011GG>AA	uc001tng.3	-	1	312_313	c.149_150CC>TT	c.(148-150)tcc>tTT	p.S50F	TMEM119_uc021rdl.1_Missense_Mutation_p.S50F	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	50						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GGCTCGGGGAGGAGGCCGACGA	0.718000														17			7		0	0	0.004672	0	0
MYH2	4620	broad.mit.edu	37	17	10448786	10448786	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:10448786G>A	uc010coi.3	-	4	510	c.382C>T	c.(382-384)Ccc>Tcc	p.P128S	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.P128S|MYH2_uc010coj.3_Missense_Mutation_p.P128S	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	128	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CACTTGTAGGGGTTGACAGTG	0.468000														49			12		0	0	0.010729	0	0
DNAH5	1767	broad.mit.edu	37	5	13777445	13777445	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:13777445G>A	uc003jfd.2	-	53	9013	c.8971C>T	c.(8971-8973)Ctg>Ttg	p.L2991L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2991	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTCCATCAGATTTGATGTG	0.333000									Kartagener syndrome					15			3		0	0	0.004672	0	0
IGH	0	broad.mit.edu	37	16	31973485	31973485	+	RNA	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:31973485G>A	uc002ect.3	+	0		c.77G>A								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H186.																		GCAGCCTCTGGATTCACCTTC	0.582000														98			13		0	0	0.018920	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130342957	130342957	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:130342957C>T	uc010scd.2	+	7	2094	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	698	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	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;0.0631)|Lung(977;0.215)		GCTACAATTTCGTGGTGGCCA	0.582000														44			25		0	0	0.005443	0	0
USH2A	7399	broad.mit.edu	37	1	216017672	216017672	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:216017672C>T	uc001hku.1	-	45	9609	c.9222G>A	c.(9220-9222)ctG>ctA	p.L3074L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3074	Fibronectin type-III 17.				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)		ACAGGTCTCTCAGAATAAACG	0.378000										HNSCC(13;0.011)				18			16		0	0	0.008871	0	0
STAT2	6773	broad.mit.edu	37	12	56745206	56745206	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:56745206G>A	uc001slc.3	-	8	1014	c.811C>T	c.(811-813)Cac>Tac	p.H271Y	STAT2_uc001slb.3_5'Flank|STAT2_uc001sld.3_Missense_Mutation_p.H267Y|STAT2_uc010sqn.2_Missense_Mutation_p.H267Y	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	271					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGCCTCAGGTGAAACAACAGC	0.522000														121			42		0	0	0.011902	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197197	26197197	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:26197197C>T	uc003ngv.3	-	1	679	c.282G>A	c.(280-282)caG>caA	p.Q94Q	HIST1H3D_uc021ymt.1_Silent_p.Q94Q|HIST1H2BF_uc003ngx.3_5'Flank	NM_003530	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3d (HIST1H3D), mRNA.	94					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CGCAGGCCTCCTGCAGCGCCA	0.577000														75			48		0	0	0.014410	0	0
MCM3	4172	broad.mit.edu	37	6	52144196	52144196	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:52144196G>A	uc003pan.1	-	4	843	c.733C>T	c.(733-735)Cct>Tct	p.P245S	MCM3_uc011dwu.1_Missense_Mutation_p.P199S	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	245					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TTCTTTCCAGGAAGGCAACGG	0.522000														54			41		0	0	0.006999	0	0
FREM2	341640	broad.mit.edu	37	13	39338470	39338470	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:39338470C>T	uc001uwv.3	+	2	5602	c.5293C>T	c.(5293-5295)Cgt>Tgt	p.R1765C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1765	Calx-beta 1.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R1765C(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCAGAATTTTCGTCTGAATTG	0.348000														47			17		0	0	0.010504	0	0
FABP9	646480	broad.mit.edu	37	8	82371483	82371483	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:82371483C>T	uc011lfo.2	-	1	163	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	Homo sapiens fatty acid binding protein 9, testis (FABP9), mRNA.	55							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			AAAGAACTTTCTGTTCTTATG	0.428000														29			15		0	0	0.004007	0	0
ZNF425	155054	broad.mit.edu	37	7	148802164	148802164	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:148802164C>T	uc003wfj.3	-	3	932	c.799G>A	c.(799-801)Gtc>Atc	p.V267I		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	267					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCGGTGTGGACAACCTGATGA	0.612000														65			14		0	0	0.016723	0	0
CYP20A1	57404	broad.mit.edu	37	2	204116694	204116694	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:204116694C>T	uc010zif.2	+	3	916	c.294C>T	c.(292-294)gaC>gaT	p.D98D	CYP20A1_uc002uzv.4_Silent_p.D98D|CYP20A1_uc002uzx.4_5'UTR|CYP20A1_uc002uzy.4_5'UTR|CYP20A1_uc002uzw.4_Non-coding_Transcript	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	98						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TTTCAGCGGACCCTTTTGAAA	0.363000														35			7		0	0	0.003080	0	0
KCNC3	3748	broad.mit.edu	37	19	50823976	50823976	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:50823976G>A	uc002pru.1	-	2	2339	c.2044C>T	c.(2044-2046)Cag>Tag	p.Q682*	KCNC3_uc002prt.1_Nonsense_Mutation_p.Q318*	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	682					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		ATGGCAGGCTGGTCAATGGCT	0.647000														31			18		0	0	0.008871	0	0
OR2A14	135941	broad.mit.edu	37	7	143827001	143827001	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:143827001C>T	uc011kua.2	+	0	796	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H265H(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GTCCCGCCATCCTGAGGAGCA	0.547000														157			37		0	0	0.010771	0	0
ANO4	121601	broad.mit.edu	37	12	101381320	101381320	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:101381320C>T	uc010svm.1	+	7	1178	c.606C>T	c.(604-606)atC>atT	p.I202I	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Silent_p.I167I|ANO4_uc001thx.2_Silent_p.I202I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	202						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACCACAGGATCGATAAACAAA	0.498000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		219			77		0	0	0.014410	0	0
OBP2A	29991	broad.mit.edu	37	9	138438731	138438731	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:138438731G>A	uc004cgc.3	+	1	222	c.180G>A	c.(178-180)ggG>ggA	p.G60G	OBP2A_uc004cgb.3_Silent_p.G60G|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Intron			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	60					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TGGGCGGTGGGAACTTGGAAG	0.632000														31			10		0	0	0.008291	0	0
EXD2	55218	broad.mit.edu	37	14	69701576	69701576	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:69701576C>T	uc001xky.3	+	5	1123	c.877C>T	c.(877-879)Cga>Tga	p.R293*	EXD2_uc001xkt.3_Nonsense_Mutation_p.R168*|EXD2_uc001xkv.3_Nonsense_Mutation_p.R293*|EXD2_uc001xkw.3_Nonsense_Mutation_p.R168*|EXD2_uc001xku.3_Nonsense_Mutation_p.R38*|EXD2_uc001xkx.3_Nonsense_Mutation_p.R168*|EXD2_uc010aqt.3_Nonsense_Mutation_p.R293*|EXD2_uc010tte.2_Nonsense_Mutation_p.R293*	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	168					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CATCCCATTTCGAAGCAAAGG	0.443000														42			16		0	0	0.006122	0	0
FBN3	84467	broad.mit.edu	37	19	8194148	8194148	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:8194148C>T	uc002mjf.3	-	15	2163	c.2146G>A	c.(2146-2148)Ggt>Agt	p.G716S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	716	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTGAGGCACCTGCCTCATAA	0.627000														21			23		0	0	0.014323	0	0
CACNA1C	775	broad.mit.edu	37	12	2797764	2797764	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:2797764C>T	uc009zdu.1	+	48	6498	c.6185C>T	c.(6184-6186)tCc>tTc	p.S2062F	CACNA1C_uc001qkc.2_Missense_Mutation_p.S1998F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S1979F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S1998F|CACNA1C_uc001qke.2_Missense_Mutation_p.S1968F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S1987F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S2020F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S1985F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S1987F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S2027F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S2014F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S1979F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S1979F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S2039F|CACNA1C_uc001qko.2_Missense_Mutation_p.S1999F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S1979F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S2007F|CACNA1C_uc001qku.2_Missense_Mutation_p.S2014F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S1996F|CACNA1C_uc001qks.2_Missense_Mutation_p.S1979F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S1998F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S1976F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S1979F|CACNA1C_uc001qki.1_Missense_Mutation_p.S1786F|CACNA1C_uc010sea.1_Missense_Mutation_p.S670F|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.S297F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	2062					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGGTCGAGTCCAGTGAGAAA	0.697000														55			20		0	0	0.007413	0	0
KCNA6	3742	broad.mit.edu	37	12	4919931	4919931	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:4919931G>A	uc001qng.3	+	0	1590	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	KCNA6_uc021qtr.1_Missense_Mutation_p.E242K	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	242						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CACCCCTGGGGAAATGGGGAC	0.557000										HNSCC(72;0.22)				94			33		0	0	0.017118	0	0
FASN	2194	broad.mit.edu	37	17	80042511	80042511	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:80042511G>A	uc002kdu.3	-	26	4763	c.4646C>T	c.(4645-4647)tCc>tTc	p.S1549F	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1549					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCGCAGCGAGGAGCAGACCCA	0.657000														13			5		0	0	0.014758	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610372	47610372	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:47610372G>A	uc001cqv.1	+	7	1099	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	CYP4A22_uc009vyo.3_Missense_Mutation_p.E350K|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	350						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGCCGGGAGGAGATCCATGG	0.612000														46			20		0	0	0.014323	0	0
TDRD6	221400	broad.mit.edu	37	6	46659159	46659159	+	Silent	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:46659159T>C	uc003oyj.3	+	0	3548	c.3294T>C	c.(3292-3294)tgT>tgC	p.C1098C	TDRD6_uc010jze.3_Silent_p.C1098C	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1098					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTGTCAGATGTTCATTATCTG	0.363000														116			28		0	0	0.007291	0	0
EVX2	344191	broad.mit.edu	37	2	176948373	176948373	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:176948373C>T	uc010zeu.2	-	0	318	c.132G>A	c.(130-132)caG>caA	p.Q44Q		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S43S(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GAGCCGGGTGCTGCGAATTTT	0.602000														60			14		0	0	0.016723	0	0
PPP4R4	57718	broad.mit.edu	37	14	94674843	94674843	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:94674843C>T	uc001ycs.1	+	2	388	c.234C>T	c.(232-234)ctC>ctT	p.L78L	PPP4R4_uc001ycr.3_Silent_p.L78L	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	78						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTGCAAATCTCCCATTTTTGA	0.373000														14			6		0	0	0.001984	0	0
LMO7	4008	broad.mit.edu	37	13	76382275	76382275	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:76382275G>A	uc021rkq.1	+	9	2191	c.1856G>A	c.(1855-1857)aGa>aAa	p.R619K	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.R386K|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.R292K	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	671						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GACTTGAAGAGATGGGAGGCC	0.527000														11			12		0	0	0.020292	0	0
FYTTD1	84248	broad.mit.edu	37	3	197505288	197505288	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:197505288C>T	uc003fyi.2	+	7	1030	c.811C>T	c.(811-813)Cct>Tct	p.P271S	FYTTD1_uc011bui.1_Missense_Mutation_p.P245S|FYTTD1_uc011buj.1_Non-coding_Transcript|FYTTD1_uc011buk.1_Missense_Mutation_p.P204S	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.	271					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CAAGAAAGTTCCTAAAGGTGT	0.348000														30			8		0	0	0.004482	0	0
HCN1	348980	broad.mit.edu	37	5	45645701	45645701	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:45645701C>T	uc003jok.3	-	1	460	c.435G>A	c.(433-435)tgG>tgA	p.W145*		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	145						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.W145*(2)|p.Y144S(1)		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						TTATTAAATCCCAGTAAAACC	0.308000														9			6		0	0	0.001984	0	0
PTPN14	5784	broad.mit.edu	37	1	214556657	214556657	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:214556657G>A	uc001hkk.2	-	12	3194	c.2541C>T	c.(2539-2541)atC>atT	p.I847I	PTPN14_uc021piy.1_Silent_p.I611I|PTPN14_uc010pty.2_Silent_p.I748I	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	847					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CACTCACCCTGATCATCATCT	0.507000														46			29		0	0	0.008361	0	0
ZNF549	256051	broad.mit.edu	37	19	58048918	58048918	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:58048918C>T	uc002qpb.2	+	3	795	c.546C>T	c.(544-546)ttC>ttT	p.F182F	ZNF549_uc002qpa.2_Silent_p.F169F	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAATCTTTTCCCATGCAAAG	0.483000														27			15		0	0	0.003163	0	0
FCRL1	115350	broad.mit.edu	37	1	157771723	157771723	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:157771723C>T	uc001frg.3	-	4	981	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.V290M|FCRL1_uc001fri.3_Missense_Mutation_p.V290M|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	290	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.A289V(1)		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)			TTGAGTGTCACCGCCTCACTG	0.547000														46			35		0	0	0.021022	0	0
CCDC38	120935	broad.mit.edu	37	12	96266060	96266060	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:96266060C>T	uc001tek.2	-	13	1691	c.1457G>A	c.(1456-1458)aGg>aAg	p.R486K		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	486										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTTTCATCCTCTCAATTGC	0.408000														134			41		0	0	0.014410	0	0
SRF	6722	broad.mit.edu	37	6	43146124	43146124	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:43146124C>T	uc003oui.3	+	4	1730	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	SRF_uc011dvf.2_Missense_Mutation_p.P215S	NM_003131	NP_003122	P11831	SRF_HUMAN	Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA.	419					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GATGTATGCCCCCACCTCGGG	0.627000														71			14		0	0	0.003163	0	0
POLH	5429	broad.mit.edu	37	6	43582080	43582080	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:43582080C>T	uc003ovq.4	+	10	2232	c.1928C>T	c.(1927-1929)cCg>cTg	p.P643L	POLH_uc010jyu.2_Missense_Mutation_p.P519L|POLH_uc011dvl.1_Non-coding_Transcript|POLH_uc003ovr.3_Missense_Mutation_p.P544L	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	Homo sapiens polymerase (DNA directed), eta (POLH), mRNA.	643					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TCCCTGGTACCGGTATGGGAT	0.502000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum					202			43		0	0	0.010771	0	0
NUDCD3	23386	broad.mit.edu	37	7	44467277	44467277	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:44467277G>A	uc003tkz.3	-	2	721	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	NUDCD3_uc010kye.3_Non-coding_Transcript	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	Homo sapiens NudC domain containing 3 (NUDCD3), mRNA.	179										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TAACTGTCGGGATTTTTCTGG	0.532000														37			10		0	0	0.008291	0	0
OPN1SW	611	broad.mit.edu	37	7	128415840	128415840	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:128415840C>T	uc003vnt.4	-	0	5	c.5G>A	c.(4-6)aGa>aAa	p.R2K		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	2					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CGACATTTTTCTCATGGATGC	0.507000														26			18		0	0	0.004990	0	0
PTPRN	5798	broad.mit.edu	37	2	220161981	220161981	+	Missense_Mutation	SNP	C	T	T	rs142270672		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:220161981C>T	uc002vkz.3	-	13	2303	c.2062G>A	c.(2062-2064)Gac>Aac	p.D688N	PTPRN_uc010zlc.2_Missense_Mutation_p.D598N|PTPRN_uc002vla.3_Missense_Mutation_p.D659N	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	688					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.D688N(2)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTGGAGATGTCCATGTTGGCT	0.657000														41			18		0	0	0.010504	0	0
CCR1	1230	broad.mit.edu	37	3	46245004	46245004	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:46245004G>A	uc003cph.1	-	1	872	c.801C>T	c.(799-801)ttC>ttT	p.F267F	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.F267F	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	267					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGGTGAACAGGAAGTCTTGGA	0.448000														24			7		0	0	0.004482	0	0
SCN11A	11280	broad.mit.edu	37	3	38936058	38936058	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:38936058G>A	uc021wvy.1	-	14	3000	c.2801C>T	c.(2800-2802)gCa>gTa	p.A934V	SCN11A_uc010hhn.1_Missense_Mutation_p.A50V	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	934					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GATGCGCTGTGCATTATCTTC	0.488000														127			43		0	0	0.014410	0	0
DYRK3	8444	broad.mit.edu	37	1	206821372	206821372	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:206821372A>T	uc001hej.3	+	2	997	c.829A>T	c.(829-831)Agt>Tgt	p.S277C	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.S257C	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	277	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CATGCTGGAAAGTTTCACATT	0.413000														91			21		0	0	0.014323	0	0
GRB7	2886	broad.mit.edu	37	17	37901727	37901727	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:37901727G>A	uc002hsr.3	+	10	1420	c.1145G>A	c.(1144-1146)gGg>gAg	p.G382E	GRB7_uc002hss.3_Missense_Mutation_p.G382E|GRB7_uc021twu.1_Missense_Mutation_p.G405E|GRB7_uc010cwc.3_Missense_Mutation_p.G382E|GRB7_uc002hst.3_Missense_Mutation_p.G382E	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	382					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCCATGCTGGGCGTGTCATT	0.612000														59			16		0	0	0.004990	0	0
NOS1	4842	broad.mit.edu	37	12	117768489	117768489	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:117768489G>A	uc001twn.2	-	1	1097	c.386C>T	c.(385-387)cCc>cTc	p.P129L	NOS1_uc001twm.2_Missense_Mutation_p.P129L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	129	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGCTTTGGTGGGGGGACCCAG	0.652000														57			25		0	0	0.018920	0	0
KLHL14	57565	broad.mit.edu	37	18	30322008	30322008	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:30322008G>A	uc002kxm.1	-	2	1340	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	318						cytosol|endoplasmic reticulum membrane		p.R318H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TTGTTAGAGCGAATTCTTCAC	0.428000														31			14		0	0	0.004007	0	0
C10orf71	118461	broad.mit.edu	37	10	50531128	50531128	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:50531128C>T	uc021pqb.1	+	0	538	c.538C>T	c.(538-540)Cca>Tca	p.P180S	C10orf71_uc021pqa.1_Missense_Mutation_p.P179S|C10orf71_uc021pqc.1_Missense_Mutation_p.P180S	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	180										endometrium(1)	1						CGCTCCTCTTCCAGAAAACAG	0.522000														34			13		0	0	0.013537	0	0
OR2L2	26246	broad.mit.edu	37	1	248202104	248202104	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:248202104G>A	uc001idw.3	+	0	631	c.535G>A	c.(535-537)Gat>Aat	p.D179N	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTTTTCTGTGATGTTCCAGC	0.443000														103			97		0	0	0.014410	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869717	22869717	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:22869717G>A	uc002zwe.3	-	1	491	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.R80C	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GGATATTGACGGAAGTGGCCT	0.468000														81			35		0	0	0.019004	0	0
TTC31	64427	broad.mit.edu	37	2	74717474	74717474	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:74717474C>T	uc002slt.2	+	3	359	c.336C>T	c.(334-336)tcC>tcT	p.S112S	TTC31_uc002sls.2_Silent_p.S41S|TTC31_uc002slu.2_5'UTR	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	112							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TCCGCAAGTCCTTCCTGTATC	0.602000														47			16		0	0	0.004007	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671373	31671373	+	Missense_Mutation	SNP	C	T	T	rs140887073		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:31671373C>T	uc010zue.2	+	2	385	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	124						cytoplasm|extracellular region	lipid binding										CAGTGGCTATCGCAGTGCCGA	0.592000														63			23		0	0	0.018920	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814967	54814967	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:54814967G>A	uc002lgm.3	+	0	675	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		AATAATTCATGAATTCCTGGT	0.507000														19			13		0	0	0.016723	0	0
HIPK3	10114	broad.mit.edu	37	11	33350174	33350174	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:33350174G>A	uc001mul.1	+	2	1486	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	HIPK3_uc001mum.1_Missense_Mutation_p.D406N|HIPK3_uc009yjv.1_Missense_Mutation_p.D406N|HIPK3_uc009yjw.1_Non-coding_Transcript	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	406	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CTTGGAGTATGATCAGGTAAC	0.403000														41			7		0	0	0.001984	0	0
PAK7	57144	broad.mit.edu	37	20	9546835	9546835	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:9546835G>A	uc002wnl.2	-	5	1732	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	PAK7_uc002wnk.2_Missense_Mutation_p.S396F|PAK7_uc002wnj.2_Missense_Mutation_p.S396F|PAK7_uc010gby.1_Missense_Mutation_p.S396F	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	396	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGAAGCCGTGGAGATGTACTG	0.612000														53			15		0	0	0.003163	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683807	69683807	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:69683807C>T	uc003hee.3	+	1	804	c.779C>T	c.(778-780)tCc>tTc	p.S260F	UGT2B10_uc011cam.2_Missense_Mutation_p.S176F	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	260					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGCGAAACTCCTGGAATTTT	0.388000														24			10		0	0	0.006214	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40673	40673	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrGL000218.1:40673A>G	uc011mfn.2	-	2	346	c.257T>C	c.(256-258)gTg>gCg	p.V86A	LOC100233156_uc003jah.2_Missense_Mutation_p.V86A					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		CTTGTGCCGCACGTCCTCCAG	0.667000														20			3		0	0	0.004672	0	0
ZNF284	342909	broad.mit.edu	37	19	44590395	44590395	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:44590395G>A	uc002oyg.1	+	4	980	c.764G>A	c.(763-765)gGa>gAa	p.G255E	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TTACACACAGGAGAAAAACCT	0.428000														56			15		0	0	0.020292	0	0
NLRP1	22861	broad.mit.edu	37	17	5462774	5462774	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:5462774C>T	uc002gci.3	-	3	1797	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	NLRP1_uc002gcg.1_Silent_p.E414E|NLRP1_uc002gch.4_Silent_p.E414E|NLRP1_uc002gck.3_Silent_p.E414E|NLRP1_uc002gcj.3_Silent_p.E414E|NLRP1_uc002gcl.3_Silent_p.E414E|NLRP1_uc010clh.3_Silent_p.E414E	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	414	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCCATCCTGGCTCATCTACAC	0.582000														23			17		0	0	0.004990	0	0
RFX4	5992	broad.mit.edu	37	12	107113834	107113834	+	Splice_Site	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:107113834T>C	uc001tlt.3	+	12	1400	c.1260_splice	c.e12+2	p.K420_splice	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Splice_Site_p.K411_splice|RFX4_uc001tls.3_Splice_Site_p.K420_splice|RFX4_uc001tlv.3_Splice_Site_p.K317_splice	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	411	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GTTGTGAAGGTTGGTAAACCG	0.537000														54			22		0	0	0.016522	0	0
HTRA1	5654	broad.mit.edu	37	10	124266380	124266380	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:124266380C>T	uc001lgj.2	+	3	1079	c.951C>T	c.(949-951)atC>atT	p.I317I		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	317	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGGACTACATCCAGACCGACG	0.602000														33			16		0	0	0.007413	0	0
C9orf84	158401	broad.mit.edu	37	9	114518604	114518604	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:114518604C>T	uc004bfr.3	-	6	805	c.670_splice	c.e6+1	p.D224_splice	C9orf84_uc011lwt.2_Splice_Site|C9orf84_uc004bfs.1_Splice_Site_p.D288_splice|C9orf84_uc004bfq.3_Splice_Site_p.D185_splice|C9orf84_uc010mug.3_Splice_Site_p.D170_splice	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	224										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTAATTCTCACCTCTTTCAAA	0.294000														24			6		0	0	0.001168	0	0
TARS2	80222	broad.mit.edu	37	1	150463152	150463152	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:150463152C>T	uc001euq.3	+	3	470	c.463C>T	c.(463-465)Cca>Tca	p.P155S	TARS2_uc010pcd.1_Intron|TARS2_uc001eur.3_Missense_Mutation_p.P155S|TARS2_uc009wlt.3_5'UTR|TARS2_uc009wls.3_Missense_Mutation_p.P155S	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	155					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTGCAGAGGTCCAAGTACAGA	0.493000														100			77		0	0	0.014410	0	0
TRIM23	373	broad.mit.edu	37	5	64906724	64906724	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:64906724G>A	uc003jty.3	-	4	878	c.792C>T	c.(790-792)atC>atT	p.I264I	TRIM23_uc003jtw.3_Silent_p.I264I|TRIM23_uc003jtx.3_Silent_p.I264I	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	264					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	GDP binding|GTP binding|GTPase activity|enzyme activator activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CATCTTCCACGATTTGTTCTC	0.363000														25			20		0	0	0.018920	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555154	44555154	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:44555154C>T	uc010xdb.2	-	0	1296	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	354	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CCTTCCACGTCGCCGAGGGCG	0.662000														518			19		0	0	0.021523	0	0
FPR2	2358	broad.mit.edu	37	19	52272088	52272088	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:52272088C>T	uc002pxr.3	+	1	222	c.177C>T	c.(175-177)gtC>gtT	p.V59V	FPR2_uc002pxs.4_Silent_p.V59V|FPR2_uc010epf.3_Silent_p.V59V|FPR2_uc021uyp.1_Silent_p.V59V	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	59					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CACGCACAGTCACCACCATCT	0.552000														64			34		0	0	0.019004	0	0
SEMG2	6407	broad.mit.edu	37	20	43851307	43851307	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:43851307A>C	uc010ggz.3	+	1	1091	c.1034A>C	c.(1033-1035)aAa>aCa	p.K345T	SEMG2_uc002xnk.3_Missense_Mutation_p.K345T|SEMG2_uc002xnl.3_Missense_Mutation_p.K345T	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	345	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAGGAAAATAAAATATCATAC	0.383000														28			9		0	0	0.004482	0	0
LAMA5	3911	broad.mit.edu	37	20	60901756	60901756	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:60901756G>A	uc002ycq.3	-	39	5342	c.5275C>T	c.(5275-5277)Cgt>Tgt	p.R1759C	LAMA5_uc021wfw.1_Missense_Mutation_p.R1759C	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1759	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTGCCCACGGTGAACGTGG	0.657000														34			11		0	0	0.016723	0	0
CD36	948	broad.mit.edu	37	7	80285980	80285980	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:80285980A>G	uc003uhc.3	+	6	929	c.245A>G	c.(244-246)aAc>aGc	p.N82S	CD36_uc011kgv.2_Missense_Mutation_p.N6S|CD36_uc003uhd.4_Missense_Mutation_p.N82S|CD36_uc003uhe.4_Missense_Mutation_p.N82S|CD36_uc003uhf.4_Missense_Mutation_p.N82S|CD36_uc003uhg.4_Missense_Mutation_p.N82S|CD36_uc003uhh.4_Missense_Mutation_p.N82S|CD36_uc022agu.1_Missense_Mutation_p.N82S|CD36_uc022agv.1_Missense_Mutation_p.N82S	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	82					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AACAGCAGCAACATTCAAGTT	0.388000														17			7		0	0	0.001984	0	0
HTR3D	200909	broad.mit.edu	37	3	183756207	183756207	+	Silent	SNP	C	T	T	rs139778852		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:183756207C>T	uc011bqv.2	+	6	930	c.930C>T	c.(928-930)ttC>ttT	p.F310F	HTR3D_uc003fmj.3_Silent_p.F135F|HTR3D_uc011bqu.2_Silent_p.F260F|HTR3D_uc010hxp.3_Silent_p.F89F	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	310						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTGTCTACTTCGCCCTGTGCC	0.587000														60			25		0	0	0.006320	0	0
IKZF4	64375	broad.mit.edu	37	12	56428444	56428444	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:56428444C>T	uc001sjb.1	+	8	1246	c.1087C>T	c.(1087-1089)Cac>Tac	p.H363Y	IKZF4_uc010sqa.1_Missense_Mutation_p.H316Y|IKZF4_uc001sjc.1_Missense_Mutation_p.H363Y|IKZF4_uc001sjd.1_Missense_Mutation_p.H261Y|IKZF4_uc009zoi.1_Missense_Mutation_p.H318Y|IKZF4_uc001sje.1_Missense_Mutation_p.H322Y	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	363					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGTGGCACACCACAGCCTAGA	0.562000														100			39		0	0	0.006230	0	0
CD163L1	283316	broad.mit.edu	37	12	7585262	7585262	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:7585262G>A	uc010sge.2	-	3	572	c.546C>T	c.(544-546)ttC>ttT	p.F182F	CD163L1_uc001qsy.3_Silent_p.F172F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	172	SRCR 2.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACCTTTCTTGGAATTTCACCT	0.453000														32			17		0	0	0.007413	0	0
SI	6476	broad.mit.edu	37	3	164750406	164750406	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:164750406G>A	uc003fei.3	-	23	2703	c.2640C>T	c.(2638-2640)atC>atT	p.I880I		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	880	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCAACCCAAGGATTTTTACAG	0.353000										HNSCC(35;0.089)				7			6		0	0	0.001168	0	0
ZFP42	132625	broad.mit.edu	37	4	188924723	188924723	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:188924723G>A	uc003izh.1	+	3	1170	c.762G>A	c.(760-762)aaG>aaA	p.K254K	ZFP42_uc003izi.1_Silent_p.K254K|ZFP42_uc021xvm.1_Silent_p.K254K	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	254					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGTGCGGAAAGCGCTTCTCTC	0.493000														34			11		0	0	0.010729	0	0
NRXN1	9378	broad.mit.edu	37	2	50724508	50724508	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:50724508C>T	uc021vhh.1	-	12	3763	c.2842G>A	c.(2842-2844)Gat>Aat	p.D948N	NRXN1_uc002rxb.4_Missense_Mutation_p.D620N|NRXN1_uc021vhg.1_Missense_Mutation_p.D988N|NRXN1_uc021vhi.1_Missense_Mutation_p.D984N|NRXN1_uc021vhj.1_Missense_Mutation_p.D944N|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	948	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)			TCATTTCCATCCCCACTGTTA	0.358000														26			10		0	0	0.008291	0	0
FAM154A	158297	broad.mit.edu	37	9	18928076	18928076	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:18928076G>A	uc003zni.2	-	3	1749	c.1399C>T	c.(1399-1401)Cag>Tag	p.Q467*	FAM154A_uc010mip.2_Nonsense_Mutation_p.Q275*	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	467										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AACTCCCTCTGGTTGGGGTTT	0.403000														107			37		0	0	0.007835	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634876	70634876	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:70634876G>A	uc001xly.3	-	1	1018	c.264C>T	c.(262-264)ttC>ttT	p.F88F	SLC8A3_uc001xlw.3_Silent_p.F88F|SLC8A3_uc001xlx.3_Silent_p.F88F|SLC8A3_uc001xlz.3_Silent_p.F88F|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	88					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACACCCCAAGGAACATGTATA	0.493000														20			6		0	0	0.001168	0	0
LOC649330	649330	broad.mit.edu	37	1	12907865	12907865	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:12907865C>T	uc010obf.2	-	1	504	c.278G>A	c.(277-279)gGa>gAa	p.G93E	LOC649330_uc009vno.2_Missense_Mutation_p.G93E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	93							nucleic acid binding|nucleotide binding										ACCTGCGTTTCCTCGGTTCAC	0.483000														97			13		0	0	0.003163	0	0
SLC9C1	285335	broad.mit.edu	37	3	111898498	111898498	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:111898498C>T	uc003dyu.3	-	22	3021	c.2799G>A	c.(2797-2799)aaG>aaA	p.K933K	SLC9C1_uc011bhu.2_Silent_p.K196K|SLC9C1_uc010hqc.3_Silent_p.K885K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	933					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AATCTTTCTCCTTTGACTCCA	0.348000														23			13		0	0	0.020292	0	0
PCDHB9	56127	broad.mit.edu	37	5	140566913	140566913	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:140566913C>T	uc003liw.1	+	0	21	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	7					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGGTTCAGCTTTCCAAGAC	0.473000														96			97		0	0	0.014410	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602718	96602718	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:96602718C>T	uc010qnz.2	+	6	1086	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	CYP2C19_uc010qny.2_Silent_p.I340I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	362					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCGACCTCATCCCCACCAGCC	0.537000														86			21		0	0	0.012319	0	0
FAM47A	158724	broad.mit.edu	37	X	34148746	34148746	+	Silent	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:34148746A>G	uc004ddg.3	-	0	1702	c.1650T>C	c.(1648-1650)agT>agC	p.S550S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	550										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACACCCGACGACTCTTGGGAA	0.607000														19			20		0	0	0.010504	0	0
ITIH1	3697	broad.mit.edu	37	3	52819165	52819165	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:52819165G>A	uc003dfs.3	+	11	1543	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.E363K|ITIH1_uc021wzg.1_Missense_Mutation_p.E217K|ITIH1_uc021wzh.1_Missense_Mutation_p.E217K|ITIH1_uc003dft.3_Missense_Mutation_p.E106K	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	505	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACAGTACTACGAAGGCTCAGA	0.562000														100			35		0	0	0.008740	0	0
LIG3	3980	broad.mit.edu	37	17	33316651	33316651	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:33316651C>T	uc002hik.2	+	3	987	c.858C>T	c.(856-858)atC>atT	p.I286I	LIG3_uc002hii.3_Silent_p.I286I|LIG3_uc002hij.3_Silent_p.I286I|LIG3_uc010cth.1_Silent_p.I295I	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	286					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCCAGATCATCCAGGACTTCC	0.547000								Other BER factors						105			23		0	0	0.016522	0	0
DPYD	1806	broad.mit.edu	37	1	97839184	97839184	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:97839184G>A	uc001drv.3	-	15	2128	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	664	Uracil binding (Potential).				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TAACTCCAGGGCATCTGCTCC	0.433000														24			7		0	0	0.001984	0	0
SMU1	55234	broad.mit.edu	37	9	33056197	33056197	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:33056197G>A	uc003zsf.1	-	8	1144	c.1036C>T	c.(1036-1038)Cgt>Tgt	p.R346C	SMU1_uc011lnu.1_Missense_Mutation_p.R185C	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	346						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GAATGGCCACGAAATTCCTTC	0.338000														20			10		0	0	0.008291	0	0
NMBR	4829	broad.mit.edu	37	6	142399866	142399866	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:142399866G>A	uc003qiu.3	-	1	738	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	199					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GAGGGTATGGGATACATGCTG	0.423000														22			11		0	0	0.013537	0	0
PTGER2	5732	broad.mit.edu	37	14	52781928	52781928	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:52781928A>G	uc001wzr.3	+	0	913	c.662A>G	c.(661-663)aAc>aGc	p.N221S		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	221						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GTCATTCTCAACCTCATCCGC	0.667000														33			12		0	0	0.013537	0	0
DYRK4	8798	broad.mit.edu	37	12	4705788	4705788	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:4705788C>T	uc009zeh.1	+	7	840	c.798C>T	c.(796-798)atC>atT	p.I266I	DYRK4_uc001qmx.3_Silent_p.I151I|DYRK4_uc001qmy.2_Silent_p.I151I|DYRK4_uc021qtq.1_Silent_p.I5I	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	151	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGCTGAAGATCCTGGAAGCTC	0.498000														20			10		0	0	0.008291	0	0
CSK	1445	broad.mit.edu	37	15	75094689	75094689	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:75094689C>T	uc010bkb.1	+	13	1371	c.1188C>T	c.(1186-1188)gtC>gtT	p.V396V	CSK_uc002ays.2_Silent_p.V396V|CSK_uc010bkc.1_Silent_p.V205V	NM_001127190	NP_004374	P41240	CSK_HUMAN	Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA.	396	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|blood coagulation|epidermal growth factor receptor signaling pathway	Golgi apparatus|centrosome|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						AGGACGTCGTCCCTCGGGTGG	0.652000														52			20		0	0	0.014323	0	0
AHR	196	broad.mit.edu	37	7	17379741	17379741	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:17379741T>G	uc011jxz.1	+	9	2905	c.2292T>G	c.(2290-2292)tgT>tgG	p.C764W		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	764					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CTCAGACATGTTATGCTGGGG	0.463000														40			16		0	0	0.010504	0	0
FLNC	2318	broad.mit.edu	37	7	128481572	128481572	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:128481572C>T	uc003vnz.4	+	12	2281	c.2072C>T	c.(2071-2073)aCc>aTc	p.T691I	FLNC_uc003voa.4_Missense_Mutation_p.T691I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	691					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCTGAGTTCACCATTGATGCT	0.607000														179			53		0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	90046372	90046372	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:90046372C>T	uc003kju.3	+	52	11075	c.10979C>T	c.(10978-10980)tCa>tTa	p.S3660L	GPR98_uc003kjt.3_Missense_Mutation_p.S1366L|GPR98_uc003kjv.3_Missense_Mutation_p.S1260L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3660					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCAGAATTCATTATATAAG	0.358000														60			41		0	0	0.014410	0	0
POU5F1	5460	broad.mit.edu	37	6	31133727	31133727	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:31133727C>T	uc003nsv.3	-	1	557	c.503G>A	c.(502-504)gGg>gAg	p.G168E	POU5F1_uc003nsu.3_5'UTR|POU5F1_uc021yuj.1_5'UTR|POU5F1_uc011dnf.1_5'Flank	NM_002701	NP_002692	Q01860	PO5F1_HUMAN	Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA.	168	POU-specific.				BMP signaling pathway involved in heart induction|anatomical structure morphogenesis|blastocyst development|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of SMAD protein import into nucleus|positive regulation of catenin import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						CAGGGTGAGCCCCACATCGGC	0.562000			T	EWSR1	sarcoma									16			17		0	0	0.006122	0	0
NOD1	10392	broad.mit.edu	37	7	30492619	30492619	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:30492619G>A	uc003tav.3	-	5	937	c.414C>T	c.(412-414)ggC>ggT	p.G138G	NOD1_uc010kvs.2_Silent_p.G138G	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	138					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGGAGTCACGGCCCAGATGGT	0.582000														51			22		0	0	0.016522	0	0
VANGL2	57216	broad.mit.edu	37	1	160390266	160390266	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:160390266C>T	uc001fwb.2	+	5	1165	c.866C>T	c.(865-867)gCc>gTc	p.A289V	VANGL2_uc001fwc.2_Missense_Mutation_p.A289V	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	289					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.P288S(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TACAACCCTGCCCTCCTCAAC	0.607000														89			26		0	0	0.021523	0	0
SCN1A	6323	broad.mit.edu	37	2	166870329	166870329	+	Silent	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:166870329C>A	uc002udo.4	-	19	3857	c.3630G>T	c.(3628-3630)acG>acT	p.T1210T	SCN1A_uc010fpk.3_Silent_p.T1182T|SCN1A_uc021vsb.1_Silent_p.T1199T	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1210			T -> K (in SMEI; dbSNP:rs121918738).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTCGGAAACACGTCCTTCTCA	0.398000														20			4		0.00909568	0.00928754	0.009096	1	0
UGT3A2	167127	broad.mit.edu	37	5	36039718	36039718	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:36039718G>A	uc003jjz.2	-	4	1068	c.936C>T	c.(934-936)atC>atT	p.I312I	UGT3A2_uc011cos.2_Silent_p.I278I|UGT3A2_uc011cot.2_Silent_p.I10I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	312						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTCCTTGAAGATTTCCGGAT	0.493000														55			38		0	0	0.005524	0	0
GALNTL6	442117	broad.mit.edu	37	4	173150813	173150813	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:173150813C>T	uc003isv.3	+	2	881	c.145C>T	c.(145-147)Cca>Tca	p.P49S		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	49						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ACAGACATTTCCACTGGGCCT	0.433000														33			16		0	0	0.003163	0	0
PDK3	5165	broad.mit.edu	37	X	24521544	24521544	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:24521544C>T	uc004dbg.3	+	3	650	c.421C>T	c.(421-423)Cct>Tct	p.P141S	PDK3_uc004dbh.3_Missense_Mutation_p.P141S	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	141	Histidine kinase.				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	p.D140H(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGGTTTGATCCTTTCATTAG	0.378000														16			15		0	0	0.004007	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856333	62856333	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:62856333G>A	uc002jey.2	-	10	4547	c.3931C>T	c.(3931-3933)Cgc>Tgc	p.R1311C	LRRC37A3_uc010wqg.1_Missense_Mutation_p.R429C|LRRC37A3_uc002jex.1_Missense_Mutation_p.R288C|LRRC37A3_uc010wqf.1_Missense_Mutation_p.R349C|LRRC37A3_uc010dek.1_Missense_Mutation_p.R317C|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1311						integral to membrane		p.T1310S(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATGCGGGAGCGAGTTTTGTGA	0.413000														151			230		0	0	0.014410	0	0
VRTN	55237	broad.mit.edu	37	14	74824603	74824603	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:74824603G>A	uc021rwl.1	+	0	1117	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	VRTN_uc001xpw.4_Missense_Mutation_p.E373K	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	373					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGGCATGGAGGAGCTAGAGAA	0.647000														32			13		0	0	0.016723	0	0
PELI1	57162	broad.mit.edu	37	2	64323416	64323416	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:64323416C>T	uc002scs.4	-	4	4572	c.533G>A	c.(532-534)gGa>gAa	p.G178E	PELI1_uc002sct.4_Missense_Mutation_p.G178E|PELI1_uc002scr.4_5'UTR	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	178					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						ATCCATCTGTCCATCTGATGT	0.428000														45			9		0	0	0.008291	0	0
COL16A1	1307	broad.mit.edu	37	1	32157113	32157113	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:32157113C>T	uc001btk.1	-	19	1668	c.1303_splice	c.e19-1	p.G435_splice	COL16A1_uc001btj.1_Splice_Site_p.G264_splice|COL16A1_uc001btl.4_Splice_Site_p.G435_splice	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	435	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCAGGGTCTCCCTGGCACAGA	0.662000														37			8		0	0	0.004482	0	0
KCNAB2	8514	broad.mit.edu	37	1	6158556	6158556	+	Silent	SNP	A	G	G	rs148138812	byFrequency	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:6158556A>G	uc009vlv.2	+	15	1569	c.1026A>G	c.(1024-1026)aaA>aaG	p.K342K	KCNAB2_uc001alv.2_Silent_p.K342K|KCNAB2_uc001alw.2_Silent_p.K328K|KCNAB2_uc001alx.2_Silent_p.K342K|KCNAB2_uc001aly.2_Silent_p.K390K|KCNAB2_uc009vlw.2_Silent_p.K275K|KCNAB2_uc001alu.3_3'UTR	NM_001199861	NP_001186790	Q13303	KCAB2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 4, mRNA.	342						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTTCCGAAACTGTCATCTT	0.537000														35			9		0	0	0.008291	0	0
PWP2	5822	broad.mit.edu	37	21	45535744	45535744	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:45535744A>G	uc002zeb.3	+	6	869	c.779A>G	c.(778-780)aAa>aGa	p.K260R		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	260						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ATCCGGGGAAAAGCCACTCCG	0.627000														11			6		0	0	0.001168	0	0
NPSR1	387129	broad.mit.edu	37	7	34888189	34888189	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:34888189G>A	uc003teh.1	+	7	1067	c.939G>A	c.(937-939)gtG>gtA	p.V313V	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.V313V|NPSR1_uc010kwt.1_Silent_p.V160V|NPSR1_uc010kwu.1_Silent_p.V103V|NPSR1_uc010kwv.1_Silent_p.V247V|NPSR1_uc003tei.1_Silent_p.V313V|NPSR1_uc010kww.1_Silent_p.V302V|NPSR1_uc011kar.1_Silent_p.V247V	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	313						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ATGCCTCTGTGATCATTCAGA	0.502000														143			58		0	0	0.014410	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377550	125377550	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:125377550C>T	uc011lyy.2	+	0	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CCCACTTCTTCTGTGACCTCT	0.493000														40			20		0	0	0.014323	0	0
TRPM8	79054	broad.mit.edu	37	2	234858746	234858746	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:234858746G>A	uc002vvh.3	+	8	1136	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	TRPM8_uc010fyj.3_Missense_Mutation_p.V54M	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	366						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ACCCCGCACGGTGTCCCGGCT	0.557000														20			8		0	0	0.003080	0	0
IL9R	3581	broad.mit.edu	37	X	155239703	155239703	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:155239703G>A	uc004fnv.1	+	8	1374	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	IL9R_uc004fnu.1_3'UTR	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	399					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGGTGTACGGAGTGGAGGGT	0.652000														25			11		0	0	0.003163	0	0
QSER1	79832	broad.mit.edu	37	11	32955554	32955554	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:32955554C>T	uc001mty.3	+	3	2630	c.2363C>T	c.(2362-2364)cCt>cTt	p.P788L	QSER1_uc001mtz.1_Missense_Mutation_p.P549L|QSER1_uc001mua.3_Missense_Mutation_p.P293L	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	788	Gln-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)					CAACTCCATCCTCAAAATTCT	0.388000														22			9		0	0	0.006214	0	0
OSBPL6	114880	broad.mit.edu	37	2	179238741	179238741	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:179238741C>T	uc002uly.3	+	15	2139	c.1595C>T	c.(1594-1596)tCg>tTg	p.S532L	OSBPL6_uc002ulw.3_Missense_Mutation_p.S440L|OSBPL6_uc002ulx.3_Missense_Mutation_p.S507L|OSBPL6_uc010zfe.2_Missense_Mutation_p.S476L|OSBPL6_uc002ulz.3_Missense_Mutation_p.S471L|OSBPL6_uc002uma.3_Missense_Mutation_p.S511L	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	507					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCTGCAAGTTCGTCAGAGAAT	0.458000														77			23		0	0	0.004656	0	0
GRIK1	2897	broad.mit.edu	37	21	31062114	31062114	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:31062114C>T	uc002yno.1	-	2	942	c.478G>A	c.(478-480)Gcg>Acg	p.A160T	GRIK1_uc002ynn.3_Missense_Mutation_p.A160T|GRIK1_uc011acs.2_Missense_Mutation_p.A160T|GRIK1_uc011act.2_Missense_Mutation_p.A104T|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.3_Missense_Mutation_p.A160T	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	160					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCCAGGATCGCCCTGCTGATA	0.488000														66			36		0	0	0.019004	0	0
WRNIP1	56897	broad.mit.edu	37	6	2784557	2784557	+	Splice_Site	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:2784557G>T	uc003mtz.3	+	6	1834	c.1643_splice	c.e6-1	p.G548_splice	WRNIP1_uc003mua.3_Splice_Site_p.G523_splice	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	548					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GTGTGTGGCAGGTCTGGCAGA	0.507000														19			13		1.15088e-07	1.19192e-07	0.004007	1	0
B3GNT2	10678	broad.mit.edu	37	2	62450312	62450312	+	Silent	SNP	G	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:62450312G>C	uc021vii.1	+	0	957	c.957G>C	c.(955-957)ctG>ctC	p.L319L	B3GNT2_uc002sbs.3_Silent_p.L319L	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA.	319						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			CCCTGAGGCTGTACCATATCA	0.532000														57			27		0	0	0.006320	0	0
DHX36	170506	broad.mit.edu	37	3	153998449	153998449	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:153998449T>A	uc003ezy.4	-	21	2567	c.2486A>T	c.(2485-2487)aAg>aTg	p.K829M	DHX36_uc010hvq.3_Missense_Mutation_p.K815M|DHX36_uc003ezz.4_Missense_Mutation_p.K800M	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	829						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTAATTATCTTCTCATTATC	0.323000														78			24		0	0	0.004656	0	0
BTBD9	114781	broad.mit.edu	37	6	38142888	38142888	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:38142888G>A	uc003ooa.4	-	11	2288	c.1712C>T	c.(1711-1713)tCg>tTg	p.S571L	BTBD9_uc010jwv.3_Missense_Mutation_p.S541L|BTBD9_uc003ony.4_Missense_Mutation_p.S503L|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.S571L	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	571					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CCCTGTCCCCGATTCCTCACT	0.597000														85			20		0	0	0.010504	0	0
TMEM117	84216	broad.mit.edu	37	12	44782223	44782223	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:44782223C>T	uc001rod.3	+	7	1379	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	TMEM117_uc001roe.3_Missense_Mutation_p.S334F|TMEM117_uc009zkc.3_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	438						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AAAAGAAAATCTCCATCAGAA	0.413000														18			4		0	0	0.009096	0	0
C15orf55	256646	broad.mit.edu	37	15	34648236	34648236	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:34648236G>A	uc010ucc.2	+	7	2409	c.2027G>A	c.(2026-2028)gGa>gAa	p.G676E	C15orf55_uc010ucd.2_Missense_Mutation_p.G666E|C15orf55_uc001zif.3_Missense_Mutation_p.G648E	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	648						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CCTCTGCAAGGACAAGGGTTA	0.562000			T	"""BRD3, BRD4"""	lethal midline carcinoma									46			16		0	0	0.004990	0	0
IRS4	8471	broad.mit.edu	37	X	107976623	107976623	+	Silent	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:107976623A>G	uc004eoc.2	-	0	2985	c.2952T>C	c.(2950-2952)cgT>cgC	p.R984R		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	984						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|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						AGGGGTTGGCACGTGGTATAG	0.478000														29			34		0	0	0.013726	0	0
NFKBID	84807	broad.mit.edu	37	19	36381329	36381329	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:36381329G>A	uc002oci.1	-	9	1244	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	NFKBID_uc002och.1_Nonsense_Mutation_p.Q61*	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta (NFKBID), mRNA.	224					inflammatory response	nucleus		p.Q224*(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						AGCAGCAGCTGAACCAGAGTG	0.612000														62			30		0	0	0.015359	0	0
CCDC27	148870	broad.mit.edu	37	1	3669103	3669103	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:3669103G>A	uc001akv.2	+	0	139	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	20										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGATCCACGGGAAAAGCCGGG	0.572000														24			21		0	0	0.018920	0	0
OR13J1	392309	broad.mit.edu	37	9	35869662	35869662	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:35869662G>A	uc011lph.2	-	0	737	c.737C>T	c.(736-738)gCt>gTt	p.A246V		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily J, member 1 (OR13J1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCACTACAGCCAGGTGTGC	0.552000														37			12		0	0	0.010729	0	0
USP33	23032	broad.mit.edu	37	1	78177436	78177436	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:78177436A>T	uc001dht.3	-	21	2842	c.2495T>A	c.(2494-2496)aTt>aAt	p.I832N	USP33_uc001dhs.3_Missense_Mutation_p.I553N|USP33_uc001dhu.3_Missense_Mutation_p.I801N|USP33_uc001dhv.3_Missense_Mutation_p.I637N|USP33_uc001dhw.3_Missense_Mutation_p.I824N	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	832	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTTTACCCGAATAAAAATTTC	0.323000														46			12		0	0	0.016723	0	0
SUSD4	55061	broad.mit.edu	37	1	223441998	223441998	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:223441998G>A	uc001hnx.3	-	2	1015	c.381C>T	c.(379-381)atC>atT	p.I127I	SUSD4_uc001hny.4_Silent_p.I127I|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.I127I|SUSD4_uc010pux.1_Silent_p.I56I	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	127	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CAGCATCTTCGATTTGAGGGA	0.383000														86			26		0	0	0.008361	0	0
EIF5A	1984	broad.mit.edu	37	17	7212975	7212975	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:7212975C>T	uc010vtv.2	+	1	258	c.21C>T	c.(19-21)ttC>ttT	p.F7F	EIF5A_uc002gfr.3_Silent_p.F37F|EIF5A_uc010vtu.1_5'UTR|EIF5A_uc002gft.3_Silent_p.F7F|EIF5A_uc002gfu.3_Silent_p.F7F	NM_001970	NP_001961	P63241	IF5A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A (EIF5A), transcript variant B, mRNA.	7					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	U6 snRNA binding|protein N-terminus binding|ribosome binding|translation elongation factor activity			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						ACTTGGACTTCGAGACAGGAG	0.498000														90			35		0	0	0.017118	0	0
TRA	0	broad.mit.edu	37	14	22192510	22192510	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:22192510G>A	uc021rpa.1	+	1	413	c.285G>A	c.(283-285)ctG>ctA	p.L95L	TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																		CCTTCCACCTGAAGAAACCAT	0.493000														32			27		0	0	0.021523	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79069868	79069868	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:79069868A>C	uc002bej.4	-	8	1596	c.1385T>G	c.(1384-1386)gTg>gGg	p.V462G	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.V462G	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	462	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCCAGGTGGCACCGAGGGGAA	0.642000														11			4		0	0	0.009096	0	0
POLD2	5425	broad.mit.edu	37	7	44156480	44156480	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:44156480G>A	uc010kxz.3	-	6	1366	c.716C>T	c.(715-717)tCc>tTc	p.S239F	POLD2_uc010kya.3_Missense_Mutation_p.S239F|POLD2_uc003tkf.4_Missense_Mutation_p.S239F	NM_006230	NP_006221	P49005	DPOD2_HUMAN	Homo sapiens polymerase (DNA directed), delta 2, regulatory subunit 50kDa (POLD2), transcript variant 2, mRNA.	239					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GATAACCCGGGAGACGTGGGC	0.657000														22			14		0	0	0.003163	0	0
THRB	7068	broad.mit.edu	37	3	24169111	24169111	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:24169111C>T	uc003ccz.4	-	10	1543	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	THRB_uc010hfe.3_Silent_p.L341L|THRB_uc003ccy.4_Silent_p.L341L|THRB_uc003ccx.4_Silent_p.L341L	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	341	Interaction with NR2F6.|Ligand-binding.		L -> P (in GTHR).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCCATTTTTCAGCTGGCCCC	0.537000														73			12		0	0	0.003163	0	0
CCBL1	883	broad.mit.edu	37	9	131600580	131600580	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:131600580G>A	uc004bwh.3	-	3	453	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	CCBL1_uc004bwg.3_Intron|CCBL1_uc010myn.3_Missense_Mutation_p.P90S|CCBL1_uc004bwj.3_Intron|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Missense_Mutation_p.P184S	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	90					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TTCCTGAGCGGGTCTATCTCC	0.582000														35			12		0	0	0.013537	0	0
OR52N2	390077	broad.mit.edu	37	11	5842474	5842474	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:5842474G>A	uc010qzp.2	+	0	909	c.909G>A	c.(907-909)caG>caA	p.Q303Q	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAGATTCAGGAAGGTGTAA	0.373000														40			10		0	0	0.006214	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21883634	21883634	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:21883634G>C	uc002kve.3	-	13	1358	c.1141C>G	c.(1141-1143)Ctc>Gtc	p.L381V	OSBPL1A_uc010xbc.2_5'UTR|OSBPL1A_uc002kvf.3_Missense_Mutation_p.L161V	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	381					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATCATTTTGAGAAAGTTGGAA	0.333000														98			26		0	0	0.013726	0	0
FGF10	2255	broad.mit.edu	37	5	44305142	44305142	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:44305142C>T	uc003jog.1	-	2	582	c.582G>A	c.(580-582)agG>agA	p.R194R		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	194					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGGTGTTTTTCCTTCGTGTTT	0.438000														50			10		0	0	0.006214	0	0
TNC	3371	broad.mit.edu	37	9	117800600	117800600	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:117800600T>C	uc004bjj.4	-	19	5864	c.5452A>G	c.(5452-5454)Agg>Ggg	p.R1818G	TNC_uc010mvf.3_Missense_Mutation_p.R1545G|TNC_uc022bmj.1_Missense_Mutation_p.R1455G	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1818	Fibronectin type-III 14.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGCTGCCACCTGGCCAAGGCT	0.532000														47			13		0	0	0.020292	0	0
CAMKK2	10645	broad.mit.edu	37	12	121712110	121712110	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:121712110G>A	uc001tzv.3	-	1	1049	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	CAMKK2_uc001tzt.3_Silent_p.L74L|CAMKK2_uc001tzu.3_Silent_p.L74L|CAMKK2_uc001tzw.3_Silent_p.L74L|CAMKK2_uc001tzx.3_Silent_p.L74L|CAMKK2_uc001tzy.3_Silent_p.L74L|CAMKK2_uc001uaa.1_Silent_p.L74L|CAMKK2_uc001uab.3_Silent_p.L74L|CAMKK2_uc001uac.3_Silent_p.L74L|CAMKK2_uc001uad.2_Silent_p.L74L	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	74					MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGGCCTCCAGGGGCCGGTCC	0.677000														177			74		0	0	0.014410	0	0
GPR128	84873	broad.mit.edu	37	3	100352130	100352130	+	Missense_Mutation	SNP	G	A	A	rs143646459		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:100352130G>A	uc003duc.3	+	3	624	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	GPR128_uc011bhc.2_5'Flank	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	119					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATGGCAGTCCGGTTGTGCAGT	0.313000														48			8		0	0	0.004482	0	0
USP19	10869	broad.mit.edu	37	3	49156456	49156456	+	Splice_Site	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:49156456T>C	uc003cwd.2	-	2	443	c.124_splice	c.e2+1	p.E42_splice	USP19_uc003cwa.3_5'Flank|USP19_uc003cwb.3_Splice_Site_p.E42_splice|USP19_uc003cvz.4_Splice_Site_p.E42_splice|USP19_uc011bcg.2_Splice_Site_p.E42_splice|USP19_uc003cwc.2_5'Flank|USP19_uc011bch.2_Splice_Site_p.E42_splice|USP19_uc011bci.2_Splice_Site_p.E42_splice	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	42					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACTCCCACCTTTCCTAGGAT	0.517000														108			26		0	0	0.008361	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448676	142448676	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:142448676C>T	uc011ksl.1	+	1	301	c.270C>T	c.(268-270)ttC>ttT	p.F90F	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|TRBV29-1_uc022anu.1_Silent_p.F86F					SubName: Full=V_segment translation product; Flags: Fragment;																		ACCTAACATTCTCAACTCTGA	0.498000														8			5		0	0	0.001168	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484436	60484436	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:60484436C>T	uc010wpc.2	+	9	957	c.886C>T	c.(886-888)Cca>Tca	p.P296S	EFCAB3_uc002izu.2_Missense_Mutation_p.P244S	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	244							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			ACCCATCTTTCCATTGTTCCC	0.368000														33			38		0	0	0.010771	0	0
UNC13B	10497	broad.mit.edu	37	9	35376085	35376085	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:35376085C>T	uc003zwr.3	+	13	1721	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S	UNC13B_uc003zwq.3_Missense_Mutation_p.P477S	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	477					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTGCACCACTCCTCATAACTT	0.517000														90			45		0	0	0.014410	0	0
PCNXL2	80003	broad.mit.edu	37	1	233386576	233386576	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:233386576C>T	uc001hvl.2	-	7	2366	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Missense_Mutation_p.E10K	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	711						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATCTAATTTCCCCTGTAAAA	0.323000														8			3		0	0	0.004672	0	0
OR8D2	283160	broad.mit.edu	37	11	124189829	124189829	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:124189829C>T	uc010sah.2	-	0	265	c.265G>A	c.(265-267)Gag>Aag	p.E89K		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ATAATGTTCTCCTCTGGAACA	0.393000														2			4		0	0	0.014758	0	0
COL1A1	1277	broad.mit.edu	37	17	48266550	48266550	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:48266550G>A	uc002iqm.3	-	39	3042	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	972	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GAAGACCAGGGAAGCCTCTCT	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							25			18		0	0	0.006122	0	0
PLCH2	9651	broad.mit.edu	37	1	2418730	2418730	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:2418730C>T	uc001aji.1	+	6	1300	c.1026C>T	c.(1024-1026)acC>acT	p.T342T	PLCH2_uc010nyz.2_Silent_p.T131T|PLCH2_uc009vle.1_Silent_p.T131T|PLCH2_uc001ajj.1_Silent_p.T131T|PLCH2_uc001ajk.1_Silent_p.T131T	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	343	PI-PLC X-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)		CCCACAACACCTACCTCGTGG	0.612000														16			8		0	0	0.008291	0	0
NARG2	79664	broad.mit.edu	37	15	60715915	60715915	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:60715915G>A	uc002agp.3	-	15	3102	c.2867C>T	c.(2866-2868)tCc>tTc	p.S956F	NARG2_uc002ago.3_Missense_Mutation_p.S819F	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	956						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GGTTTCCATGGAAACTGGATT	0.418000														14			8		0	0	0.003080	0	0
SMYD1	150572	broad.mit.edu	37	2	88409921	88409921	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:88409921G>A	uc002ssr.3	+	9	1448	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Missense_Mutation_p.E151K	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CCGCCAGAACGAATTCATGTA	0.567000														12			5		0	0	0.014758	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188600	140188600	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:140188600G>A	uc003lhi.2	+	0	1929	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E610K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E610K	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	623	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTCGTACGAGCTGCAGCC	0.672000														64			65		0	0	0.014410	0	0
DYRK4	8798	broad.mit.edu	37	12	4708873	4708873	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:4708873G>A	uc009zeh.1	+	10	1087	c.1045_splice	c.e10-1	p.E349_splice	DYRK4_uc001qmx.3_Splice_Site_p.E234_splice|DYRK4_uc001qmy.2_Splice_Site_p.E234_splice|DYRK4_uc021qtq.1_Splice_Site_p.E88_splice	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	234	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTCTCTCTAGGAAAATATAGT	0.448000														55			16		0	0	0.004990	0	0
ODZ1	10178	broad.mit.edu	37	X	123518401	123518401	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:123518401G>A	uc010nqy.3	-	29	6444	c.6380C>T	c.(6379-6381)gCc>gTc	p.A2127V	ODZ1_uc011muj.2_Missense_Mutation_p.A2126V|ODZ1_uc004euj.3_Missense_Mutation_p.A2120V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2120					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.T2126S(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CATCCAGTAGGCAATTGCCTT	0.378000														6			14		0	0	0.020292	0	0
TAF5L	27097	broad.mit.edu	37	1	229730512	229730512	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:229730512G>A	uc001htq.3	-	4	1468	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F		NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	434					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				AATTAGGGTGGAATTTGACAC	0.592000														141			23		0	0	0.021523	0	0
CCM2	83605	broad.mit.edu	37	7	45104202	45104202	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:45104202C>T	uc003tms.3	+	3	563	c.492C>T	c.(490-492)tcC>tcT	p.S164S	CCM2_uc003tmn.3_Non-coding_Transcript|CCM2_uc003tmo.3_Silent_p.S143S|CCM2_uc003tmp.3_Silent_p.S85S|CCM2_uc003tmr.3_Silent_p.S143S|CCM2_uc011kcb.2_Silent_p.S106S|CCM2_uc011kcc.2_Silent_p.S136S	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	143	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCGCCGTCTCCTATGTTCGGG	0.572000														30			8		0	0	0.006214	0	0
GPR98	84059	broad.mit.edu	37	5	90074267	90074268	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:90074267_90074268GG>AA	uc003kju.3	+	62	12786_12787	c.12690_12691GG>AA	c.(12688-12693)gaggaa>gaAAaa	p.E4231K	GPR98_uc003kjt.3_Missense_Mutation_p.E1937K|GPR98_uc003kjw.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4231	Calx-beta 28.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATTCCCGAGGAAAAAAGCTT	0.441000														10			7		0	0	0.004672	0	0
EXTL3	2137	broad.mit.edu	37	8	28608236	28608236	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:28608236C>T	uc003xgz.1	+	6	3206	c.2613C>T	c.(2611-2613)tcC>tcT	p.S871S		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	871						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.S871F(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ATGATGACTCCCACTTCCACG	0.567000														43			29		0	0	0.010818	0	0
TTN	7273	broad.mit.edu	37	2	179586805	179586805	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:179586805C>T	uc021vsy.1	-	74	19078	c.18853G>A	c.(18853-18855)Gga>Aga	p.G6285R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2946R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7212	Ig-like 44.						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)			GCACTTTCTCCAGCAATAACA	0.403000														43			13		0	0	0.003163	0	0
SCTR	6344	broad.mit.edu	37	2	120206320	120206320	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:120206320G>A	uc002tma.3	-	9	1184	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	SCTR_uc002tlz.3_Silent_p.L142L	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	320					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TTTCTCATCAGGATTCTTAGA	0.433000														19			6		0	0	0.001168	0	0
LRRC31	79782	broad.mit.edu	37	3	169579543	169579543	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:169579543G>A	uc003fgc.1	-	1	299	c.234C>T	c.(232-234)ttC>ttT	p.F78F	LRRC31_uc010hwp.1_Silent_p.F78F	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	78										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GCTTCTGCAGGAAATGCTCAT	0.403000														73			40		0	0	0.006999	0	0
CCDC88C	440193	broad.mit.edu	37	14	91770241	91770241	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:91770241C>T	uc010aty.3	-	19	3593	c.3439G>A	c.(3439-3441)Gag>Aag	p.E1147K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1147					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule 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)				TTCTCCGTCTCCTTGGCCGTG	0.652000														58			21		0	0	0.016522	0	0
LPAR1	1902	broad.mit.edu	37	9	113704152	113704153	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:113704152_113704153CC>TT	uc011lwo.2	-	1	346_347	c.344_345GG>AA	c.(343-345)cgg>cAA	p.R115Q	LPAR1_uc004bfa.3_Missense_Mutation_p.R114Q|LPAR1_uc011lwm.2_Missense_Mutation_p.R115Q|LPAR1_uc004bfc.3_Missense_Mutation_p.R114Q|LPAR1_uc011lwn.2_Missense_Mutation_p.R96Q|LPAR1_uc004bfb.3_Missense_Mutation_p.R114Q|LPAR1_uc010mub.3_Missense_Mutation_p.R114Q	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	114					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAGTCAGTCTCCGAGTATTGGG	0.490000														83			22		0	0	0.004672	0	0
CDH22	64405	broad.mit.edu	37	20	44806637	44806637	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:44806637G>A	uc002xrm.2	-	9	2262	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	CDH22_uc010ghk.1_Silent_p.S621S	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	621					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A620A(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGGGGCTGAGGGAGGCGGCCA	0.647000														27			7		0	0	0.004482	0	0
TPX2	22974	broad.mit.edu	37	20	30381722	30381722	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:30381722C>T	uc002wwp.1	+	13	2279	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	TPX2_uc010gdv.1_Silent_p.I563I	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	527					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AGCCCCAAATCCCAGAGGCAA	0.418000														128			46		0	0	0.014410	0	0
KIF2B	84643	broad.mit.edu	37	17	51900694	51900695	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:51900694_51900695GG>AA	uc002iua.2	+	0	456_457	c.300_301GG>AA	c.(298-303)ctggcg>ctAAcg	p.A101T	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	101					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTTGGCTCTGGCGCCCTCTTC	0.594000														131			83		0	0	0.004672	0	0
FAM20A	54757	broad.mit.edu	37	17	66538260	66538260	+	Silent	SNP	C	T	T	rs150508189	byFrequency	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:66538260C>T	uc002jho.3	-	6	1263	c.975G>A	c.(973-975)acG>acA	p.T325T	FAM20A_uc010wqp.2_Silent_p.T187T|FAM20A_uc002jhn.3_Missense_Mutation_p.R28Q	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	325						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CAGCATACTCCGTCTTGCACA	0.607000														35			30		0	0	0.009535	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203175	140203175	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:140203175G>A	uc003lhl.2	+	0	1815	c.1815G>A	c.(1813-1815)tgG>tgA	p.W605*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Nonsense_Mutation_p.W605*|PCDHAC2_uc003lhj.1_Nonsense_Mutation_p.W605*	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	619	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T605T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCTTGGCTTTCGTATG	0.662000														100			33		0	0	0.012213	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77493062	77493062	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:77493062G>A	uc001xsy.3	-	0	1973	c.1074C>T	c.(1072-1074)agC>agT	p.S358S		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein-like (IRF2BPL), mRNA.	358						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GCAGGCTCTCGCTCAGCTCGG	0.682000														25			9		0	0	0.008291	0	0
SENP6	26054	broad.mit.edu	37	6	76412391	76412391	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:76412391C>T	uc003pid.4	+	18	2938	c.2319C>T	c.(2317-2319)ttC>ttT	p.F773F	SENP6_uc003pie.4_Silent_p.F766F|SENP6_uc010kbf.3_Intron	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	773	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTGTTTGTTTCCCCGGTTTGG	0.318000														17			9		0	0	0.008291	0	0
NEDD9	4739	broad.mit.edu	37	6	11191368	11191368	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:11191368G>A	uc003mzv.2	-	4	901	c.734C>T	c.(733-735)cCt>cTt	p.P245L	NEDD9_uc010joz.2_Missense_Mutation_p.P245L|NEDD9_uc003mzw.3_Missense_Mutation_p.P99L	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	245					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TCTCATGGGAGGGGGGAAGTC	0.527000														52			34		0	0	0.013726	0	0
DSG4	147409	broad.mit.edu	37	18	28993144	28993144	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:28993144G>A	uc002kwr.2	+	14	2901	c.2766G>A	c.(2764-2766)ggG>ggA	p.G922G	DSG4_uc002kwq.2_Silent_p.G903G	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	903					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGTCCATGGGGATATTATTG	0.428000														97			31		0	0	0.013726	0	0
APOB	338	broad.mit.edu	37	2	21228841	21228841	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:21228841C>T	uc002red.3	-	25	11027	c.10899G>A	c.(10897-10899)tgG>tgA	p.W3633*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3633					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTCATTTTTCCATCTGATCT	0.483000														164			74		0	0	0.014410	0	0
OR4M1	441670	broad.mit.edu	37	14	20249248	20249248	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:20249248C>T	uc010tku.2	+	0	767	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGGGCCATCCATCTACATT	0.423000														93			15		0	0	0.003163	0	0
MLL2	8085	broad.mit.edu	37	12	49444009	49444009	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:49444009T>G	uc001rta.4	-	10	3362	c.3362A>C	c.(3361-3363)gAc>gCc	p.D1121A		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1121	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGGGGCTGTGTCTTCCCCTAG	0.632000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				17			5		0	0	0.014758	0	0
ANK3	288	broad.mit.edu	37	10	61819137	61819137	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:61819137C>T	uc001jky.3	-	40	12985	c.12647G>A	c.(12646-12648)cGa>cAa	p.R4216Q	ANK3_uc001jkw.3_Missense_Mutation_p.R840Q|ANK3_uc009xpa.3_Missense_Mutation_p.R840Q|ANK3_uc001jkx.3_Missense_Mutation_p.R884Q|ANK3_uc010qih.2_Missense_Mutation_p.R1707Q|ANK3_uc001jkz.4_Missense_Mutation_p.R1700Q|ANK3_uc001jkv.3_Missense_Mutation_p.R239Q	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4216					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGTTACTCTTCGAGCTTGAGC	0.408000														65			24		0	0	0.006320	0	0
SLC25A21	89874	broad.mit.edu	37	14	37203758	37203758	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:37203758C>T	uc001wtz.2	-	3	534	c.224G>A	c.(223-225)gGa>gAa	p.G75E	SLC25A21_uc021rsf.1_Missense_Mutation_p.G75E	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	75					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGGCAGAATTCCCTTGTAAAA	0.388000														17			5		0	0	0.001168	0	0
KIAA0913	23053	broad.mit.edu	37	10	75551178	75551178	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:75551178C>T	uc001jvj.3	+	8	1495	c.1240C>T	c.(1240-1242)Cat>Tat	p.H414Y	KIAA0913_uc001jve.3_Missense_Mutation_p.H414Y|KIAA0913_uc009xrl.3_Missense_Mutation_p.H414Y|KIAA0913_uc001jvf.3_Missense_Mutation_p.H414Y|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_5'Flank|KIAA0913_uc010qkr.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	414							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					GGTGGCAGCCCATGCCTGTGC	0.627000														34			18		0	0	0.004990	0	0
ZFP90	146198	broad.mit.edu	37	16	68598164	68598164	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:68598164C>T	uc010cff.3	+	4	1766	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.P492S|ZFP90_uc002ewe.3_Missense_Mutation_p.P492S	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	492					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TATTTCTCATCCTGGAGAGAA	0.408000														28			14		0	0	0.020292	0	0
TPO	7173	broad.mit.edu	37	2	1480864	1480864	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:1480864G>A	uc002qwr.3	+	7	912	c.826G>A	c.(826-828)Gag>Aag	p.E276K	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.E276K|TPO_uc002qwx.3_Missense_Mutation_p.E276K|TPO_uc002qwu.3_Missense_Mutation_p.E276K|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Missense_Mutation_p.E276K	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	276					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCAGCTCCCGGAGGAGGCCCG	0.706000														25			6		0	0	0.001984	0	0
SPTBN5	51332	broad.mit.edu	37	15	42159820	42159820	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:42159820G>A	uc001zos.3	-	34	6456	c.6123C>T	c.(6121-6123)gcC>gcT	p.A2041A	MIR4310_uc021sjo.1_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2076					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCTCCCCAAGGCACTGGTTT	0.577000														137			48		0	0	0.014410	0	0
ZNF620	253639	broad.mit.edu	37	3	40558019	40558019	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:40558019G>A	uc003ckk.3	+	4	1083	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	ZNF620_uc003ckl.3_Missense_Mutation_p.E198K	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	Homo sapiens zinc finger protein 620 (ZNF620), transcript variant 1, mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGAATGTAACGAATGTTGGAA	0.473000														47			19		0	0	0.007413	0	0
LINC00303	284573	broad.mit.edu	37	1	204009447	204009447	+	RNA	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:204009447G>A	uc001haj.2	-	1		c.249C>T			LINC00303_uc001hak.2_Non-coding_Transcript|LINC00303_uc010pqo.1_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 303 (LINC00303), non-coding RNA.																		AGACTGTAGGGGTGAGTTGAT	0.443000														17			4		0	0	0.009096	0	0
IMPG1	3617	broad.mit.edu	37	6	76751689	76751689	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:76751689G>A	uc003pik.1	-	1	352	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	74					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCCCCGTTGGGAAAAATGCGG	0.368000														23			13		0	0	0.016723	0	0
RERG	85004	broad.mit.edu	37	12	15262429	15262429	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:15262429C>T	uc001rcs.3	-	3	355	c.215G>A	c.(214-216)gGg>gAg	p.G72E	RERG_uc001rct.3_Missense_Mutation_p.G72E|RERG_uc010shu.2_Missense_Mutation_p.G53E	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	72					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding	p.E71D(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TCGCATGTGCCCCTCCCTCTG	0.458000														312			96		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9062258	9062259	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:9062258_9062259GG>AA	uc002mkp.3	-	2	25391_25392	c.25187_25188CC>TT	c.(25186-25188)tcc>tTT	p.S8396F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8398	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCAGAAGTGGATATGGAAAC	0.485000														22			27		0	0	0.004672	0	0
CDC20B	166979	broad.mit.edu	37	5	54416372	54416372	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:54416372C>T	uc003jpo.2	-	9	1399	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	CDC20B_uc003jpn.2_Missense_Mutation_p.D408N|CDC20B_uc010ivu.2_Intron	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	408										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GGACACCAATCCATGGCCTTT	0.488000														96			25		0	0	0.006320	0	0
VRTN	55237	broad.mit.edu	37	14	74825172	74825172	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:74825172C>T	uc021rwl.1	+	0	1686	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V	VRTN_uc001xpw.4_Silent_p.V562V	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	562					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGGTGCCGGTCCCCACCTTGG	0.632000														58			24		0	0	0.018920	0	0
SMAD9	4093	broad.mit.edu	37	13	37427614	37427614	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:37427614C>T	uc001uvw.3	-	5	1545	c.1202G>A	c.(1201-1203)gGc>gAc	p.G401D	SMAD9_uc001uvx.3_Missense_Mutation_p.G364D|SMAD9_uc010tep.2_Missense_Mutation_p.G194D	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	401	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GACTTCAAAGCCGTGGTGAAC	0.493000														23			16		0	0	0.004007	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170436	72170436	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:72170436C>T	uc002fcc.4	-	8	1286	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	PMFBP1_uc002fcd.3_Missense_Mutation_p.D372N|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.D227N	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	372										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATGTCCTTATCCTTCCTCTCA	0.552000														82			19		0	0	0.008871	0	0
PTPRH	5794	broad.mit.edu	37	19	55711784	55711784	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:55711784G>A	uc002qjq.3	-	6	1313	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	PTPRH_uc010esv.3_Missense_Mutation_p.P236S|PTPRH_uc002qjs.2_Missense_Mutation_p.P421S	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	414	Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TAGTCCTGAGGGTATGGGCCA	0.547000														63			33		0	0	0.015359	0	0
CDK11B	984	broad.mit.edu	37	1	1573193	1573193	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:1573193G>A	uc001agv.1	-	13	1472	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	CDK11B_uc009vkj.2_Silent_p.F122F|CDK11B_uc001ags.1_Silent_p.F323F|CDK11B_uc001agt.1_Silent_p.F248F|CDK11B_uc001aha.1_Silent_p.F429F|CDK11B_uc001agw.1_Silent_p.F413F|CDK11B_uc001agy.1_Silent_p.F456F|CDK11B_uc001agx.1_Silent_p.F447F|CDK11B_uc001agz.1_Silent_p.F209F	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	478	Protein kinase.		I -> V.		apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						ACGTGATCGGGAAGCCCTCCT	0.557000														127			57		0	0	0.014410	0	0
E4F1	1877	broad.mit.edu	37	16	2284180	2284180	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:2284180C>T	uc002cpm.3	+	9	1432	c.1384C>T	c.(1384-1386)Ccg>Tcg	p.P462S	E4F1_uc010bsi.3_Missense_Mutation_p.P462S|E4F1_uc010bsj.3_Intron|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	462	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						AGGGCCGAGGCCGTTCGCCTG	0.701000														25			12		0	0	0.013537	0	0
C1orf168	199920	broad.mit.edu	37	1	57209936	57209936	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:57209936C>T	uc001cym.4	-	9	1797	c.1391G>A	c.(1390-1392)gGg>gAg	p.G464E	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	464										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTCCAGATGCCCACCTGAAAG	0.448000														9			3		0	0	0.004672	0	0
LLGL2	3993	broad.mit.edu	37	17	73555366	73555366	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:73555366C>T	uc002joh.3	+	5	559	c.405C>T	c.(403-405)gtC>gtT	p.V135V	LLGL2_uc002jog.1_Silent_p.V135V|LLGL2_uc010dgf.1_Silent_p.V135V|LLGL2_uc002joi.3_Silent_p.V135V|LLGL2_uc010dgg.2_Silent_p.V135V|LLGL2_uc002joj.3_Silent_p.V124V	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	135					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCACCGTGGTCCTGCCACATT	0.642000														41			6		0	0	0.001984	0	0
IKZF4	64375	broad.mit.edu	37	12	56428585	56428585	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:56428585C>T	uc001sjb.1	+	8	1387	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	IKZF4_uc010sqa.1_Missense_Mutation_p.P363S|IKZF4_uc001sjc.1_Missense_Mutation_p.P410S|IKZF4_uc001sjd.1_Missense_Mutation_p.P308S|IKZF4_uc009zoi.1_Missense_Mutation_p.P365S|IKZF4_uc001sje.1_Missense_Mutation_p.P369S	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	410					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGCCCCTCCCTGGTCGACT	0.637000														34			16		0	0	0.004007	0	0
TPTE2	93492	broad.mit.edu	37	13	20025334	20025334	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:20025334C>T	uc001umd.3	-	11	984	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R147Q|TPTE2_uc001ume.3_Missense_Mutation_p.R181Q|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	258	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R181Q(2)|p.L258L(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATAGTGGTTTCGATGTTTCTT	0.363000														19			4		0	0	0.014758	0	0
LRP1B	53353	broad.mit.edu	37	2	141245207	141245207	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:141245207A>T	uc002tvj.1	-	57	10194	c.9222T>A	c.(9220-9222)tgT>tgA	p.C3074*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3074					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCATTTAAACACATTCTAT	0.299000										TSP Lung(27;0.18)				28			8		0	0	0.004482	0	0
TAS2R1	50834	broad.mit.edu	37	5	9630007	9630007	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:9630007G>A	uc003jem.1	-	0	457	c.138C>T	c.(136-138)ctC>ctT	p.L46L		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	46					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AAGAAAGAAGGAGATCCAGCG	0.383000														39			11		0	0	0.013537	0	0
NBEAL2	23218	broad.mit.edu	37	3	47043884	47043884	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:47043884C>T	uc003cqp.3	+	31	5354	c.5175C>T	c.(5173-5175)ttC>ttT	p.F1725F	NBEAL2_uc010hjm.2_Silent_p.F1102F|NBEAL2_uc010hjn.2_Silent_p.F121F	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1725							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTCCCAGTTCGAAATGGACA	0.582000														74			19		0	0	0.018920	0	0
ZNF438	220929	broad.mit.edu	37	10	31137869	31137870	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:31137869_31137870GG>AA	uc010qdz.2	-	6	1899_1900	c.1464_1465CC>TT	c.(1462-1467)tcccct>tcTTct	p.P489S	ZNF438_uc001ivn.3_Missense_Mutation_p.P440S|ZNF438_uc010qdy.2_Missense_Mutation_p.P479S|ZNF438_uc001ivo.4_Missense_Mutation_p.P53S|ZNF438_uc009xlg.3_Missense_Mutation_p.P489S|ZNF438_uc001ivp.4_Missense_Mutation_p.P479S|ZNF438_uc010qea.2_Missense_Mutation_p.P489S|ZNF438_uc010qeb.2_Missense_Mutation_p.P489S|ZNF438_uc010qec.1_Missense_Mutation_p.P53S	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CTGGGCTTAGGGGAAGAGCTGT	0.475000														99			42		0	0	0.004672	0	0
MYLK	4638	broad.mit.edu	37	3	123456314	123456314	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:123456314C>T	uc003ego.3	-	7	947	c.665G>A	c.(664-666)gGa>gAa	p.G222E	MYLK_uc011bjw.2_Missense_Mutation_p.G222E|MYLK_uc003egp.3_Missense_Mutation_p.G222E|MYLK_uc003egq.3_Missense_Mutation_p.G222E|MYLK_uc003egr.3_Missense_Mutation_p.G222E|MYLK_uc003egs.3_Missense_Mutation_p.G46E|MYLK_uc010hrs.1_Missense_Mutation_p.G222E	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	222	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGGTTGACTCCATGGATTTC	0.547000														101			35		0	0	0.015359	0	0
CDH23	64072	broad.mit.edu	37	10	73377123	73377123	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:73377123C>T	uc001jrx.4	+	10	1497	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	CDH23_uc001jrw.4_Silent_p.L369L|CDH23_uc001jry.3_Silent_p.L369L|CDH23_uc001jrz.3_Silent_p.L369L|CDH23_uc021psl.1_Silent_p.L369L|CDH23_uc009xql.3_Silent_p.L369L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	369	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCTTCCACTCTTCATCCAGG	0.582000														35			15		0	0	0.003163	0	0
CCKAR	886	broad.mit.edu	37	4	26483489	26483489	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:26483489G>A	uc003gse.1	-	4	1211	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	353					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)	GAGGATGAAGGAAATGGGGGT	0.612000														63			26		0	0	0.005443	0	0
OR51E2	81285	broad.mit.edu	37	11	4703639	4703639	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:4703639G>A	uc001lzk.2	-	1	547	c.303C>T	c.(301-303)ttC>ttT	p.F101F	OR51E2_uc021qcr.1_Silent_p.F101F	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	101					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)		CATGAATAAAGAACATCTGGG	0.522000														38			8		0	0	0.004482	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918327	48918327	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:48918327G>A	uc002isv.4	+	1	2372	c.1678G>A	c.(1678-1680)Gtc>Atc	p.V560I	WFIKKN2_uc010dbu.3_Missense_Mutation_p.V467I	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	560	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCTTCGTGAGGTCATGCACAA	0.627000														56			37		0	0	0.013114	0	0
EGR2	1959	broad.mit.edu	37	10	64573153	64573153	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:64573153G>A	uc010qio.2	-	2	1304	c.1284C>T	c.(1282-1284)cgC>cgT	p.R428R	EGR2_uc010qim.2_Silent_p.R415R|EGR2_uc010qin.2_Silent_p.R365R|EGR2_uc001jmi.3_Silent_p.R415R|EGR2_uc009xph.3_Silent_p.R415R	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	415					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCTTGGTGTGGCGCTTCCTCT	0.617000														51			38		0	0	0.019004	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325035	150325035	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:150325035C>T	uc022apv.1	-	2	1341	c.861G>A	c.(859-861)gaG>gaA	p.E287E	GIMAP6_uc003whn.3_Silent_p.E217E|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	217							GTP binding	p.L287L(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTCAACTTTCTCCATGAGCT	0.517000														173			96		0	0	0.014410	0	0
PAK7	57144	broad.mit.edu	37	20	9546738	9546738	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:9546738G>A	uc002wnl.2	-	5	1829	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	PAK7_uc002wnk.2_Silent_p.S428S|PAK7_uc002wnj.2_Silent_p.S428S|PAK7_uc010gby.1_Silent_p.S428S	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	428	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.S428P(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACTGTTCATGGGACACCCTGG	0.632000														46			23		0	0	0.016522	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022919	58022919	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:58022919G>A	uc001spg.1	-	6	1155	c.723C>T	c.(721-723)tcC>tcT	p.S241S	B4GALNT1_uc010sru.2_Silent_p.S186S|B4GALNT1_uc010srv.2_Intron	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	241					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTCCCTCGGTGGAGAACCGGA	0.537000														23			8		0	0	0.008291	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676527	65676528	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:65676527_65676528GG>AA	uc002aou.1	-	19	3782_3783	c.3572_3573CC>TT	c.(3571-3573)gcc>gTT	p.A1191V	IGDCC4_uc002aot.1_Missense_Mutation_p.A779V	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1191						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTGGCCCGGGGGCTGCCAGCTC	0.668000														23			10		0	0	0.004672	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028306	21028306	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:21028306G>A	uc010sil.2	+	6	930	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	SLCO1B3_uc001rek.3_Missense_Mutation_p.E289K|SLCO1B3_uc001rel.3_Missense_Mutation_p.E289K|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	289					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.E289*(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ACCACAAAAAGAAAGAAAAAT	0.328000														33			7		0	0	0.001984	0	0
FH	2271	broad.mit.edu	37	1	241661172	241661172	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:241661172A>G	uc001hyx.3	-	9	1552	c.1489T>C	c.(1489-1491)Ttt>Ctt	p.F497L		NM_000143	NP_000134	P07954	FUMH_HUMAN	Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein, mRNA.	497					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CATTCGTCAAACTGCTCTGCT	0.363000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer					21			3		0	0	0.004672	0	0
GNAS	2778	broad.mit.edu	37	20	57415169	57415169	+	Missense_Mutation	SNP	G	A	A	rs139302910		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:57415169G>A	uc021wfl.1	+	0	375	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Missense_Mutation_p.R3Q|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	0				C -> Y (in Ref. 8; AAH66923).	G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGATGGATCGGAGGTCCCGG	0.657000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				63			18		0	0	0.008871	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88211343	88211343	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:88211343G>A	uc011lte.2	-	16	2460	c.2393C>T	c.(2392-2394)tCg>tTg	p.S798L	AGTPBP1_uc004aod.4_Missense_Mutation_p.S412L|AGTPBP1_uc011ltc.2_Intron|AGTPBP1_uc011ltd.2_Missense_Mutation_p.S786L|AGTPBP1_uc010mqc.3_Missense_Mutation_p.S746L	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	786					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTCCTGAACCGAATACATGAG	0.313000														26			6		0	0	0.004482	0	0
TRANK1	9881	broad.mit.edu	37	3	36872408	36872408	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:36872408G>A	uc003cgj.3	-	20	8782	c.8534C>T	c.(8533-8535)tCg>tTg	p.S2845L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2845					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACCATATCCGAAACCCTCTT	0.597000														76			25		0	0	0.018920	0	0
TIMP4	7079	broad.mit.edu	37	3	12198884	12198884	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:12198884C>T	uc003bwo.3	-	2	748	c.237_splice	c.e2+1	p.K79_splice	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	79	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						CCCCCATGTACCTTTATCTGT	0.527000														206			11		0	0	0.010729	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3394464	3394464	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:3394464G>A	uc001akg.4	+	10	1747	c.1499G>A	c.(1498-1500)cGg>cAg	p.R500Q	ARHGEF16_uc001aki.3_Missense_Mutation_p.R212Q|ARHGEF16_uc001akj.3_Missense_Mutation_p.R212Q|ARHGEF16_uc010nzh.2_Missense_Mutation_p.R204Q	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	500					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCTGCCTCCCGGTGGCTGCTG	0.612000														49			17		0	0	0.006122	0	0
TIE1	7075	broad.mit.edu	37	1	43775076	43775076	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:43775076G>A	uc001ciu.3	+	8	1383	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V	TIE1_uc010okd.2_Silent_p.V402V|TIE1_uc010oke.2_Silent_p.V357V|TIE1_uc009vwq.3_Silent_p.V358V|TIE1_uc010okf.1_Silent_p.V47V|TIE1_uc010okg.2_Silent_p.V47V|TIE1_uc010okc.2_Missense_Mutation_p.G311R	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	402	Ig-like C2-type 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.I401F(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGCCATTGTGGAGCCAGAGA	0.607000														52			18		0	0	0.007413	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664159	44664159	+	Silent	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:44664159A>G	uc010zxl.1	+	2	409	c.333A>G	c.(331-333)aaA>aaG	p.K111K	SLC12A5_uc002xra.2_Silent_p.K88K|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.K88K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	111					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGGGTGGAAAAAAGAAGCCGG	0.562000														46			14		0	0	0.016723	0	0
MYRIP	25924	broad.mit.edu	37	3	40231917	40231917	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:40231917C>T	uc003cka.3	+	9	1763	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.S543F|MYRIP_uc010hhw.3_Missense_Mutation_p.S454F|MYRIP_uc011ayz.2_Missense_Mutation_p.S356F|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	543	Actin-binding.|Myosin-binding.				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)		GAACCATCTTCCCCCAGCGCC	0.597000														30			16		0	0	0.004990	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754518	31754518	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:31754518A>G	uc002rnw.1	-	4	625	c.554T>C	c.(553-555)tTt>tCt	p.F185S		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	186					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AACATACGTAAACAAGCCACC	0.453000														13			6		0	0	0.001168	0	0
TSTA3	7264	broad.mit.edu	37	8	144695729	144695729	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:144695729C>T	uc003yza.2	-	8	811	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	TSTA3_uc003yzb.2_Missense_Mutation_p.V259M	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	259					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GCCTCCACCACCGCCTCGGCT	0.682000														24			7		0	0	0.003080	0	0
OR5I1	10798	broad.mit.edu	37	11	55703536	55703536	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:55703536G>A	uc010ris.2	-	0	341	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAGGATGAAGGATTCTGTATC	0.438000														4			4		0	0	0.009096	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598398	151598398	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:151598398A>T	uc003ezf.2	+	2	172	c.67A>T	c.(67-69)Aag>Tag	p.K23*		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	23						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TGCCCTGGAAAAGTACTACCT	0.413000														51			15		0	0	0.003163	0	0
HELLS	3070	broad.mit.edu	37	10	96313987	96313988	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:96313987_96313988GG>AA	uc009xuo.3	+	2	363_364	c.258_259GG>AA	c.(256-261)atggaa>atAAaa	p.86_87ME>IK	HELLS_uc001kjs.3_Missense_Mutation_p.70_71ME>IK|HELLS_uc001kjt.3_Missense_Mutation_p.86_87ME>IK|HELLS_uc009xul.3_Missense_Mutation_p.86_87ME>IK|HELLS_uc009xum.3_Missense_Mutation_p.86_87ME>IK|HELLS_uc009xun.3_5'UTR|HELLS_uc001kju.3_5'UTR|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_5'UTR|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	86					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TGACGAAAATGGAACAGCAACA	0.302000														75			24		0	0	0.004672	0	0
S100A7A	338324	broad.mit.edu	37	1	153390687	153390687	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:153390687C>T	uc001fbt.1	+	1	186	c.129C>T	c.(127-129)ttC>ttT	p.F43F		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	43	EF-hand 1.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCCAATTTCCTCAGTGCCT	0.493000														107			31		0	0	0.012213	0	0
SSPO	23145	broad.mit.edu	37	7	149500848	149500848	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:149500848C>T	uc010lpk.3	+	54	8157	c.8157C>T	c.(8155-8157)tcC>tcT	p.S2719S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2722	TSP type-1 6.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCTGGTCCTCCTGGGCTC	0.687000														10			6		0	0	0.001168	0	0
COQ6	51004	broad.mit.edu	37	14	74428024	74428024	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:74428024C>T	uc001xph.3	+	8	1121	c.1040C>T	c.(1039-1041)cCt>cTt	p.P347L	ENTPD5_uc001xpi.3_Intron|COQ6_uc001xpe.3_Missense_Mutation_p.P272L|COQ6_uc010tuk.2_Missense_Mutation_p.P322L|COQ6_uc021rwk.1_Missense_Mutation_p.P272L	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	Homo sapiens coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (COQ6), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	347					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GTTCTGTTTCCTCTTGGGTTG	0.587000														30			6		0	0	0.003080	0	0
LILRA1	11024	broad.mit.edu	37	19	55085963	55085963	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:55085963G>A	uc010ern.3	+	3	735	c.266G>A	c.(265-267)tGg>tAg	p.W89*	LILRA1_uc002qgg.4_Nonsense_Mutation_p.W89*|LILRA1_uc002qgf.3_Nonsense_Mutation_p.W89*|LILRA1_uc010yfe.1_Nonsense_Mutation_p.W89*|LILRA1_uc010yff.1_Nonsense_Mutation_p.W77*|LILRA1_uc010ero.3_Nonsense_Mutation_p.W77*|LILRA1_uc010yfg.1_Nonsense_Mutation_p.W89*			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	90	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCATCACCTGGGAACACGCA	0.527000														56			21		0	0	0.016522	0	0
FER1L6	654463	broad.mit.edu	37	8	124989720	124989720	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:124989720G>A	uc003yqw.3	+	9	1140	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	312	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GATCTTCAAGGAAATGTTCCC	0.507000														73			46		0	0	0.014410	0	0
HEPACAM	220296	broad.mit.edu	37	11	124792320	124792320	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:124792320C>T	uc001qbk.3	-	5	1318	c.912G>A	c.(910-912)cgG>cgA	p.R304R	HEPACAM_uc009zbj.3_Silent_p.R22R	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	304					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		p.R304W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGGGGTTCTTCCGTTCCTGCT	0.602000														96			43		0	0	0.014410	0	0
CBLN4	140689	broad.mit.edu	37	20	54573646	54573646	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:54573646G>A	uc002xxa.3	-	2	1358	c.573C>T	c.(571-573)tcC>tcT	p.S191S		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	191	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CAGAAAACGTGGAATACTGCC	0.453000														36			16		0	0	0.006122	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308247	140308247	+	Silent	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:140308247T>C	uc003lih.2	+	0	1946	c.1770T>C	c.(1768-1770)agT>agC	p.S590S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.S590S	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	614					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTGACAGTGGTTCTAATG	0.517000														73			75		0	0	0.014410	0	0
ZNF668	79759	broad.mit.edu	37	16	31072471	31072471	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:31072471G>A	uc021tgt.1	-	3	2203	c.1847C>T	c.(1846-1848)aCc>aTc	p.T616I	ZNF668_uc010cag.2_Missense_Mutation_p.T593I|ZNF668_uc010caf.3_Missense_Mutation_p.T593I|ZNF668_uc002eao.3_Missense_Mutation_p.T593I	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CACAGGGTGGGTGCGTTCATG	0.652000														58			34		0	0	0.013726	0	0
DTNBP1	84062	broad.mit.edu	37	6	15615570	15615570	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:15615570C>T	uc003nbm.3	-	5	605	c.416G>A	c.(415-417)tGt>tAt	p.C139Y	DTNBP1_uc003nbl.3_Missense_Mutation_p.C58Y|DTNBP1_uc010jph.3_Missense_Mutation_p.C126Y|DTNBP1_uc003nbp.3_Missense_Mutation_p.C139Y	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	139					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			ACACTGCCCACATAAGTCTTC	0.383000									Hermansky-Pudlak syndrome					77			19		0	0	0.016522	0	0
ADCY9	115	broad.mit.edu	37	16	4164632	4164632	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:4164632G>A	uc002cvx.3	-	1	1351	c.812C>T	c.(811-813)tCg>tTg	p.S271L		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	271					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCTCCGGGCGAGGGGAAGCA	0.617000														24			5		0	0	0.001168	0	0
DNAH7	56171	broad.mit.edu	37	2	196681594	196681594	+	Silent	SNP	A	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:196681594A>C	uc002utj.4	-	50	9620	c.9519T>G	c.(9517-9519)tcT>tcG	p.S3173S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3173	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTTGGAGGAAGATAATATCT	0.393000														45			21		0	0	0.016522	0	0
AADACL2	344752	broad.mit.edu	37	3	151458570	151458570	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:151458570G>A	uc003ezc.3	+	1	395	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Intron	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	92						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATTCCAGTACGATTGTACTTG	0.378000														17			9		0	0	0.004482	0	0
ODZ3	55714	broad.mit.edu	37	4	183594300	183594300	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:183594300C>T	uc003ivd.1	+	5	1329	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	418					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTCTTAAATTCAATATCTCTC	0.433000														27			10		0	0	0.010729	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060380	35060380	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:35060380C>T	uc002xff.3	+	2	695	c.260C>T	c.(259-261)cCc>cTc	p.P87L	DLGAP4_uc010zvp.2_Missense_Mutation_p.P87L	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	87					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAGGAGAGCCCCTTCCCCAGC	0.627000														55			28		0	0	0.008361	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322723	4322723	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:4322723C>T	uc003ghu.3	+	7	2153	c.1978C>T	c.(1978-1980)Caa>Taa	p.Q660*	ZBTB49_uc003ghv.3_Nonsense_Mutation_p.Q143*|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Nonsense_Mutation_p.Q238*	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GTCCATGATCCAACCTCATGG	0.512000														41			17		0	0	0.004990	0	0
C17orf28	283987	broad.mit.edu	37	17	72959095	72959095	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:72959095C>T	uc002jmj.4	-	3	618	c.469G>A	c.(469-471)Gac>Aac	p.D157N	C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Missense_Mutation_p.D156N	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	157						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					ACCGTGAAGTCCGGGCAGAAG	0.677000														62			7		0	0	0.001984	0	0
NLRP5	126206	broad.mit.edu	37	19	56539825	56539825	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:56539825G>A	uc002qmj.3	+	6	2226	c.2226G>A	c.(2224-2226)ggG>ggA	p.G742G	NLRP5_uc002qmi.3_Silent_p.G723G	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	742						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ATGTCAAAGGGATCTTCCCAA	0.517000														164			68		0	0	0.014410	0	0
FAM134C	162427	broad.mit.edu	37	17	40734258	40734258	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:40734258G>A	uc002ial.2	-	8	1077	c.974C>T	c.(973-975)tCc>tTc	p.S325F	FAM134C_uc010wgq.1_Missense_Mutation_p.S125F|FAM134C_uc002iam.1_Missense_Mutation_p.S125F|FAM134C_uc010cyk.1_Missense_Mutation_p.S228F	NM_178126	NP_835227	Q86VR2	F134C_HUMAN	Homo sapiens family with sequence similarity 134, member C (FAM134C), transcript variant 1, mRNA.	325						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TCTGGCAAAGGATTCCTCTGG	0.537000														90			14		0	0	0.003163	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495407	20495407	+	RNA	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:20495407G>A	uc001ytf.1	+	4		c.610G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TTCTGTGTGAGGAAAATGAAT	0.393000														102			11		0	0	0.013537	0	0
abParts	0	broad.mit.edu	37	22	22758882	22758882	+	RNA	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:22758882G>A	uc021wml.1	+	61		c.6672G>A								Parts of antibodies, mostly variable regions.																		CAGCTCCCAGGAACAGCCCCC	0.567000														132			44		0	0	0.011902	0	0
OR5W2	390148	broad.mit.edu	37	11	55681905	55681905	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:55681905C>T	uc010rir.2	-	0	154	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D52Y(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGTTGGTAATCCATTCTGATT	0.383000														32			9		0	0	0.004482	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450628	85450628	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:85450628G>A	uc001tac.3	+	7	2168	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	LRRIQ1_uc021rbo.1_Missense_Mutation_p.G564D|LRRIQ1_uc001taa.1_Missense_Mutation_p.G661D	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	686										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCTTGTGAGGGCTTGAGTAAC	0.343000														41			15		0	0	0.020292	0	0
SMPD3	55512	broad.mit.edu	37	16	68404909	68404909	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:68404909G>A	uc002ewa.3	-	2	1598	c.1176C>T	c.(1174-1176)taC>taT	p.Y392Y	SMPD3_uc010cfe.3_Silent_p.Y392Y|SMPD3_uc010vlh.2_Silent_p.Y392Y	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	392					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCTGGCAGCCGTAGACCCCGA	0.577000														33			6		0	0	0.001984	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120576	64120576	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:64120576G>A	uc001nzy.3	+	20	3600	c.3551G>A	c.(3550-3552)gGt>gAt	p.G1184D	CCDC88B_uc009ypo.2_Missense_Mutation_p.G1181D|CCDC88B_uc001oaa.3_Missense_Mutation_p.G336D|CCDC88B_uc001oab.1_Missense_Mutation_p.G15D|CCDC88B_uc001oac.3_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	1184					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGCTGCAGGGTGAACGCGGG	0.687000														15			5		0	0	0.014758	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870935	51870935	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:51870935C>T	uc002xwo.3	+	1	1825	c.938C>T	c.(937-939)tCc>tTc	p.S313F	TSHZ2_uc021wex.1_Missense_Mutation_p.S310F	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	313					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCAACCATTTCCTCGAAAATG	0.453000														71			24		0	0	0.005443	0	0
RTCA	8634	broad.mit.edu	37	1	100731969	100731969	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:100731969T>C	uc001dtd.3	+	0	256	c.38T>C	c.(37-39)aTg>aCg	p.M13T	RTCA_uc010ouh.1_Missense_Mutation_p.M13T|RTCA_uc001dtc.3_Missense_Mutation_p.M13T	NM_001130841	NP_001124313	O00442	RTC1_HUMAN	Homo sapiens RNA terminal phosphate cyclase domain 1 (RTCD1), transcript variant 1, mRNA.	13					RNA processing	mitochondrion|nucleoplasm	ATP binding|RNA binding|RNA-3'-phosphate cyclase activity|protein binding										GGCAGCATCATGGAAGGGGTG	0.652000														54			25		0	0	0.009535	0	0
RTN1	6252	broad.mit.edu	37	14	60194302	60194302	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:60194302G>A	uc001xen.1	-	2	1309	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	367					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGTTTCATACGATAATCCCTT	0.622000														18			6		0	0	0.001984	0	0
NRSN1	140767	broad.mit.edu	37	6	24146056	24146056	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:24146056G>A	uc010jpq.1	+	3	707	c.470G>A	c.(469-471)cGa>cAa	p.R157Q		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	157					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TTTAAAGAACGAATCGCAGAC	0.493000														53			9		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179650858	179650858	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:179650858C>G	uc021vsy.1	-	13	2312	c.2087G>C	c.(2086-2088)gGa>gCa	p.G696A	TTN_uc021vsz.1_Missense_Mutation_p.G650A|TTN_uc021vta.1_Missense_Mutation_p.G650A|TTN_uc021vtb.1_Missense_Mutation_p.G650A|TTN_uc002unb.2_Missense_Mutation_p.G696A|TTN_uc010frg.1_Missense_Mutation_p.G278A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	696							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G650E(3)|p.G696E(2)|p.S696S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTTTTTTCCAACGTCCAC	0.507000														23			3		0	0	0.004672	0	0
ACVR1C	130399	broad.mit.edu	37	2	158412607	158412607	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:158412607G>A	uc002tzk.4	-	2	785	c.542C>T	c.(541-543)tCt>tTt	p.S181F	ACVR1C_uc002tzl.4_Intron|ACVR1C_uc010fof.3_Intron|ACVR1C_uc010foe.3_Missense_Mutation_p.S131F	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	181	GS.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TAACATACCAGAGCCAGATCC	0.338000														21			5		0	0	0.001168	0	0
TRPM3	80036	broad.mit.edu	37	9	73151069	73151069	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:73151069C>T	uc004aid.3	-	24	5168	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	TRPM3_uc004ahu.3_Missense_Mutation_p.E1484K|TRPM3_uc004ahv.3_Missense_Mutation_p.E1444K|TRPM3_uc004ahw.3_Missense_Mutation_p.E1514K|TRPM3_uc004ahx.3_Missense_Mutation_p.E1501K|TRPM3_uc004ahy.3_Missense_Mutation_p.E1504K|TRPM3_uc004ahz.3_Missense_Mutation_p.E1491K|TRPM3_uc004aia.3_Missense_Mutation_p.E1489K|TRPM3_uc004aib.3_Missense_Mutation_p.E1479K|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1667						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCACTTGGCTCCTCTGCCGAG	0.537000														327			122		0	0	0.014410	0	0
SORCS3	22986	broad.mit.edu	37	10	107015513	107015513	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:107015513G>A	uc001kyi.1	+	23	3518	c.3291G>A	c.(3289-3291)ctG>ctA	p.L1097L		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1097						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGTTTGAGCTGAAGCCGGGGG	0.448000														28			15		0	0	0.008871	0	0
KCNH4	23415	broad.mit.edu	37	17	40328259	40328260	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:40328259_40328260CC>AT	uc002hzb.2	-	4	974_975	c.641_642GG>AT	c.(640-642)ggg>gAT	p.G214D		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	214					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCAGCGAGACCCCCCCACGGA	0.609000														153			30		0	0	0.004672	0	0
PVRL3	25945	broad.mit.edu	37	3	110837599	110837599	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:110837599C>T	uc003dxt.2	+	2	858	c.599C>T	c.(598-600)cCc>cTc	p.P200L	PVRL3_uc003dxu.2_Missense_Mutation_p.P177L|PVRL3_uc021xch.1_Missense_Mutation_p.P200L	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA.	200	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	p.P200P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ACTGGAAAACCCGTTGCACAT	0.438000														29			8		0	0	0.004482	0	0
ZNF750	79755	broad.mit.edu	37	17	80789372	80789372	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:80789372C>T	uc002kga.3	-	1	1270	c.959G>A	c.(958-960)gGa>gAa	p.G320E	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	320						intracellular	zinc ion binding	p.G320E(2)|p.G320*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCTGTAAAATCCGTAAGGAAT	0.542000														126			108		0	0	0.014410	0	0
ATF2	1386	broad.mit.edu	37	2	175957886	175957886	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:175957886C>T	uc002ujl.3	-	11	1350	c.1088G>A	c.(1087-1089)aGa>aAa	p.R363K	ATF2_uc002ujv.3_Missense_Mutation_p.R110K|ATF2_uc002ujm.3_Missense_Mutation_p.R305K|ATF2_uc002uju.3_Non-coding_Transcript|ATF2_uc002ujn.3_Non-coding_Transcript|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_Missense_Mutation_p.R363K|ATF2_uc010fqu.3_Missense_Mutation_p.R345K|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_Missense_Mutation_p.R305K|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_Missense_Mutation_p.R314K|ATF2_uc002ujw.1_Missense_Mutation_p.R305K|ATF2_uc002ujx.1_Non-coding_Transcript	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	363					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			AGCTGCTGCTCTATTTCGCTC	0.438000														40			12		0	0	0.020292	0	0
KLK11	11012	broad.mit.edu	37	19	51530734	51530734	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:51530734C>T	uc002pvd.1	-	0	152	c.40G>A	c.(40-42)Ggc>Agc	p.G14S	KLK11_uc002pvc.4_5'Flank|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_Intron|KLK11_uc002pvf.1_Intron|KLK11_uc010eom.3_5'Flank	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	14					proteolysis	extracellular region	serine-type endopeptidase activity	p.S13S(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		AGACCTCTGCCCGATGACTTC	0.617000														122			45		0	0	0.014410	0	0
CNGA1	1259	broad.mit.edu	37	4	47939215	47939215	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:47939215C>T	uc003gxu.3	-	9	1644	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Silent_p.K432K	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	432					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	p.K432N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TAATAACCCTCTTTTCCATAT	0.343000														61			15		0	0	0.003163	0	0
FBLN5	10516	broad.mit.edu	37	14	92336611	92336611	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:92336611G>A	uc010aue.3	-	11	1900	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	TC2N_uc001xzv.4_5'Flank|FBLN5_uc010aud.3_Missense_Mutation_p.S440F|FBLN5_uc001xzx.4_Missense_Mutation_p.S435F|FBLN5_uc001xzw.3_Non-coding_Transcript	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	435					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TCGGATCACGGAGCTGCCTCT	0.572000														87			28		0	0	0.007291	0	0
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:122812709C>T	uc001ucg.2	-	17	3189	c.3034_splice	c.e17-1	p.E1012_splice	CLIP1_uc001uch.1_Splice_Site_p.E1001_splice|CLIP1_uc001uci.1_Splice_Site_p.E966_splice|CLIP1_uc001ucj.1_Splice_Site_p.E587_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1012					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493000														143			16		0	0	0.019004	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20517359	20517359	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:20517359G>A	uc002wrz.3	-	24	3498	c.3355C>T	c.(3355-3357)Cct>Tct	p.P1119S	RALGAPA2_uc002wry.3_Missense_Mutation_p.P734S|RALGAPA2_uc010zsg.2_Missense_Mutation_p.P567S	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1119					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGCAGTAAAGGAATCTCCTGG	0.458000														22			5		0	0	0.014758	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603001	111603001	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:111603001C>T	uc010hqa.3	+	1	488	c.77C>T	c.(76-78)tCt>tTt	p.S26F	PHLDB2_uc003dyc.3_Missense_Mutation_p.S53F|PHLDB2_uc003dyd.3_Missense_Mutation_p.S26F|PHLDB2_uc003dyg.3_Missense_Mutation_p.S26F|PHLDB2_uc003dyh.3_Missense_Mutation_p.S26F|PHLDB2_uc003dye.4_Missense_Mutation_p.S26F|PHLDB2_uc003dyf.4_Missense_Mutation_p.S26F	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	26						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GTGGTGCATTCTGTTGAGAAC	0.408000														69			31		0	0	0.012213	0	0
KIAA0240	23506	broad.mit.edu	37	6	42832733	42832733	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:42832733C>T	uc003osn.1	+	12	2940	c.2789C>T	c.(2788-2790)gCc>gTc	p.A930V	KIAA0240_uc011duw.1_Missense_Mutation_p.A930V|KIAA0240_uc003osp.1_Missense_Mutation_p.A930V	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	930										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CCTCTGAAGGCCAGTCAGTGC	0.547000														65			18		0	0	0.006122	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29698939	29698939	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:29698939G>A	uc002nsd.2	-	1	452	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_006003	NP_005994	P47985	UCRI_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 (UQCRFS1), nuclear gene encoding mitochondrial protein, mRNA.	114					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TACCAAATAGGAGAAACCTTT	0.478000														48			10		0	0	0.013537	0	0
CNTN3	5067	broad.mit.edu	37	3	74347335	74347335	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:74347335G>A	uc003dpm.1	-	16	2254	c.2174C>T	c.(2173-2175)cCt>cTt	p.P725L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	725	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TAGTTCTTCAGGGACTGGCTA	0.453000														11			8		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179664595	179664595	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:179664595G>A	uc021vsy.1	-	4	851	c.626C>T	c.(625-627)tCg>tTg	p.S209L	TTN_uc021vsz.1_Missense_Mutation_p.S209L|TTN_uc021vta.1_Missense_Mutation_p.S209L|TTN_uc021vtb.1_Missense_Mutation_p.S209L|TTN_uc002unb.2_Missense_Mutation_p.S209L|TTN_uc002und.3_Missense_Mutation_p.S209L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	209							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S209L(6)		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)			CTGAGCAGTCGAAACAATTGT	0.418000														22			20		0	0	0.021523	0	0
MUC16	94025	broad.mit.edu	37	19	9046923	9046923	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:9046923C>T	uc002mkp.3	-	4	34912	c.34708G>A	c.(34708-34710)Gaa>Aaa	p.E11570K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11572	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCTGGTTCATATGGGGTC	0.502000														21			16		0	0	0.008871	0	0
OR5H1	26341	broad.mit.edu	37	3	97852022	97852022	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:97852022G>A	uc011bgt.2	+	0	481	c.481G>A	c.(481-483)Gga>Aga	p.G161R		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AATCCATGAAGGATTTTTATT	0.358000														21			3		0	0	0.004672	0	0
OR4K1	79544	broad.mit.edu	37	14	20404491	20404491	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:20404491G>A	uc001vwj.2	+	0	725	c.666G>A	c.(664-666)ttG>ttA	p.L222L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCATCATTTTGATCGGTGTCC	0.433000														36			8		0	0	0.003080	0	0
EIF4G2	1982	broad.mit.edu	37	11	10820827	10820827	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:10820827G>A	uc001mjb.3	-	19	3003	c.1851C>T	c.(1849-1851)caC>caT	p.H617H	EIF4G2_uc009ygf.3_Silent_p.H823H|EIF4G2_uc001mjc.3_Silent_p.H617H|EIF4G2_uc001mjd.3_Silent_p.H785H	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	823	MI.				RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTAGATCAACGTGATCATGAA	0.433000														46			9		0	0	0.008291	0	0
CUX2	23316	broad.mit.edu	37	12	111758289	111758289	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:111758289C>T	uc001tsa.2	+	16	2630	c.2476C>T	c.(2476-2478)Cgc>Tgc	p.R826C		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	826						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGCCTGGCCCCGCGGGGACGA	0.771000														15			3		0	0	0.004672	0	0
SSX1	6756	broad.mit.edu	37	X	48116699	48116699	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:48116699C>A	uc004djb.1	+	1	114	c.23C>A	c.(22-24)gCa>gAa	p.A8E		NM_005635	NP_005626	Q16384	SSX1_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GACACCTTTGCAAAGAGACCC	0.552000			T	SS18	synovial sarcoma									16			26		1.36615e-20	1.43188e-20	0.013726	1	0
PPIF	10105	broad.mit.edu	37	10	81111303	81111303	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:81111303C>T	uc001kai.3	+	3	461	c.376C>T	c.(376-378)Cct>Tct	p.P126S	PPIF_uc001kaj.3_Missense_Mutation_p.P126S	NM_005729	NP_005720	P30405	PPIF_HUMAN	Homo sapiens peptidylprolyl isomerase F (PPIF), nuclear gene encoding mitochondrial protein, mRNA.	126	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	AAGCCGCTTTCCTGACGAGAA	0.607000														43			13		0	0	0.016723	0	0
OR4D9	390199	broad.mit.edu	37	11	59283138	59283138	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:59283138C>T	uc010rkv.2	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCCTGCATTTCGTGCCCTGCA	0.562000														154			66		0	0	0.014410	0	0
RAB27A	5873	broad.mit.edu	37	15	55497898	55497898	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:55497898G>A	uc002aco.3	-	6	704	c.473C>T	c.(472-474)cCc>cTc	p.P158L	RAB27A_uc002acr.3_Missense_Mutation_p.P158L|RAB27A_uc002acp.3_Missense_Mutation_p.P158L|RAB27A_uc002acq.3_Missense_Mutation_p.P158L	NM_183234	NP_899059	P51159	RB27A_HUMAN	Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 2, mRNA.	158					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	p.P158L(2)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TTCAAAGTAGGGGATTCTGGA	0.428000														52			16		0	0	0.003163	0	0
TMEM27	57393	broad.mit.edu	37	X	15646196	15646196	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:15646196C>T	uc004cxc.2	-	5	823	c.567G>A	c.(565-567)atG>atA	p.M189I		NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN	Homo sapiens transmembrane protein 27 (TMEM27), mRNA.	189					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					CAATTGTGATCATGTTTTCAC	0.428000														5			10		0	0	0.008291	0	0
PAIP1	10605	broad.mit.edu	37	5	43536967	43536967	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:43536967G>A	uc003job.3	-	5	1173	c.926C>T	c.(925-927)tCt>tTt	p.S309F	PAIP1_uc003joa.3_Missense_Mutation_p.S230F|PAIP1_uc003joc.3_Missense_Mutation_p.S197F	NM_006451	NP_899152	Q9H074	PAIP1_HUMAN	Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA.	309	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	RNA binding|protein binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CATAGGATTAGAAAACAGGGC	0.323000														49			10		0	0	0.008291	0	0
CPA6	57094	broad.mit.edu	37	8	68334778	68334778	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:68334778C>T	uc003xxq.4	-	10	1531	c.1275G>A	c.(1273-1275)gtG>gtA	p.V425V	CPA6_uc003xxr.4_Silent_p.V181V	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	425					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TGATATTTTTCACAGCCAGCA	0.458000														120			42		0	0	0.013114	0	0
SETD1A	9739	broad.mit.edu	37	16	30995335	30995335	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:30995335C>T	uc002ead.1	+	18	5801	c.5115C>T	c.(5113-5115)tcC>tcT	p.S1705S	HSD3B7_uc002eaf.2_5'Flank|HSD3B7_uc010cac.2_5'Flank|HSD3B7_uc002eag.2_5'Flank|HSD3B7_uc002eah.2_5'Flank	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1705	Post-SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCGGGGCTCCCTAAACTGAG	0.612000														11			7		0	0	0.001984	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704233	29704233	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:29704233G>A	uc003afa.1	+	1	337	c.138G>A	c.(136-138)ccG>ccA	p.P46P	GAS2L1_uc010gvm.1_Silent_p.P46P|GAS2L1_uc003afb.1_Silent_p.P46P|GAS2L1_uc003afc.1_Silent_p.P46P|GAS2L1_uc003afd.1_Silent_p.P46P|GAS2L1_uc003afe.1_Silent_p.P46P	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	46	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TGGGTCTCCCGGGTGGTGGCG	0.672000														5			5		0	0	0.001168	0	0
MYO5C	55930	broad.mit.edu	37	15	52571166	52571166	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:52571166C>T	uc010bff.3	-	3	515	c.353G>A	c.(352-354)gGa>gAa	p.G118E	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Missense_Mutation_p.G81E|MIR1266_uc021smp.1_5'Flank	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	118	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GATGGCATCTCCGTATATTGG	0.488000														55			30		0	0	0.010818	0	0
MUC16	94025	broad.mit.edu	37	19	9088081	9088081	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:9088081G>A	uc002mkp.3	-	0	3938	c.3734C>T	c.(3733-3735)tCa>tTa	p.S1245L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1245	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S1245*(3)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGTTTGTTGATTCAGGGTA	0.507000														183			187		0	0	0.014410	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106053529	106053529	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:106053529C>T	uc001yrt.3	-	3	817	c.786G>A	c.(784-786)caG>caA	p.Q262Q	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GGGGCAGCTCCTGTGACCCCT	0.662000														26			6		0	0	0.003080	0	0
REST	5978	broad.mit.edu	37	4	57796419	57796419	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:57796419C>T	uc003hch.3	+	3	1742	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	REST_uc003hci.3_Silent_p.S465S|REST_uc010ihf.3_Silent_p.S139S	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	465	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ATGAAAAGTCCGTCAAAGCAG	0.373000														26			8		0	0	0.003080	0	0
DNAJC10	54431	broad.mit.edu	37	2	183605028	183605028	+	Silent	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:183605028T>C	uc002uow.1	+	11	1405	c.990T>C	c.(988-990)ttT>ttC	p.F330F	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Silent_p.F284F|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	330					ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTTCTAGTTTCTCAACTCAT	0.249000														21			8		0	0	0.003080	0	0
KALRN	8997	broad.mit.edu	37	3	124390539	124390539	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:124390539G>A	uc003ehg.3	+	47	6860	c.6733G>A	c.(6733-6735)Gaa>Aaa	p.E2245K	KALRN_uc003ehi.3_Missense_Mutation_p.E586K|KALRN_uc003ehk.3_Missense_Mutation_p.E548K|KALRN_uc011bjz.2_Missense_Mutation_p.E337K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2244					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCAACGGAAAGAAAGGAGCAC	0.552000														74			27		0	0	0.012213	0	0
MAP9	79884	broad.mit.edu	37	4	156289808	156289808	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:156289808G>A	uc003ios.3	-	4	902	c.638C>T	c.(637-639)tCc>tTc	p.S213F	MAP9_uc011cin.2_Missense_Mutation_p.S212F|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Missense_Mutation_p.S212F|MAP9_uc010iqb.2_Missense_Mutation_p.S140F	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	213					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CGTTGGAAGGGAAGAAGGTGC	0.403000														66			27		0	0	0.006320	0	0
ZNF536	9745	broad.mit.edu	37	19	31040064	31040064	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:31040064G>A	uc002nsu.1	+	3	3676	c.3538G>A	c.(3538-3540)Gaa>Aaa	p.E1180K	ZNF536_uc010edd.1_Missense_Mutation_p.E1180K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D1179N(1)		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)					GAACAACGATGAAGAGGATGT	0.552000														49			19		0	0	0.008871	0	0
SPRY3	10251	broad.mit.edu	37	X	155004002	155004002	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:155004002C>T	uc022cio.1	+	0	469	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	SPRY3_uc004fnq.1_Missense_Mutation_p.P157S	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	157	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAAGTGCGTCCCCTGCACAGC	0.592000														94			27		0	0	0.006320	0	0
STMN2	11075	broad.mit.edu	37	8	80553665	80553665	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:80553665G>A	uc022awk.1	+	2	550	c.168G>A	c.(166-168)ctG>ctA	p.L56L	STMN2_uc003ybj.3_Silent_p.L56L|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	56	Regulatory/phosphorylation domain (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CTTTTGAGCTGATCTTGAAGC	0.453000														53			15		0	0	0.003163	0	0
LRRC55	219527	broad.mit.edu	37	11	56950032	56950032	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:56950032T>C	uc001njl.2	+	0	812	c.665T>C	c.(664-666)cTg>cCg	p.L222P		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	192	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TTCCTCAGCCTGGAGGCTCTT	0.652000														74			37		0	0	0.005524	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793478	21793478	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:21793478G>A	uc001wag.3	+	14	2303	c.2303G>A	c.(2302-2304)cGa>cAa	p.R768Q	RPGRIP1_uc001wah.3_Missense_Mutation_p.R410Q|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.R243Q|RPGRIP1_uc010aim.3_Missense_Mutation_p.R151Q|RPGRIP1_uc001wal.3_Missense_Mutation_p.R127Q|RPGRIP1_uc001wam.3_Missense_Mutation_p.R85Q	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	768					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGCAATAAACGAAAGAAAGCC	0.542000														15			4		0	0	0.009096	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993849	140993849	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:140993849G>A	uc004fbt.3	+	3	983	c.659G>A	c.(658-660)aGa>aAa	p.R220K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	220							protein binding	p.R220I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCTGAGAGAACTCAGAGT	0.493000										HNSCC(15;0.026)				77			44		0	0	0.009718	0	0
HERC1	8925	broad.mit.edu	37	15	64017698	64017698	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:64017698T>C	uc002amp.3	-	17	3509	c.3361A>G	c.(3361-3363)Att>Gtt	p.I1121V	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1121					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCAGGATCAATTAGTTCTGGC	0.423000														58			27		0	0	0.007291	0	0
AOAH	313	broad.mit.edu	37	7	36616196	36616196	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:36616196C>T	uc022abu.1	-	12	1406	c.1005G>A	c.(1003-1005)caG>caA	p.Q335Q	AOAH_uc003tfh.4_Silent_p.Q335Q|AOAH_uc011kba.2_Silent_p.Q303Q	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	335					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTGAAATATTCTGGTAGTCCC	0.303000														33			8		0	0	0.004482	0	0
LLGL1	3996	broad.mit.edu	37	17	18137373	18137373	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:18137373T>G	uc002gsp.3	+	5	659	c.598T>G	c.(598-600)Tca>Gca	p.S200A		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	200					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCCCGTGGAGTCACTCCAGGG	0.632000														9			9		0	0	0.004482	0	0
NLRP9	338321	broad.mit.edu	37	19	56243946	56243946	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:56243946C>T	uc002qly.3	-	1	1279	c.1251G>A	c.(1249-1251)agG>agA	p.R417R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	417	NACHT.					cytoplasm	ATP binding	p.R417M(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATAACCCATTCCTCCGGAGAT	0.493000														94			30		0	0	0.006320	0	0
CACNA1E	777	broad.mit.edu	37	1	181701835	181701835	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:181701835G>A	uc009wxt.3	+	19	2808	c.2613G>A	c.(2611-2613)agG>agA	p.R871R	CACNA1E_uc001gow.3_Silent_p.R871R|CACNA1E_uc009wxs.3_Silent_p.R852R|CACNA1E_uc001gox.1_Silent_p.R97R	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	871					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACAACCAGAGGACCCCTTTGT	0.672000														25			7		0	0	0.003080	0	0
CD84	8832	broad.mit.edu	37	1	160523735	160523735	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:160523735T>C	uc001fwh.4	-	2	669	c.590A>G	c.(589-591)aAc>aGc	p.N197S	CD84_uc001fwf.4_Missense_Mutation_p.N197S|CD84_uc009wtn.3_Missense_Mutation_p.N197S|CD84_uc001fwi.4_Missense_Mutation_p.N83S|CD84_uc001fwg.4_Missense_Mutation_p.N197S|CD84_uc001fwj.3_Missense_Mutation_p.N197S|CD84_uc001fwk.3_Missense_Mutation_p.N197S	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	197	Ig-like C2-type.				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCTGACAGGGTTCTGGGCTGT	0.527000														37			10		0	0	0.006214	0	0
OR51F2	119694	broad.mit.edu	37	11	4842629	4842629	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:4842629C>T	uc010qyn.2	+	0	14	c.14C>T	c.(13-15)tCc>tTc	p.S5F		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGAAACATCCCTGTCTTCT	0.408000														78			18		0	0	0.010504	0	0
RPS20	6224	broad.mit.edu	37	8	56986630	56986630	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:56986630G>A	uc003xsm.2	-	1	290	c.92C>T	c.(91-93)tCc>tTc	p.S31F	RPS20_uc003xsn.2_Missense_Mutation_p.S31F|SNORD54_uc003xso.1_5'Flank|RPS20_uc011lea.1_Non-coding_Transcript	NM_001146227	NP_001139699	P60866	RS20_HUMAN	Homo sapiens ribosomal protein S20 (RPS20), transcript variant 1, mRNA.	31					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CTTTTCCAAGGATTTTACGTT	0.488000														88			16		0	0	0.008361	0	0
LIN7C	55327	broad.mit.edu	37	11	27528327	27528327	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:27528327G>A	uc001mrl.3	-	1	1	c.-26_splice	c.e1-1		LIN7C_uc009yii.3_Splice_Site|BDNF-AS_uc009yip.3_5'Flank|BDNF-AS_uc001mrn.3_5'Flank|BDNF-AS_uc001mro.3_5'Flank|BDNF-AS_uc001mrm.3_5'Flank|BDNF-AS_uc009yiq.3_5'Flank|BDNF-AS_uc001mrp.3_5'Flank|BDNF-AS_uc009yij.3_5'Flank|BDNF-AS_uc009yik.3_5'Flank|BDNF-AS_uc009yil.3_5'Flank|BDNF-AS_uc009yin.3_5'Flank|BDNF-AS_uc009yio.3_5'Flank|BDNF-AS_uc009yim.3_5'Flank|BDNF-AS_uc009yir.3_5'Flank|BDNF-AS_uc009yis.3_5'Flank|BDNF-AS_uc009yiu.3_5'Flank|BDNF-AS_uc009yix.3_5'Flank|BDNF-AS_uc009yiy.3_5'Flank|BDNF-AS_uc001mrq.4_5'Flank|BDNF-AS_uc009yiw.3_5'Flank|BDNF-AS_uc009yiz.3_5'Flank|BDNF-AS_uc001mrr.4_5'Flank|BDNF-AS_uc009yit.3_5'Flank|BDNF-AS_uc009yiv.3_5'Flank|BDNF-AS_uc009yja.3_5'Flank|BDNF-AS_uc009yjb.3_5'Flank	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	Homo sapiens lin-7 homolog C (C. elegans) (LIN7C), mRNA.						exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction				endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						AGACCCACAGGAAATGACGAC	0.637000														54			20		0	0	0.014323	0	0
LTBP2	4053	broad.mit.edu	37	14	74969619	74969619	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:74969619C>A	uc001xqa.3	-	33	5294	c.4907G>T	c.(4906-4908)tGc>tTc	p.C1636F		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1636	TB 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGCCACGTTGCACAGCTGAGC	0.612000														47			14		4.7546e-09	4.94373e-09	0.004007	1	0
MYBPH	4608	broad.mit.edu	37	1	203140628	203140628	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:203140628C>T	uc001gzh.1	-	4	735	c.676G>A	c.(676-678)Gac>Aac	p.D226N		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	226	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GAGTCCTGGTCCCCGGTGCGC	0.667000														18			21		0	0	0.021523	0	0
F13B	2165	broad.mit.edu	37	1	197030188	197030188	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:197030188C>G	uc001gtt.1	-	3	513	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	157	Sushi 3.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTATATAATTCAGGAGCCAAA	0.269000														13			3		0	0	0.004672	0	0
WDR19	57728	broad.mit.edu	37	4	39276558	39276558	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:39276558G>A	uc003gtv.3	+	32	3850	c.3696G>A	c.(3694-3696)aaG>aaA	p.K1232K	WDR19_uc011byi.2_Silent_p.K1072K|WDR19_uc003gtw.1_Silent_p.K829K	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	1232					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AATACAAAAAGAAGATCGAGG	0.443000														25			16		0	0	0.004007	0	0
AKR1E2	83592	broad.mit.edu	37	10	4879766	4879766	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:4879766C>T	uc001ihi.3	+	4	690	c.575C>T	c.(574-576)aCc>aTc	p.T192I	AKR1E2_uc010qam.1_Missense_Mutation_p.T153I|AKR1E2_uc001ihh.1_Missense_Mutation_p.T192I|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Missense_Mutation_p.T192I|AKR1E2_uc009xhw.3_Intron	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	192						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						AAGCCACTAACCAACCAGGTA	0.522000														31			7		0	0	0.001984	0	0
C15orf2	23742	broad.mit.edu	37	15	24922344	24922344	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:24922344C>T	uc001ywo.3	+	0	1804	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	444	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TATCCCTCCACTTTCCACCAC	0.527000														71			34		0	0	0.015359	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117769	117769	+	RNA	SNP	C	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrGL000205.1:117769C>A	uc002kgk.4	+	0		c.1147C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGTTGCAGTTCGAGCCAAGGC	0.587000														65			10		6.40141e-05	6.56722e-05	0.010729	1	0
ABCA10	10349	broad.mit.edu	37	17	67197775	67197775	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:67197775G>A	uc010dfa.1	-	10	1920	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	347					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)					AGGACTTAAGGAAAAATAATG	0.328000														40			35		0	0	0.006999	0	0
SLC27A5	10998	broad.mit.edu	37	19	59022257	59022257	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:59022257C>T	uc002qtc.2	-	1	839	c.729G>A	c.(727-729)caG>caA	p.Q243Q		NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	243					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TGTTCTCAGCCTGCAGCTTGG	0.637000														41			21		0	0	0.010504	0	0
OPTC	26254	broad.mit.edu	37	1	203467944	203467944	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:203467944G>A	uc001gzu.1	+	3	622	c.506G>A	c.(505-507)aGg>aAg	p.R169K		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	169						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCCGTATCAGGGCCGAAGAC	0.542000														69			10		0	0	0.010729	0	0
SMOC1	64093	broad.mit.edu	37	14	70459163	70459163	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:70459163G>A	uc001xlt.2	+	5	838	c.556G>A	c.(556-558)Gag>Aag	p.E186K	SMOC1_uc001xls.2_Missense_Mutation_p.E186K	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	186					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)		ACCCACGATGGAGACCCAGCC	0.438000														35			8		0	0	0.016723	0	0
OR2T4	127074	broad.mit.edu	37	1	248525725	248525725	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:248525725C>T	uc001ieh.1	+	0	843	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTGGTCATCCTCTTCTATG	0.542000														83			72		0	0	0.014410	0	0
SV2A	9900	broad.mit.edu	37	1	149878275	149878275	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:149878275C>T	uc001etg.3	-	10	2303	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	SV2A_uc009wlk.3_Silent_p.G56G|SV2A_uc001eth.2_Silent_p.G604G	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	604					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CTGCCAGTGTCCCCAGGAAGC	0.547000														70			43		0	0	0.014410	0	0
CHSY1	22856	broad.mit.edu	37	15	101718145	101718145	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:101718145G>A	uc021sxt.1	-	2	2333	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S	CHSY1_uc010usd.2_Silent_p.S347S	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	619					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTTAAACTGGGAGGATCCTA	0.473000														37			11		0	0	0.008291	0	0
OR4K2	390431	broad.mit.edu	37	14	20344669	20344669	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:20344669G>A	uc001vwh.1	+	0	243	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K80N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCCCAAAGATGATTACAGATT	0.413000														114			29		0	0	0.005443	0	0
GPR97	222487	broad.mit.edu	37	16	57718363	57718364	+	Missense_Mutation	DNP	CC	TT	TT	rs111888711	byFrequency	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:57718363_57718364CC>TT	uc002emh.3	+	9	1327_1328	c.1224_1225CC>TT	c.(1222-1227)atccgt>atTTgt	p.R409C	GPR97_uc010vhv.2_Missense_Mutation_p.R289C|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_Missense_Mutation_p.R17C	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	409					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTACACCATCCGTGATAGGGA	0.629000														36			11		0	0	0.004672	0	0
IPO11	51194	broad.mit.edu	37	5	61833062	61833062	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:61833062C>T	uc011cqr.2	+	23	2446	c.2316C>T	c.(2314-2316)tcC>tcT	p.S772S	IPO11_uc003jtc.3_Silent_p.S732S|IPO11_uc003jtd.1_Non-coding_Transcript	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	732						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TATGCCAGTCCTTTTGTGAAC	0.284000														30			37		0	0	0.014410	0	0
GTSE1	51512	broad.mit.edu	37	22	46724623	46724623	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr22:46724623C>T	uc011aqy.2	+	9	1975	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	GTSE1_uc011aqz.2_Missense_Mutation_p.S435F|GTSE1_uc003bhm.1_Missense_Mutation_p.S213F|GTSE1_uc003bhn.3_5'Flank|BC069212_uc011ara.2_5'Flank|BC069212_uc003bho.4_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	569					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAGACAGATTCCAGGCTGGTG	0.468000														84			25		0	0	0.010818	0	0
WDR62	284403	broad.mit.edu	37	19	36558741	36558741	+	Silent	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:36558741A>T	uc002odd.2	+	6	802	c.711A>T	c.(709-711)acA>acT	p.T237T	WDR62_uc002odc.2_Silent_p.T237T|WDR62_uc002odb.2_Silent_p.T237T	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	237					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGACGAGCACAGTGCCCCTTG	0.592000														50			14		0	0	0.006122	0	0
CPT1A	1374	broad.mit.edu	37	11	68529012	68529012	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:68529012G>A	uc001oog.4	-	15	2189	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	CPT1A_uc001oof.4_Silent_p.F673F	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	673					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTCCTTAAGGAAAGGGGACT	0.443000														112			30		0	0	0.009535	0	0
TARS2	80222	broad.mit.edu	37	1	150469026	150469026	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:150469026C>T	uc001euq.3	+	7	850	c.843C>T	c.(841-843)ttC>ttT	p.F281F	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Intron|TARS2_uc009wlt.3_Intron|TARS2_uc009wls.3_Intron	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	281					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGATTTCCTTCCCCACAACAG	0.532000														170			38		0	0	0.021022	0	0
ME1	4199	broad.mit.edu	37	6	84061792	84061792	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:84061792A>T	uc003pjy.3	-	3	694	c.429T>A	c.(427-429)gaT>gaA	p.D143E	ME1_uc011dzb.2_Missense_Mutation_p.D68E|ME1_uc011dzc.2_5'UTR	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	143					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CCTTGATGACATCTTCTGGCC	0.318000														4			3		0	0	0.009096	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581199	101581199	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:101581199G>A	uc001thz.4	-	6	1318	c.928C>T	c.(928-930)Cct>Tct	p.P310S		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	310					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTGTCCAAGGATCACAGTCA	0.438000														16			4		0	0	0.014758	0	0
NCOA2	10499	broad.mit.edu	37	8	71069449	71069449	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:71069449G>A	uc003xyn.1	-	10	1313	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	384					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	p.P384L(2)	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)			AGTCAGATCCGGATTCATCAC	0.413000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									39			14		0	0	0.004990	0	0
GPR45	11250	broad.mit.edu	37	2	105859055	105859056	+	Missense_Mutation	DNP	GG	AA	AA	rs143245552	byFrequency	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:105859055_105859056GG>AA	uc002tco.1	+	0	856_857	c.740_741GG>AA	c.(739-741)cgg>cAA	p.R247Q		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	247						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.R247W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCGGGCCTGCGGCGCCTGCAGC	0.644000														84			42		0	0	0.004672	0	0
GLRA3	8001	broad.mit.edu	37	4	175565126	175565126	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:175565126G>A	uc003ity.1	-	9	1709	c.1206C>T	c.(1204-1206)ggC>ggT	p.G402G	GLRA3_uc003itz.1_Silent_p.G387G	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	402					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GGTGGTTGGGGCCCTTTGGAG	0.498000														57			22		0	0	0.004656	0	0
IGSF10	285313	broad.mit.edu	37	3	151155254	151155254	+	Silent	SNP	T	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:151155254T>G	uc011bod.2	-	5	7095	c.7095A>C	c.(7093-7095)ccA>ccC	p.P2365P	IGSF10_uc011bob.2_Silent_p.P392P|IGSF10_uc011boc.2_Silent_p.P344P	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2365	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCAGGTGGTGGGTTACCAT	0.378000														47			26		0	0	0.007291	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79069870	79069870	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:79069870C>T	uc002bej.4	-	8	1594	c.1383G>A	c.(1381-1383)tcG>tcA	p.S461S	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.S461S	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	461					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGGTGGCACCGAGGGGAAGT	0.642000														11			3		0	0	0.004672	0	0
CILP2	148113	broad.mit.edu	37	19	19656395	19656395	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:19656395C>T	uc002nmw.4	+	7	3144	c.3059C>T	c.(3058-3060)cCc>cTc	p.P1020L	CILP2_uc002nmv.4_Missense_Mutation_p.P1014L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	1014						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCATTATGCCCCAGGGCAGC	0.697000														7			6		0	0	0.001984	0	0
KRT32	3882	broad.mit.edu	37	17	39622158	39622158	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:39622158C>T	uc002hwr.3	-	2	636	c.575G>A	c.(574-576)cGg>cAg	p.R192Q		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	192	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CACCAGCTGCCGCATGGCCAG	0.587000														80			28		0	0	0.007291	0	0
SCN3A	6328	broad.mit.edu	37	2	165994396	165994396	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:165994396C>T	uc002ucx.3	-	14	2876	c.2384G>A	c.(2383-2385)gGa>gAa	p.G795E	SCN3A_uc002ucy.3_Missense_Mutation_p.G746E|SCN3A_uc002ucz.3_Missense_Mutation_p.G746E|SCN3A_uc002uda.1_Missense_Mutation_p.G615E|SCN3A_uc002udb.1_Missense_Mutation_p.G615E	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	795						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TACCAGGTTTCCTACAGTCAA	0.398000														9			9		0	0	0.006214	0	0
SH2D1B	117157	broad.mit.edu	37	1	162368835	162368835	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:162368835C>T	uc001gbz.1	-	2	363	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	SH2D1B_uc001gca.1_Intron	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	81	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAGATCAGTTCCTTTAGGCTT	0.408000														51			35		0	0	0.005524	0	0
SNRNP200	23020	broad.mit.edu	37	2	96955567	96955567	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:96955567G>A	uc002svu.3	-	20	3042	c.2910C>T	c.(2908-2910)gtC>gtT	p.V970V		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	970						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGTCGTACTTGACCAGATTGT	0.512000														83			26		0	0	0.007291	0	0
EML1	2009	broad.mit.edu	37	14	100374016	100374016	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:100374016C>T	uc001ygr.3	+	10	1176	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	EML1_uc010avt.1_Silent_p.D337D|EML1_uc010tww.2_Silent_p.D338D|EML1_uc001ygq.3_Silent_p.D369D|EML1_uc001ygs.3_Silent_p.D350D	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	350						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ACTCCAACGACCATGTGCTCT	0.423000														55			22		0	0	0.006320	0	0
ZNF425	155054	broad.mit.edu	37	7	148802070	148802070	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:148802070C>T	uc003wfj.3	-	3	1026	c.893G>A	c.(892-894)gGg>gAg	p.G298E		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	298					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGGCCGCTCCCCGCGGTGTAG	0.667000														28			13		0	0	0.013537	0	0
CNTN4	152330	broad.mit.edu	37	3	3095505	3095505	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:3095505G>A	uc003bpc.3	+	23	3165	c.2826G>A	c.(2824-2826)tgG>tgA	p.W942*	CNTN4_uc021wsg.1_Nonsense_Mutation_p.W942*|CNTN4_uc003bpe.3_Nonsense_Mutation_p.W614*|CNTN4_uc003bpf.3_Nonsense_Mutation_p.W613*|CNTN4_uc003bpg.3_Nonsense_Mutation_p.W198*	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	942	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTACAGATGGAACAGACAAA	0.403000														37			10		0	0	0.010729	0	0
PRPF3	9129	broad.mit.edu	37	1	150305459	150305460	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:150305459_150305460CC>TT	uc001eum.4	+	5	679_680	c.517_518CC>TT	c.(517-519)cct>TTt	p.P173F	PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Missense_Mutation_p.P132F|PRPF3_uc010pcb.2_Missense_Mutation_p.P124F|PRPF3_uc009wlq.1_Non-coding_Transcript	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	173					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GCCAAAGACTCCTTCTTCCTCC	0.441000														57			36		0	0	0.004672	0	0
ROR2	4920	broad.mit.edu	37	9	94538090	94538090	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:94538090C>T	uc004arj.2	-	1	307	c.108G>A	c.(106-108)gaG>gaA	p.E36E	ROR2_uc004ari.1_5'UTR|ROR2_uc004ark.3_Silent_p.E36E	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	36					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			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						GATCCAGAACCTCCACTTCAC	0.483000											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			6		0	0	0.001984	0	0
FOXP1	27086	broad.mit.edu	37	3	71008430	71008430	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:71008430C>T	uc003dol.3	-	16	2325	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K	FOXP1_uc003dom.3_Missense_Mutation_p.E592K|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.E668K|FOXP1_uc003doo.3_Missense_Mutation_p.E667K|FOXP1_uc003dop.3_Missense_Mutation_p.E668K|FOXP1_uc021xao.1_Missense_Mutation_p.E684K|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.3_Missense_Mutation_p.E568K|FOXP1_uc003dok.3_Missense_Mutation_p.E594K|FOXP1_uc003doj.3_Missense_Mutation_p.E670K	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	668					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGTTCATCTTCGTAATCTCTG	0.478000			T	PAX5	ALL									123			40		0	0	0.014410	0	0
COL11A1	1301	broad.mit.edu	37	1	103343594	103343594	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:103343594G>A	uc001dum.3	-	66	5756	c.5438C>T	c.(5437-5439)cCt>cTt	p.P1813L	COL11A1_uc001duk.3_Missense_Mutation_p.P997L|COL11A1_uc001dul.3_Missense_Mutation_p.P1801L|COL11A1_uc001dun.3_Missense_Mutation_p.P1762L|COL11A1_uc009weh.3_Missense_Mutation_p.P1685L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1801					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)		AAAACAAACAGGACCAACTTC	0.353000														24			13		0	0	0.003163	0	0
P4HA1	5033	broad.mit.edu	37	10	74806745	74806745	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:74806745G>A	uc021ptk.1	-	6	1047	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	P4HA1_uc010qka.2_Missense_Mutation_p.R339C|P4HA1_uc001jth.3_Missense_Mutation_p.R339C|P4HA1_uc001jtg.3_Missense_Mutation_p.R339C|P4HA1_uc010qkb.2_Missense_Mutation_p.R339C|P4HA1_uc021ptj.1_Missense_Mutation_p.R339C	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	339						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATGGAAGCGAATAATACGA	0.373000														49			21		0	0	0.016522	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566602	45566602	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:45566602C>T	uc010dnv.3	-	2	1379	c.943G>A	c.(943-945)Gag>Aag	p.E315K	ZBTB7C_uc002ldb.3_Missense_Mutation_p.E293K|ZBTB7C_uc010dnu.3_Missense_Mutation_p.E302K|ZBTB7C_uc010dnw.3_Missense_Mutation_p.E293K|ZBTB7C_uc010dnx.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dny.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dnz.1_Missense_Mutation_p.E315K|ZBTB7C_uc010doi.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doj.1_Missense_Mutation_p.E302K|ZBTB7C_uc010dok.1_Missense_Mutation_p.E342K|ZBTB7C_uc010dol.1_Missense_Mutation_p.E302K|ZBTB7C_uc010doa.1_Missense_Mutation_p.E315K|ZBTB7C_uc010dob.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doc.1_Missense_Mutation_p.E302K|ZBTB7C_uc010dod.1_Missense_Mutation_p.E315K|ZBTB7C_uc010doe.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dof.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dog.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doh.1_Missense_Mutation_p.E302K|ZBTB7C_uc010dom.1_Missense_Mutation_p.E302K|ZBTB7C_uc010don.1_Missense_Mutation_p.E301K|ZBTB7C_uc010dop.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doq.1_Missense_Mutation_p.E302K|ZBTB7C_uc010dor.1_Missense_Mutation_p.E315K|ZBTB7C_uc010dos.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dot.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doo.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dou.1_Missense_Mutation_p.E302K	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	293	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCCTCCTTCTCCTCCTCCTTG	0.617000														44			16		0	0	0.004007	0	0
IGSF3	3321	broad.mit.edu	37	1	117150580	117150580	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:117150580G>A	uc001egq.1	-	4	1911	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	IGSF3_uc001egr.1_Silent_p.I402I|IGSF3_uc001egs.1_Silent_p.I75I	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	402	Ig-like C2-type 4.					integral to membrane		p.I402I(3)|p.P401P(1)|p.P401H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGAGGACTATGATGGGGATGT	0.502000														172			7		0	0	0.008291	0	0
CDH18	1016	broad.mit.edu	37	5	19473355	19473355	+	Missense_Mutation	SNP	C	T	T	rs149640304		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:19473355C>T	uc003jgd.3	-	12	2887	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.E785K|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	785					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTTCAGATTCTATTTCTCCA	0.438000														38			8		0	0	0.004482	0	0
AADAC	13	broad.mit.edu	37	3	151545698	151545698	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:151545698G>A	uc003eze.3	+	4	1028	c.938G>A	c.(937-939)gGg>gAg	p.G313E		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	313					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AAATATCCAGGGTTCCTAGAT	0.418000														30			6		0	0	0.001168	0	0
ROBO1	6091	broad.mit.edu	37	3	78656102	78656102	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:78656102G>A	uc003dqe.2	-	28	4733	c.4525C>T	c.(4525-4527)Cca>Tca	p.P1509S	ROBO1_uc003dqc.2_Missense_Mutation_p.P1409S|ROBO1_uc003dqd.2_Missense_Mutation_p.P1464S|ROBO1_uc003dqb.2_Missense_Mutation_p.P1470S|ROBO1_uc010hoh.2_Missense_Mutation_p.P701S|ROBO1_uc011bgl.1_Missense_Mutation_p.P1081S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1509					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGGAGTTTTGGCACCACTACA	0.473000														68			19		0	0	0.007413	0	0
ROS1	6098	broad.mit.edu	37	6	117709079	117709079	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:117709079G>A	uc003pxp.1	-	12	2077	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	626	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTATGTTCAAGAAAATATGAG	0.453000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									49			31		0	0	0.010818	0	0
SCAND3	114821	broad.mit.edu	37	6	28541180	28541180	+	Missense_Mutation	SNP	G	A	A	rs142639079		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:28541180G>A	uc003nlo.3	-	3	3104	c.2486C>T	c.(2485-2487)cCg>cTg	p.P829L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	829					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.P829L(2)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cttggcaaccggaagtgctac	0.403000														65			15		0	0	0.020292	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913839	39913839	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:39913839G>A	uc010xuz.2	+	17	2470	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	PLEKHG2_uc010xuy.2_Silent_p.G656G|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Silent_p.G493G	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	715					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGTTTTCTGGGAGCAATCCTG	0.592000														79			31		0	0	0.009535	0	0
KLRC2	3822	broad.mit.edu	37	12	10588420	10588420	+	Missense_Mutation	SNP	C	T	T	rs147031208		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:10588420C>T	uc001qyh.3	-	0	173	c.166G>A	c.(166-168)Gat>Aat	p.D56N	KLRC2_uc010she.1_Missense_Mutation_p.D56N|KLRC2_uc001qyk.2_Missense_Mutation_p.D56N	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	56					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.D56H(2)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TATATTTTATCAATCCCTTGA	0.343000														35			23		0	0	0.004656	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851567	14851567	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:14851567G>A	uc010dlo.2	+	35	3447	c.3267G>A	c.(3265-3267)aaG>aaA	p.K1089K	ANKRD30B_uc021uhy.1_Silent_p.K1089K|ANKRD30B_uc010xal.1_Silent_p.K231K	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1174										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGTTGAAAAAGGAAATTGCCA	0.303000														16			3		0	0	0.009096	0	0
COL16A1	1307	broad.mit.edu	37	1	32126196	32126196	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:32126196G>A	uc001btk.1	-	61	4234	c.3869C>T	c.(3868-3870)cCg>cTg	p.P1290L	COL16A1_uc001btj.1_Missense_Mutation_p.P1088L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1290	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AACGTGTCCCGGGGGACCGGG	0.527000														74			35		0	0	0.014410	0	0
NOS1	4842	broad.mit.edu	37	12	117768500	117768500	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:117768500G>A	uc001twn.2	-	1	1086	c.375C>T	c.(373-375)ccC>ccT	p.P125P	NOS1_uc001twm.2_Silent_p.P125P	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	125	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGGACCCAGGGGCTGTGTCA	0.652000														61			18		0	0	0.006122	0	0
IRF2	3660	broad.mit.edu	37	4	185309930	185309930	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:185309930G>A	uc003iwf.4	-	8	1232	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	344					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TCTTGACGCGGGCCTGGGTGA	0.527000														84			30		0	0	0.010818	0	0
ACRBP	84519	broad.mit.edu	37	12	6747518	6747518	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:6747518C>T	uc001qpu.1	-	9	1610	c.1562G>A	c.(1561-1563)gGc>gAc	p.G521D	LPAR5_uc001qps.2_5'Flank|LPAR5_uc010sff.1_Intron|ACRBP_uc001qpt.1_Non-coding_Transcript|ACRBP_uc010sfg.1_Missense_Mutation_p.G488D	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	521						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTCACTTTTGCCAGGGCTCAG	0.562000														54			22		0	0	0.014323	0	0
MORC1	27136	broad.mit.edu	37	3	108682317	108682317	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:108682317C>T	uc003dxl.3	-	26	2830	c.2743G>A	c.(2743-2745)Gat>Aat	p.D915N	MORC1_uc011bhn.2_Missense_Mutation_p.D894N	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	915					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCAGCTTATCCTCAGAGATT	0.353000														42			13		0	0	0.016723	0	0
ZNF821	55565	broad.mit.edu	37	16	71894513	71894513	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:71894513G>A	uc010vmj.2	-	6	1055	c.647C>T	c.(646-648)tCc>tTc	p.S216F	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.3_Missense_Mutation_p.S66F|ZNF821_uc002fbf.3_Missense_Mutation_p.S174F|ZNF821_uc021tlb.1_Missense_Mutation_p.S216F|ZNF821_uc021tlc.1_3'UTR|ZNF821_uc002fbh.4_Missense_Mutation_p.S174F|ZNF821_uc002fbg.4_Missense_Mutation_p.S66F	NM_001201553	NP_001188482	O75541	ZN821_HUMAN	Homo sapiens zinc finger protein 821 (ZNF821), transcript variant 2, mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						CTCAGCACTGGAGGGACCCTC	0.473000														57			30		0	0	0.009535	0	0
KIAA1377	57562	broad.mit.edu	37	11	101828931	101828931	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:101828931C>T	uc001pgm.3	+	4	809	c.539C>T	c.(538-540)tCa>tTa	p.S180L	KIAA1377_uc001pgn.3_Missense_Mutation_p.S136L|KIAA1377_uc010run.2_5'UTR|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	180							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCGCATTATCAAAAAATGAT	0.328000														162			67		0	0	0.014410	0	0
PCLO	27445	broad.mit.edu	37	7	82785576	82785576	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:82785576C>T	uc003uhx.2	-	1	670	c.381G>A	c.(379-381)ggG>ggA	p.G127G	PCLO_uc003uhv.2_Silent_p.G127G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	127					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						AAGGACTCCTCCCAGGCAATT	0.478000														62			19		0	0	0.014323	0	0
PDGFRB	5159	broad.mit.edu	37	5	149511573	149511573	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:149511573C>T	uc003lro.3	-	7	1681	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E	PDGFRB_uc010jhd.3_Silent_p.E243E	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	404					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGCTGGACCTCAGCATCCT	0.612000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									103			20		0	0	0.008871	0	0
AATF	26574	broad.mit.edu	37	17	35376338	35376339	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:35376338_35376339CC>TT	uc002hni.3	+	8	1684_1685	c.1433_1434CC>TT	c.(1432-1434)tcc>tTT	p.S478F		NM_012138	NP_036270	Q9NY61	AATF_HUMAN	Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA.	478					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				AAGACCAGCTCCTTGGATCCCA	0.436000														52			35		0	0	0.004672	0	0
SERPINB9	5272	broad.mit.edu	37	6	2900804	2900804	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:2900804G>A	uc003mug.3	-	1	163	c.42C>T	c.(40-42)cgC>cgT	p.R14R	AY927512_uc003mue.3_Non-coding_Transcript|SERPINB9_uc003muh.3_Silent_p.R14R	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	14					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TCTTTAAAAGGCGTATGGCAA	0.473000														148			88		0	0	0.014410	0	0
IGSF21	84966	broad.mit.edu	37	1	18661492	18661492	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:18661492C>T	uc001bau.2	+	3	795	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	138						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CAACATCTTCCTCAACGTCAT	0.587000														28			8		0	0	0.008291	0	0
DSPP	1834	broad.mit.edu	37	4	88534234	88534234	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:88534234C>T	uc003hqu.3	+	3	1016	c.896C>T	c.(895-897)tCa>tTa	p.S299L		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	299					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GGTCAAAATTCAGATAGTAAA	0.428000														26			12		0	0	0.010729	0	0
OR2D2	120776	broad.mit.edu	37	11	6913605	6913605	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:6913605G>A	uc010rau.2	-	0	127	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	43					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)		ATTAGAAGCAGATTTCCAAGC	0.463000														3			6		0	0	0.001168	0	0
ZFAT	57623	broad.mit.edu	37	8	135614003	135614003	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:135614003G>A	uc003yup.3	-	5	2145	c.1959C>T	c.(1957-1959)ccC>ccT	p.P653P	ZFAT_uc003yun.3_Silent_p.P641P|ZFAT_uc003yuo.3_Silent_p.P641P|ZFAT_uc010meh.3_Silent_p.P641P|ZFAT_uc010mej.3_Silent_p.P591P|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.P641P|ZFAT_uc003yur.3_Silent_p.P641P	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTCCCCTAGGGGGCTCTGGG	0.592000														62			47		0	0	0.014410	0	0
LY96	23643	broad.mit.edu	37	8	74941192	74941192	+	Splice_Site	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr8:74941192G>T	uc003yad.3	+	5	499	c.385_splice	c.e5-1	p.G129_splice	LY96_uc022awb.1_Splice_Site_p.G99_splice	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	129					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCATTTTAGGGAAAATACAAA	0.333000														27			15		2.31682e-05	2.3787e-05	0.003163	1	0
ANO2	57101	broad.mit.edu	37	12	5672572	5672572	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:5672572G>T	uc001qnm.2	-	25	2962	c.2890C>A	c.(2890-2892)Cca>Aca	p.P964T		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	969						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCACCTCCTGGGCTCCTCAGA	0.562000														6			4		2.56e-06	2.64291e-06	0.009096	1	0
KCNT2	343450	broad.mit.edu	37	1	196300353	196300353	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:196300353C>T	uc001gtd.1	-	17	2096	c.2036G>A	c.(2035-2037)gGa>gAa	p.G679E	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.G629E|KCNT2_uc001gtf.1_Missense_Mutation_p.G679E|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.G679E|KCNT2_uc001gth.1_Missense_Mutation_p.G200E	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	679						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGTGAACTTCCTATATATGG	0.323000														61			9		0	0	0.008291	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175770	140175770	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:140175770G>A	uc003lhd.2	+	0	1327	c.1221G>A	c.(1219-1221)ttG>ttA	p.L407L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.L407L|PCDHAC2_uc011czy.2_Silent_p.L407L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	421	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACTCGTTGGTGCTGGACA	0.622000														187			157		0	0	0.014410	0	0
HNRNPM	4670	broad.mit.edu	37	19	8536242	8536242	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:8536242C>T	uc010dwe.3	+	9	1008	c.928C>T	c.(928-930)Cca>Tca	p.P310S	HNRNPM_uc010dwc.1_Missense_Mutation_p.P310S|HNRNPM_uc010xke.1_Missense_Mutation_p.P271S|HNRNPM_uc010dwd.3_Missense_Mutation_p.P271S|HNRNPM_uc002mka.3_Missense_Mutation_p.P190S	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	310					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGGGTTAGGACCAGGAGGGCA	0.478000														19			28		0	0	0.010818	0	0
CRB1	23418	broad.mit.edu	37	1	197326087	197326087	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:197326087C>T	uc001gtz.3	+	4	1324	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	CRB1_uc010poz.2_Missense_Mutation_p.S303F|CRB1_uc001gty.2_Missense_Mutation_p.S372F|CRB1_uc009wza.3_Missense_Mutation_p.S260F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.S372F|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	372	EGF-like 9.				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						CTGCCTTCTTCTTTCAGCTAC	0.473000														71			14		0	0	0.004990	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175380	143175380	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:143175380C>T	uc003wdc.1	+	0	415	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	139					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GGGCTCTGTCCTGATCTCCTT	0.463000														41			13		0	0	0.020292	0	0
CD22	933	broad.mit.edu	37	19	35827096	35827096	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:35827096G>A	uc010edt.3	+	3	654	c.570G>A	c.(568-570)tcG>tcA	p.S190S	CD22_uc010edu.3_Silent_p.S190S|CD22_uc010edv.3_Silent_p.S190S|CD22_uc002nzb.4_Silent_p.S190S|CD22_uc010xst.2_Silent_p.S18S|CD22_uc010edx.3_5'Flank	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	190	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTGTCACCTCGACCTCCTTGA	0.547000														60			25		0	0	0.004656	0	0
TMC2	117532	broad.mit.edu	37	20	2604977	2604977	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr20:2604977C>T	uc002wgf.1	+	16	2256	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	TMC2_uc002wgg.1_Silent_p.F731F	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	747						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCCAACCTTCCTGGGCAAGA	0.498000														61			28		0	0	0.005443	0	0
HYDIN	54768	broad.mit.edu	37	16	70852320	70852320	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:70852320C>T	uc002ezr.3	-	83	14731	c.14580G>A	c.(14578-14580)tcG>tcA	p.S4860S	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4861										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAAGGTCACCGAGTAGGGCA	0.617000														17			7		0	0	0.008291	0	0
ACAN	176	broad.mit.edu	37	15	89384991	89384991	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr15:89384991G>A	uc010upo.1	+	4	1024	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	ACAN_uc002bmx.3_Missense_Mutation_p.R217Q|ACAN_uc010upp.1_Missense_Mutation_p.R217Q|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	217					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)			CACACTCCCCGGGAAGGCTGC	0.567000														68			23		0	0	0.004656	0	0
CYP3A43	64816	broad.mit.edu	37	7	99447251	99447251	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:99447251C>T	uc003ury.1	+	6	707	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	CYP3A43_uc003urx.1_Missense_Mutation_p.P202S|CYP3A43_uc003urz.1_Missense_Mutation_p.P202S|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Missense_Mutation_p.S64F	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	202			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TCCACAAGATCCCTTTCTGAA	0.348000														44			22		0	0	0.010504	0	0
NCAM2	4685	broad.mit.edu	37	21	22790801	22790801	+	Silent	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr21:22790801T>C	uc002yld.2	+	10	1641	c.1392T>C	c.(1390-1392)ccT>ccC	p.P464P	NCAM2_uc011acb.2_Silent_p.P322P	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	464	Ig-like C2-type 5.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGATTGCACCTACATCTGACA	0.323000														82			26		0	0	0.010818	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310133	57310133	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:57310133G>A	uc021qjh.1	+	0	20	c.18G>A	c.(16-18)ggG>ggA	p.G6G		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	6										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AGAAGGAAGGGAAGCTCTCTG	0.597000														26			6		0	0	0.001984	0	0
ADH1C	126	broad.mit.edu	37	4	100266412	100266412	+	RNA	SNP	T	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:100266412T>A	uc021xqi.1	-	3		c.356A>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AAGAGCGGGATGACTTTATCA	0.343000														11			5		0	0	0.001984	0	0
UNC13B	10497	broad.mit.edu	37	9	35310610	35310610	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:35310610C>T	uc003zwr.3	+	8	1200	c.908C>T	c.(907-909)tCc>tTc	p.S303F	UNC13B_uc010mkl.1_Missense_Mutation_p.S303F|UNC13B_uc003zwq.3_Missense_Mutation_p.S303F	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	303					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CACAGCCTGTCCAGAGATGGC	0.507000														45			12		0	0	0.016723	0	0
SRGN	5552	broad.mit.edu	37	10	70863760	70863760	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:70863760C>T	uc001joz.3	+	2	447	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	SRGN_uc021prx.1_Nonsense_Mutation_p.Q65*	NM_002727	NP_002718	P10124	SRGN_HUMAN	Homo sapiens serglycin (SRGN), transcript variant 1, mRNA.	121					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						ACAGGATTACCAACTAGTAGA	0.512000														34			10		0	0	0.008291	0	0
C16orf70	80262	broad.mit.edu	37	16	67168101	67168101	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:67168101C>T	uc002erd.3	+	6	645	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	C16orf70_uc002erc.3_Nonsense_Mutation_p.Q161*|C16orf70_uc002ere.1_Nonsense_Mutation_p.Q236*	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	161										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GGCTTCTCTCCAGATACCCCA	0.483000														72			28		0	0	0.008361	0	0
RIPK3	11035	broad.mit.edu	37	14	24808773	24808773	+	Silent	SNP	G	A	A	rs140844433		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:24808773G>A	uc001wpb.3	-	1	261	c.51C>T	c.(49-51)tcC>tcT	p.S17S	RIPK3_uc001wpa.3_5'Flank|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_5'UTR|RIPK3_uc010toj.1_Silent_p.S17S	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	17					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GTTCCTCGATGGACACCAAGG	0.677000														79			32		0	0	0.019004	0	0
PAX4	5078	broad.mit.edu	37	7	127253582	127253582	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:127253582G>A	uc010lld.1	-	4	749	c.543C>T	c.(541-543)ttC>ttT	p.F181F	PAX4_uc003vmf.2_Silent_p.F179F|PAX4_uc003vmg.1_Silent_p.F181F|PAX4_uc003vmh.3_Silent_p.F179F	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	189					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E180K(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCCACGCTGGAACTCTGCGG	0.587000														46			25		0	0	0.018920	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561656	145561656	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:145561656G>A	uc001eob.1	+	9	1452	c.1344G>A	c.(1342-1344)ggG>ggA	p.G448G	ANKRD35_uc010oyx.1_Silent_p.G291G	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	448										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTACCAATGGGGCACAGACCT	0.572000														62			55		0	0	0.014410	0	0
HTRA1	5654	broad.mit.edu	37	10	124249077	124249077	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:124249077T>C	uc001lgj.2	+	2	840	c.712T>C	c.(712-714)Tac>Cac	p.Y238H		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	238	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CGGTGCCACTTACGAAGCCAA	0.498000														46			23		0	0	0.014323	0	0
CASP1	834	broad.mit.edu	37	11	104900534	104900535	+	Missense_Mutation	DNP	CC	TT	TT	rs45617533	byFrequency	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:104900534_104900535CC>TT	uc001pim.4	-	5	719_720	c.719_720GG>AA	c.(718-720)cgg>cAA	p.R240Q	CASP1_uc001pig.3_Missense_Mutation_p.R147Q|CASP1_uc021qpq.1_Missense_Mutation_p.R219Q|CASP1_uc021qpr.1_Missense_Mutation_p.R147Q|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Missense_Mutation_p.R240Q|CASP1_uc021qpt.1_Missense_Mutation_p.R147Q|CASP1_uc010rve.2_Missense_Mutation_p.R240Q|CASP1_uc010rvf.2_Missense_Mutation_p.R147Q|CASP1_uc010rvg.2_Missense_Mutation_p.R219Q|CASP1_uc010rvh.2_Missense_Mutation_p.R147Q|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Missense_Mutation_p.R219Q|CASP1_uc021qpu.1_Missense_Mutation_p.R147Q|CASP1_uc021qpv.1_Missense_Mutation_p.R219Q|CASP1_uc021qpw.1_Missense_Mutation_p.R147Q|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Missense_Mutation_p.R240Q|CASP1_uc009yxj.3_Missense_Mutation_p.R85Q|CASP1_uc010rvk.2_Missense_Mutation_p.R201Q	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	240					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AAATGCCTTCCCGAATACCATG	0.465000														32			12		0	0	0.004672	0	0
SALL1	6299	broad.mit.edu	37	16	51175386	51175386	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:51175386C>T	uc021tif.1	-	1	778	c.456G>A	c.(454-456)caG>caA	p.Q152Q	SALL1_uc021tid.1_Silent_p.Q152Q|SALL1_uc021tie.1_Silent_p.Q249Q|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	249	Poly-Ser.				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 Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin 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)			GGTGACGAATCTGTTCGATCA	0.537000														67			32		0	0	0.013726	0	0
KLHL1	57626	broad.mit.edu	37	13	70293603	70293603	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr13:70293603C>T	uc001vip.3	-	8	2707	c.1913G>A	c.(1912-1914)gGg>gAg	p.G638E	KLHL1_uc010thm.2_Missense_Mutation_p.G577E	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	638					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCGACACCCCCTCTCCTCTT	0.458000														13			5		0	0	0.001168	0	0
HTR3E	285242	broad.mit.edu	37	3	183823660	183823660	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:183823660G>A	uc010hxr.3	+	4	1100	c.906G>A	c.(904-906)ggG>ggA	p.G302G	HTR3E_uc010hxq.3_Silent_p.G276G|HTR3E_uc003fml.4_Silent_p.G261G|HTR3E_uc003fmm.3_Silent_p.G291G|HTR3E_uc003fmn.3_Silent_p.G276G	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	276						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGAAAAGTGGGAATCGTGTCC	0.552000														93			23		0	0	0.014323	0	0
OR4M1	441670	broad.mit.edu	37	14	20248616	20248616	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:20248616C>T	uc010tku.2	+	0	135	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATCCTTATCATTTGCACCA	0.433000														134			29		0	0	0.008361	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938061	116938061	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:116938061C>T	uc003pxe.2	+	0	420	c.275C>T	c.(274-276)tCc>tTc	p.S92F	RSPH4A_uc010kee.2_Missense_Mutation_p.S92F	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	92					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGCCCTCTTCCTCTCCTTCT	0.632000									Kartagener syndrome					36			15		0	0	0.003163	0	0
ZNF239	8187	broad.mit.edu	37	10	44052335	44052335	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:44052335G>A	uc001jaw.4	-	1	1846	c.1193C>T	c.(1192-1194)aCt>aTt	p.T398I	ZNF239_uc001jax.4_Missense_Mutation_p.T398I|ZNF239_uc009xmj.3_Missense_Mutation_p.T398I|ZNF239_uc009xmk.3_Missense_Mutation_p.T398I|ZNF239_uc021pph.1_Missense_Mutation_p.T398I	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTTCTCTCCAGTGTGGACTCT	0.522000														19			6		0	0	0.001984	0	0
PIGL	9487	broad.mit.edu	37	17	16120544	16120544	+	Missense_Mutation	SNP	G	A	A	rs150000731		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:16120544G>A	uc002gpv.3	+	0	36	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	NCOR1_uc002gpo.3_5'Flank|PIGL_uc010vwd.2_Missense_Mutation_p.E2K|NCOR1_uc002gps.2_5'Flank|NCOR1_uc010cpb.2_5'Flank|NCOR1_uc010coz.2_5'Flank|NCOR1_uc010cpa.2_5'Flank|NCOR1_uc002gpu.3_5'Flank	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class L (PIGL), mRNA.	2					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		ACCCATCATGGAAGCAATGTG	0.587000														25			17		0	0	0.004990	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088540	65088540	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:65088540C>T	uc021qli.1	+	0	171	c.171C>T	c.(169-171)ttC>ttT	p.F57F	CDC42EP2_uc001odl.3_Silent_p.F57F	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	57					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						ACATCTCCTTCCTGCAGGGCA	0.627000														62			23		0	0	0.004656	0	0
PPYR1	5540	broad.mit.edu	37	10	47086923	47086923	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:47086923C>T	uc001jee.3	+	2	559	c.140C>T	c.(139-141)tCc>tTc	p.S47F	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.S47F|PPYR1_uc021ppu.1_Missense_Mutation_p.S47F	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	47					blood circulation|digestion|feeding behavior	integral to plasma membrane		p.S47F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATCGTCACTTCCTACAGCATT	0.522000														231			22		0	0	0.014323	0	0
SCNN1B	6338	broad.mit.edu	37	16	23382719	23382719	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:23382719C>T	uc002dln.3	+	5	1156	c.980C>T	c.(979-981)cCc>cTc	p.P327L		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	327					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGGTCATACCCCTTCATCAGA	0.602000														24			8		0	0	0.006214	0	0
MKI67	4288	broad.mit.edu	37	10	129903931	129903932	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:129903931_129903932CC>TT	uc001lke.3	-	12	6367_6368	c.6172_6173GG>AA	c.(6172-6174)ggg>AAg	p.G2058K	MKI67_uc001lkf.3_Missense_Mutation_p.G1698K|MKI67_uc009yav.1_Missense_Mutation_p.G1633K|MKI67_uc009yaw.1_Missense_Mutation_p.G1208K	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2058	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.G2058W(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTCTCCATCCCAGTTCCATAG	0.515000														189			74		0	0	0.004672	0	0
ZNF556	80032	broad.mit.edu	37	19	2877344	2877344	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr19:2877344C>T	uc002lwp.1	+	3	475	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZNF556_uc002lwq.3_Nonsense_Mutation_p.R129*	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CAGAAAGACTCGAAATTGTAA	0.408000														17			20		0	0	0.007413	0	0
OR4E2	26686	broad.mit.edu	37	14	22134166	22134166	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:22134166G>A	uc010tmd.2	+	0	870	c.870G>A	c.(868-870)agG>agA	p.R290R		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	290					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)		ACACCTTGAGGAATGAGGAGG	0.448000														16			6		0	0	0.001984	0	0
CD2BP2	10421	broad.mit.edu	37	16	30364855	30364855	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:30364855G>A	uc002dxr.3	-	3	895	c.642C>T	c.(640-642)aaC>aaT	p.N214N	CD2BP2_uc002dxs.3_Silent_p.N214N	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	214					assembly of spliceosomal tri-snRNP	U5 snRNP|cytoplasm|nucleoplasm	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						ACACACCAAGGTTGCCCCGGG	0.642000														45			17		0	0	0.010504	0	0
CFB	629	broad.mit.edu	37	6	31914340	31914340	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:31914340G>A	uc003nyj.4	+	1	533	c.255G>A	c.(253-255)ctG>ctA	p.L85L	CFB_uc011dor.2_Silent_p.L587L|CFB_uc011dos.1_Silent_p.L85L|CFB_uc003nyi.2_Silent_p.L85L	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	85	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGAGCACCCTGAAGACTCAAG	0.582000														345			87		0	0	0.014410	0	0
ACSM5	54988	broad.mit.edu	37	16	20448599	20448599	+	Silent	SNP	C	T	T	rs9652590	byFrequency	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr16:20448599C>T	uc002dhe.3	+	11	1593	c.1446C>T	c.(1444-1446)atC>atT	p.I482I		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	482					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTACCGGATCGGGCCTGTTG	0.552000														64			23		0	0	0.021523	0	0
C2orf16	84226	broad.mit.edu	37	2	27803944	27803944	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:27803944A>G	uc002rkz.4	+	0	4556	c.4505A>G	c.(4504-4506)aAc>aGc	p.N1502S	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1502										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGTCTAAGAACTTGTCCACA	0.483000														62			25		0	0	0.005443	0	0
OR2A14	135941	broad.mit.edu	37	7	143827081	143827081	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:143827081G>A	uc011kua.2	+	0	876	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ATAGCCTAAGGAATGCAGAGG	0.557000														192			51		0	0	0.014410	0	0
STOX2	56977	broad.mit.edu	37	4	184931088	184931088	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:184931088C>T	uc003ivz.1	+	2	2532	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	STOX2_uc003iwa.1_Missense_Mutation_p.S55F	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	366					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CATCGGAAGTCCCATGGAAAG	0.502000														19			4		0	0	0.014758	0	0
COL4A3	1285	broad.mit.edu	37	2	228137729	228137729	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr2:228137729G>A	uc002vom.2	+	25	1985	c.1823G>A	c.(1822-1824)gGa>gAa	p.G608E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	608	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G608G(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGTCCCCAGGACCTGCAGGA	0.617000														40			19		0	0	0.007413	0	0
C4orf51	646603	broad.mit.edu	37	4	146651099	146651099	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:146651099G>A	uc003ikk.3	+	4	483	c.483G>A	c.(481-483)ggG>ggA	p.G161G		NM_001080531	NP_001074000	C9J302	CD051_HUMAN	Homo sapiens chromosome 4 open reading frame 51 (C4orf51), mRNA.	161										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						GTCGACGAGGGAAAGGTGTCC	0.483000														66			17		0	0	0.004990	0	0
TMEM89	440955	broad.mit.edu	37	3	48659027	48659027	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:48659027G>A	uc011bbo.2	-	0	163	c.163C>T	c.(163-165)Cct>Tct	p.P55S		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	Homo sapiens transmembrane protein 89 (TMEM89), mRNA.	55						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CAGTAGCCAGGACAGCTCAGG	0.642000														37			10		0	0	0.010729	0	0
SORCS3	22986	broad.mit.edu	37	10	106974211	106974211	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:106974211T>C	uc001kyi.1	+	17	2614	c.2387T>C	c.(2386-2388)aTt>aCt	p.I796T	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	796						integral to membrane	neuropeptide receptor activity	p.R795R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATCGGCGGATTGTGTCCAAC	0.493000														51			19		0	0	0.012319	0	0
ROBO2	6092	broad.mit.edu	37	3	75986676	75986676	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:75986676G>A	uc021xat.1	+	0	32	c.32G>A	c.(31-33)aGg>aAg	p.R11K		NM_001128929	NP_001122401	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 1, mRNA.	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTCACTAGAAGGATGTGGACA	0.438000														15			3		0	0	0.009096	0	0
OR1N2	138882	broad.mit.edu	37	9	125316346	125316346	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:125316346C>T	uc011lyx.2	+	0	898	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GGTGATTATTCCCACGCTAAA	0.398000														35			12		0	0	0.016723	0	0
HDGF	3068	broad.mit.edu	37	1	156714925	156714925	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:156714925G>A	uc001fpy.4	-	2	500	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	HDGF_uc009wsd.3_Missense_Mutation_p.P28S|HDGF_uc001fpz.4_Missense_Mutation_p.P53S|HDGF_uc009wse.3_Missense_Mutation_p.P76S|HDGF_uc010phr.2_Missense_Mutation_p.P76S|HDGF_uc009wsf.3_Missense_Mutation_p.P28S	NM_004494	NP_004485	P51858	HDGF_HUMAN	Homo sapiens hepatoma-derived growth factor (HDGF), transcript variant 1, mRNA.	60	PWWP.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	p.G59C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		AGGTCTTTGGGGCCCAGGAAT	0.587000														33			26		0	0	0.005443	0	0
GRM2	2912	broad.mit.edu	37	3	51743182	51743182	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:51743182C>T	uc010hlv.3	+	1	422	c.183C>T	c.(181-183)cgC>cgT	p.R61R	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	61					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCATCCAGCGCCTGGAGGCCA	0.637000														68			30		0	0	0.008361	0	0
GSG1	83445	broad.mit.edu	37	12	13238026	13238026	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:13238026G>A	uc001rbn.3	-	6	1082	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	GSG1_uc001rbl.3_Missense_Mutation_p.R236W|GSG1_uc001rbj.3_Missense_Mutation_p.R264W|GSG1_uc001rbk.3_3'UTR|GSG1_uc001rbm.3_Missense_Mutation_p.R213W|GSG1_uc001rbo.3_3'UTR|GSG1_uc001rbp.3_Missense_Mutation_p.R277W|GSG1_uc001rbq.2_Intron	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA.	287						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GACAGCCGCCGAGGGAAACAC	0.532000														15			7		0	0	0.003080	0	0
SAMD3	154075	broad.mit.edu	37	6	130505278	130505278	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:130505278G>A	uc003qbw.3	-	6	952	c.624C>T	c.(622-624)caC>caT	p.H208H	SAMD3_uc003qbx.3_Silent_p.H208H|SAMD3_uc010kfg.1_Silent_p.H208H|SAMD3_uc003qby.3_Silent_p.H208H|SAMD3_uc003qbz.1_Silent_p.H167H	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	208										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CCAGGAAAGGGTGGGCCTGCA	0.483000														29			13		0	0	0.004007	0	0
DSC1	1823	broad.mit.edu	37	18	28711631	28711631	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr18:28711631C>T	uc002kwn.3	-	14	2675	c.2413G>A	c.(2413-2415)Gga>Aga	p.G805R	DSC1_uc002kwm.3_Missense_Mutation_p.G805R|BC042382_uc002kwo.1_Non-coding_Transcript	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	805					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.K804K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGCCCCACTCCCTTGACGGAC	0.507000														30			5		0	0	0.014758	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85517940	85517940	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:85517940G>A	uc001tac.3	+	16	3761	c.3650G>A	c.(3649-3651)cGa>cAa	p.R1217Q	LRRIQ1_uc021rbo.1_Missense_Mutation_p.R1095Q	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1217										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCACACGAACGAGGGGATGTA	0.388000														40			14		0	0	0.016723	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229539	8229539	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:8229539C>T	uc003gkv.4	+	11	2219	c.2118C>T	c.(2116-2118)ctC>ctT	p.L706L	SH3TC1_uc003gkw.4_Silent_p.L630L|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	706							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCGCGTGGCTCTCAGACTGCT	0.652000														52			18		0	0	0.006122	0	0
X97876	0	broad.mit.edu	37	9	66499716	66499716	+	Missense_Mutation	SNP	A	G	G	rs141617852	by1000genomes	TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:66499716A>G	uc004aee.1	+	0	526	c.526A>G	c.(526-528)Aat>Gat	p.N176D	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CCTGGAGCCCAATCTGCTGGA	0.607000														69			8		0	0	0.008291	0	0
FAAH2	158584	broad.mit.edu	37	X	57337090	57337090	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chrX:57337090G>A	uc004dvc.3	+	2	489	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	114						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GCAGGAAGATGAAGCCACCCT	0.408000										HNSCC(52;0.14)				4			3		0	0	0.004672	0	0
MUC5B	727897	broad.mit.edu	37	11	1263670	1263670	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:1263670G>A	uc001lta.3	+	30	5619	c.5560G>A	c.(5560-5562)Ggg>Agg	p.G1854R		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1854	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGAGACGGGGCTGACCTG	0.592000														36			12		0	0	0.010729	0	0
CACNA1E	777	broad.mit.edu	37	1	181767540	181767540	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:181767540C>T	uc009wxt.3	+	47	6707	c.6512C>T	c.(6511-6513)tCc>tTc	p.S2171F	CACNA1E_uc001gow.3_Missense_Mutation_p.S2128F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S2109F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2171					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P2171P(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCCTCCTTTCCTACAGCTCC	0.622000														111			28		0	0	0.007291	0	0
CBLB	868	broad.mit.edu	37	3	105378047	105378048	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:105378047_105378048GG>AA	uc003dwc.3	-	18	3037_3038	c.2715_2716CC>TT	c.(2713-2718)ccccct>ccTTct	p.P906S	CBLB_uc003dwa.3_Missense_Mutation_p.P121S|CBLB_uc011bhi.2_Missense_Mutation_p.P884S	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	906	Interaction with SH3KBP1.|Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CGTGGTTTAGGGGGTCTGGCTG	0.431000			Mis S		AML									25			5		0	0	0.004672	0	0
ZNF518A	9849	broad.mit.edu	37	10	97919527	97919527	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:97919527C>T	uc001klp.3	+	5	4305	c.3448C>T	c.(3448-3450)Cct>Tct	p.P1150S	ZNF518A_uc001klo.1_Missense_Mutation_p.P620S|ZNF518A_uc001klq.3_Missense_Mutation_p.P1150S|ZNF518A_uc001klr.3_Missense_Mutation_p.P1150S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	1150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AATTTTTAACCCTGTTTTAAA	0.358000														56			13		0	0	0.016723	0	0
FMO3	2328	broad.mit.edu	37	1	171079999	171079999	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:171079999C>T	uc001ghi.3	+	5	799	c.688C>T	c.(688-690)Cct>Tct	p.P230S	FMO3_uc001ghh.3_Missense_Mutation_p.P230S|FMO3_uc010pmb.2_Missense_Mutation_p.P210S|FMO3_uc010pmc.2_Missense_Mutation_p.P167S	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	230					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAATGGTTATCCTTGGGACAT	0.463000														32			25		0	0	0.006320	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558435	53558435	+	Silent	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr1:53558435G>A	uc021onn.1	-	6	990	c.822C>T	c.(820-822)ttC>ttT	p.F274F	SLC1A7_uc021onm.1_Silent_p.F202F|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Silent_p.F274F|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	274						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCGCAATGAGGAACACAATGC	0.667000														63			23		0	0	0.018920	0	0
OR2A25	392138	broad.mit.edu	37	7	143771818	143771818	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:143771818G>A	uc011ktx.2	+	0	506	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCCTTCTGTGGACCCCAGAAA	0.448000														127			69		0	0	0.014410	0	0
ADAM20	8748	broad.mit.edu	37	14	70991342	70991342	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:70991342G>A	uc021rvs.1	-	0	283	c.283C>T	c.(283-285)Cct>Tct	p.P95S	ADAM20_uc001xme.3_Missense_Mutation_p.P95S	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	45					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACCTTCAAAGGGATCACCACT	0.532000														10			7		0	0	0.004482	0	0
MMRN1	22915	broad.mit.edu	37	4	90830522	90830522	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr4:90830522G>A	uc003hst.3	+	1	790	c.719G>A	c.(718-720)tGg>tAg	p.W240*	MMRN1_uc010iku.3_Nonsense_Mutation_p.W206*|MMRN1_uc011cds.2_5'UTR	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	240	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CCTTGTGGCTGGACCGGTGGA	0.413000														1			2		0	0	0.004672	0	0
MEGF9	1955	broad.mit.edu	37	9	123367702	123367702	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:123367702C>T	uc004bkj.2	-	7	1839	c.1686G>A	c.(1684-1686)gtG>gtA	p.V562V	MEGF9_uc022bms.1_Silent_p.V525V	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	Homo sapiens multiple EGF-like-domains 9 (MEGF9), mRNA.	525						integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TTAGCAGCACCACAACAATGA	0.428000														59			22		0	0	0.014323	0	0
IRF4	3662	broad.mit.edu	37	6	401488	401488	+	Silent	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:401488C>T	uc003msz.4	+	6	936	c.810C>T	c.(808-810)agC>agT	p.S270S	IRF4_uc010jne.2_Silent_p.S270S|IRF4_uc003mtb.4_Silent_p.S269S|IRF4_uc021ykl.1_Silent_p.S116S|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Silent_p.S100S	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	270					T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCACGTCCAGCCCCGAGGGCT	0.602000			T	IGH@	MM									59			10		0	0	0.008291	0	0
ACTB	60	broad.mit.edu	37	7	5567919	5567920	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:5567919_5567920GG>AC	uc003sot.4	-	3	878_879	c.794_795CC>GT	c.(793-795)tcc>tGT	p.S265C	ACTB_uc003sor.4_Missense_Mutation_p.S143C|ACTB_uc003soq.4_Missense_Mutation_p.S143C	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	265					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CACCCAGGAAGGAAGGCTGGAA	0.609000														63			26		0	0	0.004672	0	0
DBF4B	80174	broad.mit.edu	37	17	42828202	42828202	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:42828202C>T	uc002ihf.3	+	13	1642	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	477					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GCCCCTCCATCCCTCCCAAGA	0.607000														69			41		0	0	0.010771	0	0
RAD17	5884	broad.mit.edu	37	5	68689179	68689179	+	Splice_Site	SNP	A	T	T			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr5:68689179A>T	uc003jwo.3	+	12	1371	c.1309_splice	c.e12-2	p.E437_splice	RAD17_uc003jwg.3_Splice_Site_p.E426_splice|RAD17_uc003jwi.3_Splice_Site_p.E426_splice|RAD17_uc003jwh.3_Splice_Site_p.E426_splice|RAD17_uc003jwj.3_Splice_Site_p.E426_splice|RAD17_uc003jwk.3_Splice_Site_p.E426_splice|RAD17_uc003jwl.3_Splice_Site_p.E426_splice|RAD17_uc003jwm.3_Splice_Site_p.E261_splice|RAD17_uc003jwn.3_Splice_Site_p.E340_splice	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	437	Interaction with MCM7.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTCTTTTTATAGGAGGTAGTA	0.294000								Other conserved DNA damage response genes						45			14		0	0	0.004007	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461137	48461137	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:48461137delT	uc003csw.2	-	10	2828	c.2558delA	c.(2557-2559)gacfs	p.D853fs	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Frame_Shift_Del_p.D853fs|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	853					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGTCCACTCGTCCGCCTCGGG	0.682													---	17	---	---	11	---					
CPN2	1370	broad.mit.edu	37	3	194062271	194062276	+	In_Frame_Del	DEL	CAGGTT	-	-			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr3:194062271_194062276delCAGGTT	uc003fts.3	-	1	1246_1251	c.1156_1161delAACCTG	c.(1156-1161)aacctgdel	p.NL386del	CPN2_uc021xix.1_In_Frame_Del_p.NL386del	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	386					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCAGGTTGAACAGGTTGTAGTTGGTG	0.597													---	60	---	---	13	---					
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	-	-			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:42897358_42897360delTGC	uc003ota.4	+	0	499_501	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_uc003osy.2_Non-coding_Transcript|CNPY3_uc003otb.4_5'UTR	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	Homo sapiens canopy 3 homolog (zebrafish) (CNPY3), mRNA.	17					innate immune response	endoplasmic reticulum		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695													---	4	---	---	2	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	-	-	rs60664426		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr6:42989414_42989419delGCCGGG	uc003otp.1	+	0	30_35	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	14					rRNA processing|ribosomal small subunit biogenesis	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													---	5	---	---	3	---					
CDK5	1020	broad.mit.edu	37	7	150754217	150754217	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr7:150754217delT	uc003wir.2	-	1	185	c.68delA	c.(67-69)aacfs	p.N23fs	CDK5_uc022apy.1_5'Flank|CDK5_uc003wis.2_Frame_Shift_Del_p.N23fs|SLC4A2_uc022apz.1_5'Flank|SLC4A2_uc003wit.4_5'Flank	NM_004935	NP_004926	Q00535	CDK5_HUMAN	Homo sapiens cyclin-dependent kinase 5 (CDK5), transcript variant 1, mRNA.	23	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	ATP binding|ErbB-2 class receptor binding|ErbB-3 class receptor binding|acetylcholine receptor activator activity|cyclin-dependent protein kinase activity|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		AGTCTCCCGGTTTTTGGCCTT	0.582													---	355	---	---	7	---					
ZBTB34	403341	broad.mit.edu	37	9	129642541	129642541	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr9:129642541delC	uc022bnn.1	+	0	851	c.851delC	c.(850-852)tccfs	p.S284fs	ZBTB34_uc004bqm.4_Frame_Shift_Del_p.S284fs	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CACGCATACTCCTATTCCCAA	0.522													---	44	---	---	17	---					
LOC650623	650623	broad.mit.edu	37	10	81443226	81443226	+	RNA	DEL	A	-	-	rs3832674		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr10:81443226delA	uc010qlu.2	+	0		c.496delA								Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA.																		CTGTGGCAGCACTGGGGCAGC	0.537													---	9	---	---	5	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	-	-			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:43283606delA	uc001mxe.1	-	1		c.1330delT								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		AAGCAAATGTAAAAAAAAAAA	0.388													---	9	---	---	4	---					
SNX32	254122	broad.mit.edu	37	11	65617683	65617684	+	Frame_Shift_Ins	INS	-	A	A	rs143066310		TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr11:65617683_65617684insA	uc001ofr.3	+	3	442_443	c.315_316insA	c.(313-318)ggcgagfs	p.G105fs	SNX32_uc009yqt.3_3'UTR|SNX32_uc010rop.1_Frame_Shift_Ins_p.A145fs	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	105	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AGAAATTGGGCGAGGGGGACAG	0.599													---	67	---	---	26	---					
AMIGO2	347902	broad.mit.edu	37	12	47471738	47471753	+	Frame_Shift_Del	DEL	TAACCAGACTTCCATT	-	-			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr12:47471738_47471753delTAACCAGACTTCCATT	uc001rpm.3	-	2	1688_1703	c.1033_1048delAATGGAAGTCTGGTTA	c.(1033-1050)aatggaagtctggttatafs	p.N345fs	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Frame_Shift_Del_p.N345fs|AMIGO2_uc001rpl.3_Frame_Shift_Del_p.N345fs|AMIGO2_uc021qxg.1_Frame_Shift_Del_p.N345fs	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	345	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GGGCTTTCTATAACCAGACTTCCATTGTGAAACACG	0.421													---	86	---	---	14	---					
TEP1	7011	broad.mit.edu	37	14	20854287	20854287	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:20854287delA	uc001vxe.3	-	19	2969	c.2929delT	c.(2929-2931)tatfs	p.Y977fs	TEP1_uc010ahk.3_Frame_Shift_Del_p.Y327fs|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Frame_Shift_Del_p.Y869fs	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	977					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATGTATCCATAACGGGAGCCC	0.552													---	114	---	---	38	---					
abParts	0	broad.mit.edu	37	14	106725714	106725715	+	RNA	INS	-	G	G			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr14:106725714_106725715insG	uc021ser.1	-	925		c.21900_21901insC								Parts of antibodies, mostly variable regions.																		ATCCCAGGGCTGGGCTCCTCTC	0.500													---	83	---	---	9	---					
SUPT6H	6830	broad.mit.edu	37	17	27002005	27002006	+	Frame_Shift_Ins	INS	-	A	A			TCGA-D9-A1JW-06A-11D-A19A-08	TCGA-D9-A1JW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c8fb207-38ca-4eb4-b494-42fb039cd116	08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f	g.chr17:27002005_27002006insA	uc010crt.3	+	5	555_556	c.363_364insA	c.(361-366)gtcaaafs	p.V121fs	SUPT6H_uc002hby.3_Frame_Shift_Ins_p.V121fs	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	121	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACCGGCGTGTCAAAAAAATGTC	0.485													---	55	---	---	43	---