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
GCNT1	2650	broad.mit.edu	37	9	79117829	79117829	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:79117829G>T	uc022bif.1	+	0	532	c.532G>T	c.(532-534)Gtg>Ttg	p.V178L	GCNT1_uc010mpf.3_Missense_Mutation_p.V178L|GCNT1_uc010mpg.3_Missense_Mutation_p.V178L|GCNT1_uc010mph.3_Missense_Mutation_p.V178L|GCNT1_uc004akf.4_Missense_Mutation_p.V178L|GCNT1_uc010mpi.3_Missense_Mutation_p.V178L|GCNT1_uc004akh.4_Missense_Mutation_p.V178L	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	178	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TAATGTCTTTGTGGCCAGCCG	0.463000														74			29		9.78306e-22	2.11868e-21	0.001786	1	0
ATP13A5	344905	broad.mit.edu	37	3	193051540	193051540	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:193051540C>T	uc011bsq.2	-	11	1272	c.1272_splice	c.e11+1	p.G424_splice		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	424					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGTACTTACTCCATGGTACAT	0.428000														76			10		0	0	0.000443	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45127331	45127331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:45127331C>T	uc010wkj.1	+	1	883	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1313						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AACTCGCTCCCGCATGACCCA	0.418000														734			47		0	0	0.003610	0	0
PSG8	440533	broad.mit.edu	37	19	43262407	43262407	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:43262407G>A	uc002ouo.2	-	2	554	c.456C>T	c.(454-456)tcC>tcT	p.S152S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Silent_p.S152S|PSG8_uc010ein.3_Silent_p.S30S|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	152	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTTGCTGCTGGAGATGGAGG	0.512000														165			37		0	0	0.001706	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072523	17072523	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:17072523C>T	uc002zlp.1	-	0	1178	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	306					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)				ACTTGTCCGCCAGTGTGAGGG	0.527000														245			41		0	0	0.003610	0	0
MEPE	56955	broad.mit.edu	37	4	88766630	88766630	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:88766630C>T	uc021xpx.1	+	3	715	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	MEPE_uc021xpu.1_Nonsense_Mutation_p.Q204*|MEPE_uc021xpv.1_Nonsense_Mutation_p.Q91*|MEPE_uc021xpw.1_Nonsense_Mutation_p.Q91*|MEPE_uc010ikn.3_Nonsense_Mutation_p.Q91*|MEPE_uc003hqy.3_Nonsense_Mutation_p.Q204*|MEPE_uc021xpy.1_Nonsense_Mutation_p.Q91*	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	204					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TTCCCAAGCCCAGAAAAGTCC	0.378000														64			17		0	0	0.000958	0	0
DSP	1832	broad.mit.edu	37	6	7580796	7580796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:7580796G>A	uc003mxp.1	+	22	4652	c.4373G>A	c.(4372-4374)cGa>cAa	p.R1458Q	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1458	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACTCAGATGCGAACAGAGGAG	0.463000														59			8		0	0	0.004482	0	0
ATP8B2	57198	broad.mit.edu	37	1	154315295	154315295	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:154315295C>T	uc001fex.3	+	14	1410	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	456					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGACTTCTCCTTCAATCCTC	0.557000														66			17		0	0	0.001216	0	0
KCNK10	54207	broad.mit.edu	37	14	88789097	88789097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:88789097G>A	uc001xwn.3	-	0	497	c.46C>T	c.(46-48)Cct>Tct	p.P16S	KCNK10_uc001xwo.3_Intron	NM_138317	NP_612190	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 2, mRNA.	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.P16S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCACCTTTAGGATCCCAGTTC	0.502000														72			10		0	0	0.001855	0	0
COL18A1	80781	broad.mit.edu	37	21	46900753	46900753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:46900753C>T	uc002zhi.3	+	11	2153	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	COL18A1_uc002zhg.3_Missense_Mutation_p.P531L	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	946	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGGGTCCCCCCGGGTTTCCT	0.711000														16			5		0	0	0.001168	0	0
NRXN3	9369	broad.mit.edu	37	14	79454427	79454427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:79454427G>A	uc001xun.3	+	11	2577	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.E821K	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCAACAATGGGAGGGCTTCAC	0.448000														59			12		0	0	0.001368	0	0
FBN3	84467	broad.mit.edu	37	19	8151976	8151976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:8151976C>T	uc002mjf.3	-	52	6756	c.6739G>A	c.(6739-6741)Ggg>Agg	p.G2247R	FBN3_uc002mje.3_Missense_Mutation_p.G86R	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2247	EGF-like 36; 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						CAGCCCTCCCCAGAGCCAGGC	0.642000														35			11		0	0	0.000673	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517171	140517171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140517171G>A	uc003liq.3	+	0	2372	c.2155G>A	c.(2155-2157)Gcc>Acc	p.A719T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	719					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.A718V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCAGGGCGGCCTCGGTCGG	0.657000														156			34		0	0	0.003755	0	0
CLEC12A	160364	broad.mit.edu	37	12	10124234	10124234	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:10124234G>A	uc001qwq.3	+	1	100	c.69G>A	c.(67-69)caG>caA	p.Q23Q	CLEC12A_uc001qwr.4_Silent_p.Q13Q|CLEC12A_uc001qws.4_Silent_p.Q13Q|CLEC12A_uc001qwt.3_5'UTR	NM_001207010	NP_001193939	Q5QGZ9	CL12A_HUMAN	Homo sapiens C-type lectin domain family 12, member A (CLEC12A), transcript variant 3, mRNA.	13						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TTCAATTCCAGAACTCCAGTG	0.323000														75			15		0	0	0.004007	0	0
ORC5	5001	broad.mit.edu	37	7	103801596	103801597	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:103801596_103801597GG>AA	uc003vcb.3	-	11	1215_1216	c.1072_1073CC>TT	c.(1072-1074)cca>TTa	p.P358L	ORC5_uc011klp.2_Missense_Mutation_p.P226L	NM_002553	NP_002544	O43913	ORC5_HUMAN	Homo sapiens origin recognition complex, subunit 5 (ORC5), transcript variant 1, mRNA.	358					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	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCTGTCTAGTGGAAATGGTTTT	0.342000														92			21		0	0	0.004672	0	0
UEVLD	55293	broad.mit.edu	37	11	18566188	18566188	+	Missense_Mutation	SNP	C	T	T	rs146073687	byFrequency	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:18566188C>T	uc001mot.3	-	8	1122	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	UEVLD_uc001mou.3_Missense_Mutation_p.E348K|UEVLD_uc010rde.2_Missense_Mutation_p.E218K|UEVLD_uc010rdf.2_Missense_Mutation_p.E326K|UEVLD_uc010rdg.2_Missense_Mutation_p.E218K|UEVLD_uc001mov.3_Missense_Mutation_p.E326K	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	348					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCTCCTTGCTCGCCAATAACC	0.433000														91			21		0	0	0.002299	0	0
TCRBV12S2	0	broad.mit.edu	37	7	142231867	142231867	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:142231867C>T	uc003vyh.2	-	2	148	c.50_splice	c.e2-1	p.G17_splice	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ATCCCTGTGTCCTGTAATAGA	0.527000														52			26		0	0	0.003954	0	0
LRFN1	57622	broad.mit.edu	37	19	39799143	39799143	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:39799143G>C	uc002okw.2	-	1	1446	c.1446C>G	c.(1444-1446)gaC>gaG	p.D482E		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	482	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCGCCGCCAGGTCATTCACCA	0.657000														21			9		0	0	0.001855	0	0
C11orf45	219833	broad.mit.edu	37	11	128772520	128772520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:128772520C>T	uc001qeu.3	-	3	564	c.370G>A	c.(370-372)Gat>Aat	p.D124N	KCNJ5_uc001qet.3_Intron|KCNJ5_uc009zck.3_Intron|C11orf45_uc009zcl.3_Missense_Mutation_p.D124N|C11orf45_uc001qev.3_Missense_Mutation_p.D124N	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	Homo sapiens chromosome 11 open reading frame 45 (C11orf45), transcript variant 2, mRNA.	124						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		TCTCTACTATCATGGGCCTTG	0.587000														32			7		0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82582446	82582446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:82582446G>A	uc003uhx.2	-	4	8112	c.7823C>T	c.(7822-7824)tCa>tTa	p.S2608L	PCLO_uc003uhv.2_Missense_Mutation_p.S2608L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2539					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						TTTGGAGGGTGATCCCAAGGG	0.433000														202			37		0	0	0.001485	0	0
FMO3	2328	broad.mit.edu	37	1	171073058	171073058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:171073058G>A	uc001ghi.3	+	2	376	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	FMO3_uc001ghh.3_Missense_Mutation_p.E89K|FMO3_uc010pmb.2_Missense_Mutation_p.E69K|FMO3_uc010pmc.2_Intron|MIR1295A_uc021pes.1_5'Flank	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	89					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)					CAAGATCCAGGAATATATCAT	0.378000														60			7		0	0	0.001984	0	0
UNC5A	90249	broad.mit.edu	37	5	176306860	176306860	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:176306860C>T	uc003mey.3	+	14	2694	c.2502C>T	c.(2500-2502)ctC>ctT	p.L834L		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	834	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|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)			ACGCTGGCCTCTTCACAGTGT	0.657000														26			6		0	0	0.001168	0	0
GPR174	84636	broad.mit.edu	37	X	78427409	78427409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:78427409G>A	uc004edg.1	+	0	941	c.905G>A	c.(904-906)cGg>cAg	p.R302Q		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	302						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R301I(1)		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						TTCCGAAGACGGCTTTCAAGA	0.398000										HNSCC(63;0.18)				29			16		0	0	0.004007	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579527	140579527	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140579527C>T	uc003liy.3	+	0	180	c.180C>T	c.(178-180)tcC>tcT	p.S60S		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	60	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTGTCCTCACGGGGGG	0.512000														67			12		0	0	0.001855	0	0
TUBB6	84617	broad.mit.edu	37	18	12325740	12325740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:12325740C>T	uc002kqw.3	+	3	987	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	TUBB6_uc002kqv.3_Missense_Mutation_p.R246C|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	318					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.R318P(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CACCGTGTTCCGCGGGCCCAT	0.617000														72			19		0	0	0.000958	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64587197	64587197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:64587197G>A	uc003jtp.3	-	10	2285	c.1471C>T	c.(1471-1473)Cgt>Tgt	p.R491C	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.R112C	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	491					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TACTGGAAACGACATTGCTCA	0.468000														70			14		0	0	0.004990	0	0
CRYZL1	9946	broad.mit.edu	37	21	34975741	34975741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:34975741C>T	uc021wio.1	-	6	614	c.434G>A	c.(433-435)gGa>gAa	p.G145E	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.G169E|CRYZL1_uc002yss.1_Non-coding_Transcript|CRYZL1_uc002yst.1_Non-coding_Transcript	NM_145858	NP_665857	O95825	QORL1_HUMAN	Homo sapiens crystallin, zeta (quinone reductase)-like 1 (CRYZL1), mRNA.	145					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CACTGATTTTCCAGGAGAGAG	0.433000														87			17		0	0	0.006122	0	0
PRDM4	11108	broad.mit.edu	37	12	108133244	108133244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:108133244C>T	uc001tmp.3	-	10	2446	c.2009G>A	c.(2008-2010)gGg>gAg	p.G670E	PRDM4_uc001tmq.3_Non-coding_Transcript	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	Homo sapiens PR domain containing 4 (PRDM4), mRNA.	670					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ATTCTTCTCCCCAGTGTGGAT	0.493000														53			9		0	0	0.004482	0	0
BACH2	60468	broad.mit.edu	37	6	90648048	90648048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:90648048C>T	uc011eab.2	-	7	2732	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	BACH2_uc003pnw.3_Missense_Mutation_p.D620N	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	620						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTGATTTGATCTACAGGAAAA	0.378000														46			8		0	0	0.004482	0	0
STK10	6793	broad.mit.edu	37	5	171491790	171491790	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:171491790G>A	uc003mbo.1	-	12	2316	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	672							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTGCTGTCGGGGGAGCTTCT	0.567000														65			13		0	0	0.004007	0	0
FKBP6	8468	broad.mit.edu	37	7	75023590	75023590	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:75023590G>A	uc010ldb.2	-	2	343	c.216C>T	c.(214-216)ttC>ttT	p.F72F	TRIM73_uc011kfw.2_Intron|TRIM73_uc003uda.3_Intron|TRIM73_uc003udc.1_5'Flank|TRIM73_uc010ldc.3_5'Flank			O75344	FKBP6_HUMAN	SubName: Full=Uncharacterized protein;	72	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.P71H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AATTAGAATCGAAGGGTCTGT	0.418000														62			17		0	0	0.000958	0	0
TRIP12	9320	broad.mit.edu	37	2	230643226	230643226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:230643226C>T	uc002vpx.1	-	35	5315	c.5206G>A	c.(5206-5208)Gct>Act	p.A1736T	TRIP12_uc021vxw.1_Missense_Mutation_p.A1721T|TRIP12_uc002vpy.1_Missense_Mutation_p.A1418T|TRIP12_uc002vpw.1_Missense_Mutation_p.A1688T	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1688					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.S1735*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCGATATGAGCTGGCTTTGCT	0.433000														114			6		0	0	0.001168	0	0
GYPA	2993	broad.mit.edu	37	4	145038046	145038046	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:145038046C>T	uc003ijo.4	-	4	434	c.318G>A	c.(316-318)acG>acA	p.T106T	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Silent_p.T73T|GYPA_uc003ijp.4_Silent_p.T74T|GYPA_uc010ioq.3_Silent_p.T93T|GYPA_uc010ior.3_Silent_p.T41T|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	106					interspecies interaction between organisms	membrane fraction	receptor activity	p.T106T(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTAAGAGGATCGTTCCAATAA	0.358000														162			35		0	0	0.004878	0	0
GREB1	9687	broad.mit.edu	37	2	11772080	11772080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:11772080C>T	uc002rbk.1	+	26	4957	c.4657C>T	c.(4657-4659)Cgt>Tgt	p.R1553C	GREB1_uc002rbp.1_Missense_Mutation_p.R551C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1553						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AACCACCGGCCGTCACGAACA	0.443000														66			12		0	0	0.001368	0	0
IL17F	112744	broad.mit.edu	37	6	52103660	52103660	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:52103660A>G	uc003pam.1	-	1	193	c.122T>C	c.(121-123)tTc>tCc	p.F41S	IL17F_uc003pal.1_5'UTR	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	Homo sapiens interleukin 17F (IL17F), mRNA.	41					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					AGGCTTTTGGAAAAAAGTATG	0.483000														68			12		0	0	0.001855	0	0
SPAG16	79582	broad.mit.edu	37	2	214878736	214878736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:214878736C>T	uc002veq.3	+	12	1554	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	SPAG16_uc010fuz.2_Missense_Mutation_p.P339S|SPAG16_uc002ver.3_Missense_Mutation_p.P434S|SPAG16_uc010zjk.2_Missense_Mutation_p.P394S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	488					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAGTTTTTTCCTTTCTCCAA	0.363000														84			19		0	0	0.001882	0	0
ACPP	55	broad.mit.edu	37	3	132061482	132061482	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:132061482T>G	uc010htp.2	+	5	732	c.642T>G	c.(640-642)taT>taG	p.Y214*	ACPP_uc003eon.3_Nonsense_Mutation_p.Y181*|ACPP_uc003eop.4_Nonsense_Mutation_p.Y214*	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	214						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACCCTTTATATTGTGAGGTAA	0.313000														65			13		0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179664334	179664334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:179664334G>A	uc021vsy.1	-	5	1019	c.794C>T	c.(793-795)tCc>tTc	p.S265F	TTN_uc021vsz.1_Missense_Mutation_p.S265F|TTN_uc021vta.1_Missense_Mutation_p.S265F|TTN_uc021vtb.1_Missense_Mutation_p.S265F|TTN_uc002unb.2_Missense_Mutation_p.S265F|TTN_uc002und.3_Missense_Mutation_p.S265F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	265	ZIS1.						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)			TGGTGTTGGGGATCTTGACTT	0.562000														74			14		0	0	0.004007	0	0
GRIA1	2890	broad.mit.edu	37	5	153175055	153175055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:153175055G>A	uc011dcy.2	+	13	2347	c.2320G>A	c.(2320-2322)Gtt>Att	p.V774I	GRIA1_uc003lva.4_Missense_Mutation_p.V764I|GRIA1_uc003luy.4_Intron|GRIA1_uc003luz.4_Missense_Mutation_p.V669I|GRIA1_uc011dcv.2_Intron|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Intron|GRIA1_uc011dcz.2_Intron	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	764					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.L773S(1)|p.D774E(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAACCTAGCGGTTTTGAAACT	0.418000														15			5		0	0	0.000602	0	0
BCL11A	53335	broad.mit.edu	37	2	60687571	60687571	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:60687571G>A	uc002sae.1	-	3	2704	c.2476C>T	c.(2476-2478)Cga>Tga	p.R826*	BCL11A_uc002sab.3_Intron|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_Nonsense_Mutation_p.R674*|BCL11A_uc002saf.1_Nonsense_Mutation_p.R792*	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	826					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTCAACACTCGATCACTGTGC	0.443000			T	IGH@	B-CLL									440			119		0	0	0.003610	0	0
LGR6	59352	broad.mit.edu	37	1	202163294	202163294	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:202163294C>T	uc001gxu.3	+	0	177	c.177C>T	c.(175-177)gcC>gcT	p.A59A		NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	59	LRRNT.					integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCTGTCCGCCGTTCCGGGGG	0.741000														22			11		0	0	0.002450	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176070207	176070207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:176070207G>A	uc010jkf.1	+	3	724	c.140G>A	c.(139-141)gGg>gAg	p.G47E		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA.	47					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTGAGAGGGAAGGCCCGG	0.612000														58			8		0	0	0.000673	0	0
LILRP2	79166	broad.mit.edu	37	19	55224690	55224690	+	RNA	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:55224690G>A	uc002qgs.1	+	0		c.5090G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GCTGCTTTAGGATTGGCACAG	0.542000														15			5		0	0	0.000602	0	0
CLCN5	1184	broad.mit.edu	37	X	49853375	49853375	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:49853375C>T	uc004dos.1	+	8	1616	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	CLCN5_uc004dor.1_Silent_p.I526I|CLCN5_uc004doq.1_Silent_p.I526I|CLCN5_uc004dot.1_Silent_p.I456I	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	456					excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GCCTCTTTATCCCTAGCATGG	0.483000														105			54		0	0	0.003610	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691979	77691979	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:77691979C>T	uc011cbx.2	+	9	6503	c.5550C>T	c.(5548-5550)tcC>tcT	p.S1850S	SHROOM3_uc003hkg.3_Silent_p.S1628S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1850	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGCTGCTCTCCCTCTCGGGGC	0.522000														104			24		0	0	0.002780	0	0
LUM	4060	broad.mit.edu	37	12	91502039	91502039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:91502039C>T	uc001tbm.3	-	1	1107	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	240					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.E240K(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCAGCCAGTTCGTTGTGAGAT	0.388000														58			21		0	0	0.001523	0	0
CDH15	1013	broad.mit.edu	37	16	89256729	89256729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:89256729C>T	uc002fmt.3	+	7	1134	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	353	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCGGCTGCCCTTAGGGCTGA	0.632000														18			10		0	0	0.000978	0	0
PRNT	149830	broad.mit.edu	37	20	4713247	4713247	+	RNA	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:4713247G>A	uc002wlb.3	-	1		c.777C>T			PRNT_uc010zqp.2_Non-coding_Transcript|PRNT_uc010zqq.2_Non-coding_Transcript					Homo sapiens prion protein (testis specific) (PRNT), transcript variant 2, non-coding RNA.											endometrium(2)|lung(5)	7						ctgaaaggatggatggaggca	0.448000														30			7		0	0	0.003080	0	0
ADAM28	10863	broad.mit.edu	37	8	24167700	24167700	+	Silent	SNP	G	A	A	rs150620720		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:24167700G>A	uc003xdy.3	+	3	335	c.252G>A	c.(250-252)acG>acA	p.T84T	ADAM28_uc003xdx.3_Silent_p.T84T|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	84					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGGCTACACGGAAACATATT	0.398000														18			10		0	0	0.000443	0	0
GMDS	2762	broad.mit.edu	37	6	1742779	1742779	+	Silent	SNP	G	A	A	rs149057214		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:1742779G>A	uc003mtq.3	-	7	1025	c.813C>T	c.(811-813)ttC>ttT	p.F271F	GMDS_uc021ykn.1_Silent_p.F241F	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	271					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TAGCTATAACGAAGTCCTCCG	0.443000														56			15		0	0	0.004007	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72202091	72202091	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:72202091G>A	uc001xms.3	+	19	5530	c.5169G>A	c.(5167-5169)caG>caA	p.Q1723Q	SIPA1L1_uc001xmt.3_Silent_p.Q1702Q|SIPA1L1_uc001xmu.3_Silent_p.Q1702Q|SIPA1L1_uc001xmv.3_Silent_p.Q1723Q|SIPA1L1_uc010ttm.2_Silent_p.Q1177Q	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1723					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCTGGCCCAGATGAAGCCTT	0.542000														68			25		0	0	0.002780	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969382	47969382	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:47969382G>A	uc010ele.3	-	0	295	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SLC8A2_uc002pgx.3_Silent_p.F93F|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	93					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGGCCGCCATGAAACGGTCGG	0.582000														41			12		0	0	0.001368	0	0
GLYR1	84656	broad.mit.edu	37	16	4873863	4873863	+	Missense_Mutation	SNP	C	T	T	rs142231403		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:4873863C>T	uc002cxx.4	-	5	620	c.583G>A	c.(583-585)Gga>Aga	p.G195R	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.G126R|GLYR1_uc002cya.2_Missense_Mutation_p.G195R|GLYR1_uc010uxv.1_Missense_Mutation_p.G114R	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	195					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GCCATCGGTCCGGCCATCATC	0.552000														155			32		0	0	0.002836	0	0
CFB	629	broad.mit.edu	37	6	31895950	31895950	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:31895950C>T	uc011doq.2	+	1	529	c.150C>T	c.(148-150)ctC>ctT	p.L50L	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Intron|CFB_uc003nyf.3_Intron|CFB_uc010jtk.3_Intron|CFB_uc011dor.2_Intron	NM_001178063	NP_001171534	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 3, mRNA.	0	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						ACGTGAGGCTCCCTGTGGGCT	0.587000														52			18		0	0	0.006122	0	0
UCHL1	7345	broad.mit.edu	37	4	41265263	41265263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:41265263C>T	uc003gvo.3	+	6	577	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	UCHL1_uc003gvp.3_Missense_Mutation_p.H80Y	NM_004181	NP_004172	P09936	UCHL1_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.	161					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	p.H161Y(2)|p.F160F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GGTGAATTTCCATTTTATTCT	0.333000														71			14		0	0	0.002450	0	0
SP1	6667	broad.mit.edu	37	12	53800524	53800524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:53800524G>A	uc001scw.3	+	3	1928	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	SP1_uc021qyf.1_Missense_Mutation_p.D563N|SP1_uc010sog.2_Missense_Mutation_p.D604N	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	611					positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CTACTGTAAAGACAGTGAAGG	0.453000														24			9		0	0	0.000443	0	0
SLC44A5	204962	broad.mit.edu	37	1	75677163	75677163	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:75677163G>A	uc010oqz.1	-	21	2220	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	SLC44A5_uc001dgt.2_Silent_p.F679F|SLC44A5_uc001dgs.2_Silent_p.F637F|SLC44A5_uc001dgr.2_Silent_p.F637F|SLC44A5_uc001dgu.3_Silent_p.F679F|SLC44A5_uc010ora.2_Silent_p.F673F|SLC44A5_uc010orb.2_Silent_p.F549F	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	679						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGAAGCAGATGAAAATTGTTT	0.443000														32			13		0	0	0.001855	0	0
TTK	7272	broad.mit.edu	37	6	80732173	80732173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:80732173G>A	uc003pjc.3	+	10	1352	c.1241G>A	c.(1240-1242)cGa>cAa	p.R414Q	TTK_uc003pjb.4_Missense_Mutation_p.R414Q	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	414					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R398Q(1)|p.R414Q(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GAGTTAGCCCGAAAAGTTAAT	0.363000														43			12		0	0	0.001855	0	0
PLCH1	23007	broad.mit.edu	37	3	155200026	155200026	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:155200026C>T	uc021xge.1	-	22	4090	c.3813G>A	c.(3811-3813)acG>acA	p.T1271T	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.T1233T	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1271					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T1233T(1)|p.T1271T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACTGTGTTCGTTGCATGTT	0.468000														150			20		0	0	0.001523	0	0
OR4D9	390199	broad.mit.edu	37	11	59282667	59282667	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:59282667C>T	uc010rkv.2	+	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	94					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						CCATCTCCTTCAGTGGCTGTG	0.473000														70			16		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9065698	9065698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:9065698C>T	uc002mkp.3	-	2	21952	c.21748G>A	c.(21748-21750)Gag>Aag	p.E7250K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7252	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						CTGCCTGTCTCCCTCAATTTA	0.483000														125			42		0	0	0.003610	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307638	46307638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:46307638C>T	uc002pdm.3	-	2	1696	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	RSPH6A_uc002pdl.3_Missense_Mutation_p.E245K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	509	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCCTCCTCCTCGTCGCCCTCC	0.657000														33			13		0	0	0.001855	0	0
SDSL	113675	broad.mit.edu	37	12	113866236	113866236	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:113866236G>A	uc001tvi.3	+	3	393	c.186G>A	c.(184-186)aaG>aaA	p.K62K	SDSL_uc009zwh.3_Silent_p.K62K	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	62					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	TGGCCAAGAAGGGATGCAGAC	0.552000														36			5		0	0	0.001168	0	0
ZMYND12	84217	broad.mit.edu	37	1	42905608	42905608	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:42905608G>A	uc001chj.3	-	3	783	c.513C>T	c.(511-513)caC>caT	p.H171H	ZMYND12_uc010ojt.2_Silent_p.H61H	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	Homo sapiens zinc finger, MYND-type containing 12 (ZMYND12), transcript variant 1, mRNA.	171						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAGTAAAGAGTGGGTGGCAT	0.443000														88			26		0	0	0.001271	0	0
HYDIN	54768	broad.mit.edu	37	16	70863536	70863536	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:70863536C>T	uc002ezr.3	-	80	14245	c.14094G>A	c.(14092-14094)gaG>gaA	p.E4698E	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.	4699										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)				GCTTGCGGTTCTCCAAGTTCA	0.562000														35			5		0	0	0.001168	0	0
DRD5	1816	broad.mit.edu	37	4	9784227	9784227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:9784227G>A	uc003gmb.4	+	0	970	c.574G>A	c.(574-576)Gac>Aac	p.D192N		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	192					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGGCGGGCTGGACCTGCCAAA	0.607000														40			13		0	0	0.001368	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789510	6789510	+	Missense_Mutation	SNP	G	A	A	rs150417998		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:6789510G>A	uc001meq.1	-	0	679	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R227H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GATGGCATACGAAGCACAGTG	0.483000														23			7		0	0	0.001984	0	0
SCYL3	57147	broad.mit.edu	37	1	169842850	169842850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:169842850G>A	uc001ggs.2	-	4	707	c.509C>T	c.(508-510)cCt>cTt	p.P170L	SCYL3_uc001ggt.2_Missense_Mutation_p.P170L	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	170	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.I169F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCTTCAGGAGGGATAGATGC	0.328000														84			13		0	0	0.002450	0	0
PCDH20	64881	broad.mit.edu	37	13	61987036	61987036	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr13:61987036A>G	uc001vid.4	-	1	1560	c.1196T>C	c.(1195-1197)cTt>cCt	p.L399P	PCDH20_uc010thj.2_Missense_Mutation_p.L399P	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	372	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCCATTAGCAAGGATGGTGAG	0.428000														73			35		0	0	0.002836	0	0
MUC16	94025	broad.mit.edu	37	19	9090790	9090790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:9090790C>T	uc002mkp.3	-	0	1229	c.1025G>A	c.(1024-1026)aGg>aAg	p.R342K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	342	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						GCTTCTGACCCTTTCGGCACT	0.517000														54			12		0	0	0.000978	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74648261	74648261	+	Silent	SNP	G	A	A	rs144700840		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:74648261G>A	uc001dfy.4	-	2	726	c.534C>T	c.(532-534)aaC>aaT	p.N178N	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	178	LRRCT.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAAGTCGATGGTTACATGCTT	0.343000														26			5		0	0	0.001168	0	0
ZNF883	169834	broad.mit.edu	37	9	115759580	115759580	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:115759580G>A	uc011lwy.2	-	4	2199	c.960C>T	c.(958-960)ccC>ccT	p.P320P		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TACACTGGTAGGGTTTCTCTC	0.388000														88			20		0	0	0.000958	0	0
FMOD	2331	broad.mit.edu	37	1	203317363	203317363	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:203317363G>A	uc001gzr.3	-	1	172	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	12					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AGAGGGAGAAGAGCCCTGCCA	0.572000														54			7		0	0	0.004482	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978960	119978960	+	Silent	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:119978960T>C	uc010inb.3	+	4	3853	c.3657T>C	c.(3655-3657)taT>taC	p.Y1219Y	SYNPO2_uc011cgh.2_3'UTR|SYNPO2_uc010inc.3_Silent_p.Y1089Y	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	0						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGTTGCCATATGCATATTATA	0.433000														69			13		0	0	0.004007	0	0
NBR1	4077	broad.mit.edu	37	17	41346489	41346489	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:41346489C>T	uc010whv.2	+	12	1730	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	NBR1_uc010czd.3_Silent_p.I549I|NBR1_uc010diz.3_Silent_p.I549I|NBR1_uc010whu.2_Silent_p.I549I|NBR1_uc010whw.2_Silent_p.I528I|NBR1_uc010whx.1_Silent_p.I358I	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	549	ATG8 family protein-binding.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGCTCTACATCCCATCTGTGG	0.522000														118			47		0	0	0.003610	0	0
PDZD2	23037	broad.mit.edu	37	5	32090403	32090403	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:32090403G>A	uc003jhl.3	+	19	7237	c.6849G>A	c.(6847-6849)ctG>ctA	p.L2283L	PDZD2_uc003jhm.3_Silent_p.L2283L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2283					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.P2282P(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TAAAGCCGCTGCTGGACACAT	0.522000														76			18		0	0	0.002299	0	0
PDE1C	5137	broad.mit.edu	37	7	31904663	31904663	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:31904663C>A	uc003tcm.2	-	6	1104	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	PDE1C_uc003tcn.1_Missense_Mutation_p.A215S|PDE1C_uc003tco.2_Missense_Mutation_p.A275S|PDE1C_uc003tcr.3_Missense_Mutation_p.A215S|PDE1C_uc003tcs.3_Missense_Mutation_p.A215S	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	215	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ACTTCCAGGGCCTCCACAAAT	0.438000														52			13		2.32078e-09	5.00184e-09	0.003163	1	0
TMCO5A	145942	broad.mit.edu	37	15	38243360	38243360	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:38243360G>A	uc001zjw.3	+	10	894	c.792G>A	c.(790-792)agG>agA	p.R264R	TMCO5A_uc001zjv.1_Intron	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	264						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TACTGGGCAGGAGCACCTTGT	0.438000														30			34		0	0	0.002836	0	0
DNAH10	196385	broad.mit.edu	37	12	124317687	124317687	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:124317687G>A	uc001uft.4	+	25	4243	c.4218G>A	c.(4216-4218)tgG>tgA	p.W1406*		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1406	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAGACACGTGGGAAAATATGA	0.443000														19			4		0	0	0.000248	0	0
RAI1	10743	broad.mit.edu	37	17	17697372	17697372	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:17697372T>A	uc002grm.3	+	2	1579	c.1110T>A	c.(1108-1110)ttT>ttA	p.F370L	RAI1_uc002grn.1_Missense_Mutation_p.F370L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	370						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGGAGAACTTTCCCTACAGCC	0.652000														90			17		0	0	0.000958	0	0
CNDP1	84735	broad.mit.edu	37	18	72250892	72250892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:72250892C>T	uc002llq.3	+	10	1616	c.1405C>T	c.(1405-1407)Ccg>Tcg	p.P469S	CNDP1_uc002lls.3_Missense_Mutation_p.P272S	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	469					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.P469P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGTGCTAATTCCGCTGGGAGC	0.478000														79			11		0	0	0.000978	0	0
ACE2	59272	broad.mit.edu	37	X	15609836	15609836	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:15609836G>A	uc004cxa.1	-	4	751	c.583_splice	c.e4+1	p.H195_splice	ACE2_uc004cxb.2_Splice_Site_p.H195_splice	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	195					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.H195Y(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GCAAACTTACGATTTGCTCTT	0.498000														94			58		0	0	0.003610	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21422553	21422553	+	Missense_Mutation	SNP	C	T	T	rs150224028	byFrequency	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:21422553C>T	uc001rer.3	-	13	2193	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	SLCO1A2_uc010siq.2_Missense_Mutation_p.E516K|SLCO1A2_uc001res.3_Missense_Mutation_p.E648K|SLCO1A2_uc010sio.2_Missense_Mutation_p.E516K|SLCO1A2_uc010sip.2_Missense_Mutation_p.E516K	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	648					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CACTCATTTTCCTTCCCTTTG	0.333000														95			21		0	0	0.002299	0	0
POTEA	340441	broad.mit.edu	37	8	43157198	43157198	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:43157198C>T	uc003xpz.1	+	4	821	c.778C>T	c.(778-780)Caa>Taa	p.Q260*	POTEA_uc003xqa.1_Intron	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	260								p.Q260E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTATTTTCTCAAGATGTATT	0.318000														85			18		0	0	0.000958	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572684	140572684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140572684G>A	uc003lix.3	+	0	733	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	187	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGGTGATGAAGGCATGAT	0.493000														161			34		0	0	0.001951	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577107	158577107	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:158577107G>A	uc010pio.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292I(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ATAGTCTAAGGAATAGGGCTA	0.463000														205			43		0	0	0.003214	0	0
LZTS2	84445	broad.mit.edu	37	10	102762458	102762458	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:102762458T>A	uc001ksj.3	+	1	333	c.163T>A	c.(163-165)Ttc>Atc	p.F55I	LZTS2_uc010qpw.2_Missense_Mutation_p.F55I|LZTS2_uc001ksk.3_Missense_Mutation_p.F55I|LZTS2_uc001ksl.3_Missense_Mutation_p.F55I|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	55	Required for centrosomal localization (By similarity).				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TGGGCCCACCTTCTTCCGCCA	0.672000														43			7		0	0	0.003080	0	0
KDM3A	55818	broad.mit.edu	37	2	86693920	86693920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:86693920C>T	uc002sri.4	+	9	1760	c.1433C>T	c.(1432-1434)gCt>gTt	p.A478V	KDM3A_uc010ytj.2_Missense_Mutation_p.A478V|KDM3A_uc010ytk.2_Missense_Mutation_p.A426V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	478					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A478S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TCAGCTTTAGCTTGCCGATCA	0.383000														49			13		0	0	0.002450	0	0
NFKBIB	4793	broad.mit.edu	37	19	39398053	39398054	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:39398053_39398054CC>TT	uc002ojw.3	+	4	826_827	c.723_724CC>TT	c.(721-726)ggccgg>ggTTgg	p.R242W	NFKBIB_uc010egk.2_Missense_Mutation_p.R156W|NFKBIB_uc002ojx.3_Missense_Mutation_p.R210W|NFKBIB_uc002ojy.3_Missense_Mutation_p.R242W	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.	242					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCACGTGCGGCCGGAGCCCCCT	0.688000														81			8		0	0	0.004672	0	0
REG1A	5967	broad.mit.edu	37	2	79348794	79348795	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:79348794_79348795GG>AA	uc010ysd.2	+	1	238_239	c.171_172GG>AA	c.(169-174)tgggtt>tgAAtt	p.57_58WV>*I	REG1A_uc010ffx.1_Nonsense_Mutation_p.57_58WV>*I|REG1A_uc002snz.3_Nonsense_Mutation_p.57_58WV>*I	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	57	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						GTGAGACCTGGGTTGATGCAGA	0.559000														102			31		0	0	0.004672	0	0
ARPP21	10777	broad.mit.edu	37	3	35780906	35780906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:35780906C>T	uc011axy.2	+	15	1957	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F	ARPP21_uc003cga.3_Missense_Mutation_p.S562F|ARPP21_uc003cgb.3_Missense_Mutation_p.S581F|ARPP21_uc003cgf.3_Missense_Mutation_p.S417F|ARPP21_uc003cgg.3_Missense_Mutation_p.S104F	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	581	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						TACCCATCCTCCCTTATGCCA	0.602000														47			14		0	0	0.001855	0	0
abParts	0	broad.mit.edu	37	2	90154148	90154148	+	RNA	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:90154148C>T	uc010yts.2	+	32		c.3880C>T								Parts of antibodies, mostly variable regions.																		CACTGGCATCCCAGCCAGGTT	0.537000														61			16		0	0	0.001882	0	0
SLC46A1	113235	broad.mit.edu	37	17	26726681	26726681	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:26726681C>T	uc002hbf.2	-	5	1469	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	SARM1_uc010crl.1_3'UTR|SARM1_uc002hbe.1_3'UTR|SLC46A1_uc021ttr.1_Silent_p.Q429Q	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA.	457					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	ATCAGGGGCTCTGGGGAAACT	0.562000														38			11		0	0	0.000978	0	0
DMBT1	1755	broad.mit.edu	37	10	124339135	124339135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:124339135G>A	uc001lgk.1	+	9	827	c.721G>A	c.(721-723)Gac>Aac	p.D241N	DMBT1_uc001lgl.1_Missense_Mutation_p.D241N|DMBT1_uc001lgm.1_Missense_Mutation_p.D241N|DMBT1_uc021qaf.1_Missense_Mutation_p.D241N|DMBT1_uc021qag.1_Missense_Mutation_p.D241N|DMBT1_uc021qah.1_Missense_Mutation_p.D241N|DMBT1_uc009xzz.1_Missense_Mutation_p.D241N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.D93N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	241	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D241N(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GAATGGAGGCGACAGGTGTCG	0.547000														313			51		0	0	0.003610	0	0
ELTD1	64123	broad.mit.edu	37	1	79357344	79357344	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:79357344G>A	uc001diq.4	-	13	2031	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	625					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.F625L(2)|p.F625S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCCGAGAAGGAACAGAAGAG	0.478000														40			4		0	0	0.000248	0	0
IL27RA	9466	broad.mit.edu	37	19	14150410	14150410	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:14150410C>T	uc002mxx.3	+	2	732	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	103					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTGACAAACTCCTTGTCTGGG	0.607000														68			12		0	0	0.000978	0	0
COL11A2	1302	broad.mit.edu	37	6	33144519	33144519	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:33144519G>A	uc003ocx.1	-	25	2322	c.2094C>T	c.(2092-2094)ccC>ccT	p.P698P	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.P612P|COL11A2_uc003ocz.1_Silent_p.P591P	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	698	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGGTTCCAGGGGGACCTTCCT	0.547000														39			5		0	0	0.001984	0	0
CASP1	834	broad.mit.edu	37	11	104971471	104971471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:104971471G>A	uc001pir.1	-	1	60	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron	NM_001007232	NP_001007233	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 17 (CARD17), mRNA.	15	CARD.		R -> H (in dbSNP:rs1042743).		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	p.R15S(1)		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)	CCCACTGAACGGATAAACTGC	0.433000														121			13		0	0	0.001855	0	0
NLRP13	126204	broad.mit.edu	37	19	56424493	56424493	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:56424493C>T	uc010ygg.2	-	4	715	c.690G>A	c.(688-690)acG>acA	p.T230T		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	230	NACHT.						ATP binding	p.T230M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCAAGACTATCGTCTGGGCCT	0.522000														101			30		0	0	0.002096	0	0
NRIP1	8204	broad.mit.edu	37	21	16340074	16340074	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:16340074A>G	uc021whl.1	-	0	440	c.440T>C	c.(439-441)gTt>gCt	p.V147A	NRIP1_uc002yjx.2_Missense_Mutation_p.V147A	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	147	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)		TGACAGAGCAACAGTCTGCAG	0.468000														46			11		0	0	0.000673	0	0
DAB1	1600	broad.mit.edu	37	1	57489283	57489283	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:57489283G>A	uc009vzx.1	-	10	1136	c.816C>T	c.(814-816)atC>atT	p.I272I	DAB1_uc001cyt.1_Silent_p.I270I|DAB1_uc001cyq.1_Silent_p.I270I|DAB1_uc001cyr.1_Silent_p.I186I|DAB1_uc009vzw.1_Silent_p.I254I|DAB1_uc001cys.1_Silent_p.I272I	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	305					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						ATGAAGATGGGATAAAGGCAT	0.537000														25			9		0	0	0.000443	0	0
WDR69	164781	broad.mit.edu	37	2	228750134	228750136	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:228750134_228750136TC>AT	uc002vpn.1	+	1	187_189	c.108_110TC>AT	c.(106-111)ggtccc>ggATc	p.P37del	WDR69_uc010zlw.1_Missense_Mutation_p.P22del|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	37										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TTGATCTTGGTCCCAGGTAAGTA	0.345000														51			11		0	0	0.004672	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518272	84518272	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:84518272C>T	uc010ffz.1	+	0	467	c.330C>T	c.(328-330)atC>atT	p.I110I						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		AGCTGAAGATCCCTAAGAGCA	0.453000														45			9		0	0	0.004482	0	0
MN1	4330	broad.mit.edu	37	22	28193708	28193708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:28193708C>T	uc003adj.3	-	0	3779	c.2824G>A	c.(2824-2826)Gga>Aga	p.G942R		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	942							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGACCCCGTCCCCGGCCGCCG	0.692000			T	ETV6	"""AML, meningioma"""									7			4		0	0	0.000248	0	0
NFIC	4782	broad.mit.edu	37	19	3449011	3449011	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:3449011G>A	uc010xhi.2	+	7	1029	c.959_splice	c.e7-1	p.G320_splice	NFIC_uc002lxo.3_Splice_Site_p.G311_splice|NFIC_uc010xhh.2_Splice_Site_p.G311_splice|NFIC_uc010xhj.2_Splice_Site_p.G320_splice|NFIC_uc002lxp.3_Splice_Site_p.G320_splice	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	320					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCCTCCACAGGCATCTCGTC	0.612000														85			20		0	0	0.003954	0	0
SAMD11	148398	broad.mit.edu	37	1	861352	861353	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:861352_861353CC>TT	uc001abw.1	+	1	111_112	c.31_32CC>TT	c.(31-33)ccg>TTg	p.P11L	SAMD11_uc001abv.1_Missense_Mutation_p.P11L	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	11						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGTGCATCCTCCGATCTGCGAC	0.644000														63			12		0	0	0.004672	0	0
GRIK5	2901	broad.mit.edu	37	19	42563509	42563509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:42563509G>A	uc002osj.1	-	4	714	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	GRIK5_uc010eib.1_Missense_Mutation_p.L146F	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	227						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ACCTTACGGAGGATGAGGTGG	0.597000														70			12		0	0	0.004007	0	0
AGAP11	119385	broad.mit.edu	37	10	88768937	88768937	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:88768937C>T	uc001kee.2	+	11	2132	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	310					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCTGGCCAGCCTGCAGTCATG	0.582000														161			23		0	0	0.005443	0	0
UVRAG	7405	broad.mit.edu	37	11	75852215	75852215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:75852215G>A	uc001oxc.3	+	14	2099	c.1858G>A	c.(1858-1860)Gtc>Atc	p.V620I	UVRAG_uc010rrw.2_Missense_Mutation_p.V519I|UVRAG_uc001oxd.3_Missense_Mutation_p.V248I|UVRAG_uc010rrx.2_Missense_Mutation_p.V248I|UVRAG_uc010rry.2_Missense_Mutation_p.V176I	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	620					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GTTCCACCCAGTCTCAGAAGC	0.587000														51			8		0	0	0.000673	0	0
SKP1	6500	broad.mit.edu	37	5	133509699	133509699	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:133509699C>T	uc003kzc.4	-	1	194	c.15G>A	c.(13-15)aaG>aaA	p.K5K	SKP1_uc003kzd.4_Silent_p.K5K	NM_170679	NP_733779	P63208	SKP1_HUMAN	Homo sapiens S-phase kinase-associated protein 1 (SKP1), transcript variant 2, mRNA.	5					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleoplasm	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACTCTGCAACTTAATTGAAG	0.338000														46			5		0	0	0.001168	0	0
FAM176B	55194	broad.mit.edu	37	1	36788614	36788614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:36788614C>T	uc001caj.1	-	1	317	c.25G>A	c.(25-27)Gag>Aag	p.E9K	SH3D21_uc010oic.1_Intron|FAM176B_uc001cai.1_Missense_Mutation_p.E9K	NM_018166	NP_060636	Q9NVM1	F176B_HUMAN	Homo sapiens family with sequence similarity 176, member B (FAM176B), mRNA.	9						integral to membrane				lung(1)|pancreas(1)	2						CTGAGCAACTCCATGTCCCTT	0.662000														46			5		0	0	0.001168	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720717	50720718	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:50720717_50720718CC>TT	uc003bkv.4	-	18	3105_3106	c.3012_3013GG>AA	c.(3010-3015)acgggt>acAAgt	p.G1005S	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'UTR	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1005	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGCCCTGACCCGTGACGTTGA	0.698000														67			16		0	0	0.004672	0	0
DERA	51071	broad.mit.edu	37	12	16111241	16111241	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:16111241C>T	uc001rde.3	+	2	381	c.249C>T	c.(247-249)ctC>ctT	p.L83L	DERA_uc010shx.1_5'UTR	NM_015954	NP_057038	Q9Y315	DEOC_HUMAN	Homo sapiens deoxyribose-phosphate aldolase (putative) (DERA), mRNA.	83					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				GGGAAGATCTCTTAAAAGCTT	0.343000														10			5		0	0	0.000602	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599068	136599068	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:136599068G>A	uc003qgx.1	-	3	1204	c.951C>T	c.(949-951)ggC>ggT	p.G317G	BCLAF1_uc003qgy.1_Silent_p.G315G|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.G315G|BCLAF1_uc003qgw.1_Silent_p.G317G	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	317					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACGAGGAACGGCCCCTAGACT	0.408000														107			6		0	0	0.001984	0	0
BRAF	673	broad.mit.edu	37	7	140453155	140453155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:140453155C>T	uc003vwc.4	-	14	1841	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	594	Protein kinase.		D -> G (in NHL).		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.D594G(43)|p.D594N(23)|p.D594H(4)|p.D594V(3)|p.D594K(3)|p.G593D(2)|p.D594E(2)|p.D594_T599del(1)|p.D594D(1)|p.G593S(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)	AGACCAAAATCACCTATTTTT	0.378000		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					71			18		0	0	0.001882	0	0
FLRT2	23768	broad.mit.edu	37	14	86088276	86088276	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:86088276C>G	uc021rxf.1	+	0	418	c.418C>G	c.(418-420)Ctg>Gtg	p.L140V	FLRT2_uc001xvr.3_Missense_Mutation_p.L140V|FLRT2_uc010atd.3_Missense_Mutation_p.L140V	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	140					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGAGCTGCACCTGGATGACAA	0.493000														64			16		0	0	0.006122	0	0
NWD1	284434	broad.mit.edu	37	19	16910870	16910870	+	Silent	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:16910870T>C	uc002neu.4	+	16	4055	c.3633T>C	c.(3631-3633)ttT>ttC	p.F1211F	NWD1_uc002net.4_Silent_p.F1076F|NWD1_uc002nev.4_Silent_p.F1005F|NWD1_uc021uqg.1_Silent_p.F1076F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1211							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGCACCATTTCTGGACCGCA	0.567000														37			9		0	0	0.004482	0	0
CLUL1	27098	broad.mit.edu	37	18	618075	618075	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:618075G>A	uc010wys.2	+	3	465	c.231G>A	c.(229-231)aaG>aaA	p.K77K	CLUL1_uc002kkp.3_Silent_p.K25K|CLUL1_uc002kkq.3_Silent_p.K25K	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	25					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CCACTTGGAAGGACAAAACTG	0.463000														44			5		0	0	0.000602	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984229	223984229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:223984229G>A	uc001hod.3	-	13	2436	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	TP53BP2_uc010pvb.2_Missense_Mutation_p.S671F|TP53BP2_uc010puz.2_5'UTR|TP53BP2_uc010pva.2_Missense_Mutation_p.S310F	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	665					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTGGCTATTGGAATAAATGTT	0.453000														152			16		0	0	0.004007	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76779672	76779672	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:76779672G>A	uc001dhh.2	+	1	364	c.201G>A	c.(199-201)gtG>gtA	p.V67V	ST6GALNAC3_uc001dhg.4_Silent_p.V67V|ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	67					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATAAATGTGAAGACACAAG	0.458000														56			13		0	0	0.004007	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6424799	6424800	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:6424799_6424800TC>CT	uc001qnr.3	+	4	687_688	c.539_540TC>CT	c.(538-540)ctc>cCT	p.L180P	PLEKHG6_uc001qns.3_Missense_Mutation_p.L180P|PLEKHG6_uc010sew.2_Missense_Mutation_p.L180P|PLEKHG6_uc010sex.2_Missense_Mutation_p.L148P	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	180	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GTGAGAAAGCTCAAGATCATGA	0.634000														18			12		0	0	0.004672	0	0
CILP2	148113	broad.mit.edu	37	19	19655235	19655235	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:19655235C>T	uc002nmw.4	+	7	1984	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	CILP2_uc002nmv.4_Silent_p.F627F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	627						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						ACCTGCGCTTCGTGGACAGCG	0.721000														94			24		0	0	0.003330	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506847	178506847	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:178506847C>T	uc003mju.3	+	4	1529	c.1414C>T	c.(1414-1416)Cag>Tag	p.Q472*		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAGTGTAATCAGTGTGGAAA	0.403000														49			15		0	0	0.004007	0	0
IARS2	55699	broad.mit.edu	37	1	220316323	220316323	+	Silent	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:220316323T>A	uc001hmc.3	+	20	2702	c.2598T>A	c.(2596-2598)acT>acA	p.T866T		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	866					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGATTAGTACTAGTTCTATCT	0.433000														66			15		0	0	0.003163	0	0
PKP4	8502	broad.mit.edu	37	2	159530490	159530490	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:159530490G>A	uc002tzv.3	+	18	3365	c.3105G>A	c.(3103-3105)caG>caA	p.Q1035Q	PKP4_uc002tzw.3_Silent_p.Q1035Q|PKP4_uc002tzx.3_Silent_p.Q692Q|PKP4_uc002uaa.3_Silent_p.Q887Q|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Silent_p.Q216Q|PKP4_uc002uae.1_Silent_p.Q122Q	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	1035					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCAACCAACAGATGTCACCCA	0.473000										HNSCC(62;0.18)				104			27		0	0	0.002096	0	0
ARID2	196528	broad.mit.edu	37	12	46245486	46245486	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:46245486C>T	uc001ros.1	+	14	3580	c.3580C>T	c.(3580-3582)Cag>Tag	p.Q1194*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q1194*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q650*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q821*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q528*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1194					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAATGCAACTCAGCTCATTGC	0.498000			"""N, S, F"""		hepatocellular carcinoma									58			13		0	0	0.001855	0	0
TP53I11	9537	broad.mit.edu	37	11	44958373	44958373	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:44958373G>A	uc001myi.3	-	7	920	c.315C>T	c.(313-315)ctC>ctT	p.L105L	TP53I11_uc001myf.1_Non-coding_Transcript|TP53I11_uc001myj.3_Silent_p.L105L|TP53I11_uc001myk.3_Silent_p.L105L|TP53I11_uc001myl.3_Silent_p.L105L|TP53I11_uc001mym.3_Silent_p.L52L	NM_006034	NP_006025	O14683	P5I11_HUMAN	Homo sapiens tumor protein p53 inducible protein 11 (TP53I11), mRNA.	105					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CACCGCCGTAGAGGCGGATGG	0.692000											OREG0020923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			5		0	0	0.003080	0	0
FLNC	2318	broad.mit.edu	37	7	128498224	128498224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:128498224C>T	uc003vnz.4	+	46	8152	c.7943C>T	c.(7942-7944)gCc>gTc	p.A2648V	FLNC_uc003voa.4_Missense_Mutation_p.A2615V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2648	Interaction with INPPL1.|Self-association site, tail (By similarity).				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						CTGTCCCAGGCCTTCGTGGGC	0.652000														52			7		0	0	0.001855	0	0
GNB2L1	10399	broad.mit.edu	37	5	180668525	180668525	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:180668525C>T	uc003mni.1	-	2	502	c.396G>A	c.(394-396)tgG>tgA	p.W132*	GNB2L1_uc003mnj.1_Nonsense_Mutation_p.W86*|GNB2L1_uc011dhk.1_Nonsense_Mutation_p.W132*|GNB2L1_uc010jls.3_Nonsense_Mutation_p.W91*|GNB2L1_uc011dhl.2_Nonsense_Mutation_p.W132*	NM_006098	NP_006089	P63244	GBLP_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 (GNB2L1), mRNA.	132					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|positive regulation of GTPase activity|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	SH2 domain binding|ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CCAGGGTATTCCATAGCTTGA	0.458000														119			28		0	0	0.001786	0	0
ACBD3	64746	broad.mit.edu	37	1	226353593	226353593	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:226353593A>G	uc001hpy.3	-	1	442	c.395T>C	c.(394-396)gTt>gCt	p.V132A		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	132	ACB.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		AAAGAATCCAACCTCAGGACA	0.393000														47			4		0	0	0.001168	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478429	42478429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:42478429G>A	uc002igw.2	-	7	1235	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F	GPATCH8_uc002igv.2_Missense_Mutation_p.S261F|GPATCH8_uc010wiz.2_Missense_Mutation_p.S261F	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	339						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCCTTGGTCAGAACTCTTCTC	0.478000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		133			38		0	0	0.004289	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766199	19766199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:19766199G>A	uc002nnh.4	-	10	1488	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	ATP13A1_uc002nnf.4_5'UTR|ATP13A1_uc002nng.3_Missense_Mutation_p.S369L	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	487					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGGCACGACCGAGGTGAGGAT	0.627000														31			5		0	0	0.000602	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420656	105420656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:105420656C>T	uc010axc.1	-	6	1252	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.E278K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	378						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCCTCTCCTCTCTCCTGCTG	0.632000														58			15		0	0	0.004007	0	0
DZIP3	9666	broad.mit.edu	37	3	108363472	108363472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:108363472G>A	uc003dxd.3	+	13	2025	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	DZIP3_uc003dxf.1_Missense_Mutation_p.D535N|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.D535N|DZIP3_uc003dxg.1_Missense_Mutation_p.D258N	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	535					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAAAGTTTCAGATATTCTTCT	0.398000														74			18		0	0	0.001216	0	0
FOXI3	344167	broad.mit.edu	37	2	88751516	88751516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:88751516G>A	uc010ytq.1	-	1	536	c.536C>T	c.(535-537)cCc>cTc	p.P179L		NM_001135649	NP_001129121	A8MTJ6	FOXI3_HUMAN	Homo sapiens forkhead box I3 (FOXI3), mRNA.	180					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)	2						CTGGTAGAAGGGGAAGCTATC	0.617000														5			4		0	0	0.000248	0	0
BAI3	577	broad.mit.edu	37	6	69348983	69348983	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:69348983C>A	uc010kak.3	+	1	692	c.416C>A	c.(415-417)cCa>cAa	p.P139Q	BAI3_uc003pev.4_Missense_Mutation_p.P139Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	139	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTAATTTCCCAGGATTACAG	0.338000														35			9		3.09899e-07	6.663e-07	0.004482	1	0
PRPF39	55015	broad.mit.edu	37	14	45571737	45571737	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:45571737T>C	uc001wvz.4	+	4	745	c.575T>C	c.(574-576)tTt>tCt	p.F192S	PRPF39_uc001wvy.4_Missense_Mutation_p.F71S|PRPF39_uc010and.3_5'UTR	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.	192					RNA splicing|mRNA processing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TTCAGAACTTTTGAGCATGCT	0.313000														54			11		0	0	0.000978	0	0
SH3BP5	9467	broad.mit.edu	37	3	15300546	15300546	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:15300546C>T	uc003bzp.1	-	6	870	c.681G>A	c.(679-681)aaG>aaA	p.K227K	SH3BP5_uc003bzq.1_Silent_p.K70K|SH3BP5_uc003bzr.1_Silent_p.K70K|AL133111_uc003bzo.1_Non-coding_Transcript	NM_004844	NP_001018009	O60239	3BP5_HUMAN	Homo sapiens SH3-domain binding protein 5 (BTK-associated) (SH3BP5), transcript variant 1, mRNA.	227					intracellular signal transduction	mitochondrion	SH3 domain binding|protein kinase inhibitor activity			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						CATCCACAGTCTTTTTCAGTT	0.488000														26			5		0	0	0.001168	0	0
CASR	846	broad.mit.edu	37	3	121980790	121980790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:121980790C>T	uc003eew.4	+	3	1346	c.908C>T	c.(907-909)tCc>tTc	p.S303F	CASR_uc003eev.4_Missense_Mutation_p.S303F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	303					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCAGCTCCTCCCTGATCGCC	0.597000														64			11		0	0	0.000978	0	0
CNTN5	53942	broad.mit.edu	37	11	100061871	100061871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:100061871C>T	uc001pga.3	+	13	2098	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	CNTN5_uc009ywv.2_Missense_Mutation_p.P532S|CNTN5_uc001pfz.3_Missense_Mutation_p.P532S|CNTN5_uc021qpb.1_Missense_Mutation_p.P532S|CNTN5_uc021qpc.1_Missense_Mutation_p.P458S|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	532	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCTATTCTTCCAGACGGGAG	0.363000														29			7		0	0	0.004482	0	0
GLT1D1	144423	broad.mit.edu	37	12	129360526	129360526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:129360526G>A	uc010tbh.1	+	1	112	c.103G>A	c.(103-105)Gag>Aag	p.E35K	GLT1D1_uc001uhx.1_Missense_Mutation_p.E46K|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	46					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AAGCCGATCTGAGATTGCAAA	0.478000														154			48		0	0	0.003610	0	0
TAGLN3	29114	broad.mit.edu	37	3	111719727	111719727	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:111719727C>T	uc003dym.3	+	2	667	c.289C>T	c.(289-291)Cta>Tta	p.L97L	TAGLN3_uc003dyl.3_Silent_p.L97L|TAGLN3_uc003dyn.3_Silent_p.L97L|TAGLN3_uc003dyo.3_Silent_p.L97L	NM_001008272	NP_037391	Q9UI15	TAGL3_HUMAN	Homo sapiens transgelin 3 (TAGLN3), transcript variant 2, mRNA.	97	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						CTCCCAGTTCCTAAAAGCTGC	0.473000														155			29		0	0	0.001786	0	0
GPR62	118442	broad.mit.edu	37	3	51990248	51990248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:51990248G>A	uc003dca.4	+	0	919	c.580G>A	c.(580-582)Ggc>Agc	p.G194S		NM_080865	NP_543141	Q9BZJ7	GPR62_HUMAN	Homo sapiens G protein-coupled receptor 62 (GPR62), mRNA.	194						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCCTACGGCGGCATCTTCGT	0.741000														12			4		0	0	0.000602	0	0
NUB1	51667	broad.mit.edu	37	7	151046271	151046271	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:151046271A>G	uc003wjx.3	+	2	318	c.302A>G	c.(301-303)tAt>tGt	p.Y101C	NUB1_uc022aqc.1_Missense_Mutation_p.Y101C|NUB1_uc003wjw.3_Missense_Mutation_p.Y77C|NUB1_uc003wjy.3_Non-coding_Transcript	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	77					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AATGACAATTATAGAACAACG	0.373000														129			27		0	0	0.001061	0	0
LILRB1	10859	broad.mit.edu	37	19	55143678	55143678	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:55143678C>T	uc002qgj.3	+	5	991	c.651C>T	c.(649-651)ctC>ctT	p.L217L	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.L217L|LILRB1_uc002qgk.3_Silent_p.L217L|LILRB1_uc002qgm.3_Silent_p.L217L|LILRB1_uc010erq.3_Silent_p.L217L|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	217	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCCTGGAGCTCCTGGTCCTAG	0.587000										HNSCC(37;0.09)				90			22		0	0	0.003954	0	0
RANBP10	57610	broad.mit.edu	37	16	67763670	67763671	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:67763670_67763671GG>AA	uc002eud.3	-	8	1175_1176	c.1059_1060CC>TT	c.(1057-1062)tcccga>tcTTga	p.R354*	RANBP10_uc010ceo.3_Nonsense_Mutation_p.R125*|RANBP10_uc010vju.2_Nonsense_Mutation_p.R298*|RANBP10_uc010vjv.2_Nonsense_Mutation_p.R237*|RANBP10_uc010vjw.1_Nonsense_Mutation_p.R15*	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	354	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TTGGGGCTTCGGGAGCTCAAAC	0.604000														95			20		0	0	0.004672	0	0
BACE2	25825	broad.mit.edu	37	21	42615331	42615331	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:42615331A>G	uc002yyw.3	+	4	1239	c.776A>G	c.(775-777)tAt>tGt	p.Y259C	BACE2_uc002yyx.3_Missense_Mutation_p.Y259C|BACE2_uc002yyy.3_Missense_Mutation_p.Y259C|BACE2_uc010goo.3_5'Flank	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	259					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity	p.L258V(1)		endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CCAAGTTTGTATAAAGGAGAC	0.393000														43			15		0	0	0.006122	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923328	9923328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:9923328C>T	uc010uym.2	-	9	2269	c.1959G>A	c.(1957-1959)atG>atA	p.M653I	GRIN2A_uc002czo.4_Missense_Mutation_p.M653I|GRIN2A_uc010uyn.2_Missense_Mutation_p.M496I|GRIN2A_uc002czr.4_Missense_Mutation_p.M653I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	653					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.M653I(4)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTCTTGGATCATGAAGGCAG	0.493000														47			5		0	0	0.001168	0	0
CHD6	84181	broad.mit.edu	37	20	40120436	40120437	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:40120436_40120437CC>TT	uc002xka.1	-	10	1515_1516	c.1337_1338GG>AA	c.(1336-1338)tgg>tAA	p.W446*	CHD6_uc002xkd.2_Nonsense_Mutation_p.W424*	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	446					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAAGTTTCTGCCAGGAGTCTGA	0.460000														114			20		0	0	0.004672	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975869	76975869	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:76975869G>A	uc002snr.3	-	3	2140	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	LRRTM4_uc002snq.3_Silent_p.I575I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	575						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCGACCTGGCGATGGTGGCGA	0.612000														155			37		0	0	0.003610	0	0
FAM47B	170062	broad.mit.edu	37	X	34961863	34961863	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:34961863C>T	uc004ddi.2	+	0	951	c.915C>T	c.(913-915)tcC>tcT	p.S305S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	305	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTGGAGTGTCCCATCTCCGCC	0.632000														35			10		0	0	0.000673	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559634	44559634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:44559634C>T	uc002lcr.1	-	0	2355	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K	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.	668					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.E668K(2)		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						TCCCCATTTTCGGGGTCAGCG	0.577000														100			30		0	0	0.001786	0	0
DNM1	1759	broad.mit.edu	37	9	130985086	130985086	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:130985086G>A	uc022bob.1	+	8	1230	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	DNM1_uc022bnx.1_Silent_p.E381E|DNM1_uc022bny.1_Silent_p.E381E|DNM1_uc022bnz.1_Silent_p.E381E|DNM1_uc022boa.1_Silent_p.E381E	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	381					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGTTTGATGAGAAGGAACTCC	0.547000														49			10		0	0	0.000673	0	0
LDLR	3949	broad.mit.edu	37	19	11224000	11224000	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:11224000G>A	uc002mqk.4	+	8	1420	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	LDLR_uc010xlk.2_Silent_p.K411K|LDLR_uc010xll.2_Silent_p.K370K|LDLR_uc021upc.1_Silent_p.K290K|LDLR_uc010xln.2_Silent_p.K284K|LDLR_uc010xlo.2_Silent_p.K243K|LDLR_uc010xlm.2_Silent_p.K264K|LDLR_uc021upd.1_Silent_p.K148K	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	411					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	AGGTCAGGAAGATGACGCTGG	0.627000														221			50		0	0	0.003610	0	0
SULT4A1	25830	broad.mit.edu	37	22	44221993	44221993	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:44221993C>T	uc003bee.1	-	7	859	c.743_splice	c.e7-1	p.G248_splice	SULT4A1_uc021wqv.1_Non-coding_Transcript|SULT4A1_uc003bed.1_Splice_Site_p.G169_splice|SULT4A1_uc003bef.1_Splice_Site|SULT4A1_uc011aqb.1_Splice_Site_p.G135_splice	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	248					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CCCAACTCTTCCTGAAACGCA	0.473000														64			14		0	0	0.003163	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077973	57077973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:57077973G>A	uc001njr.3	-	4	2524	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S	TNKS1BP1_uc001njs.3_Missense_Mutation_p.P738S|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.P189S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	738	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGGGCTGTGGGTCTCCTGTG	0.512000														58			11		0	0	0.001368	0	0
FLG	2312	broad.mit.edu	37	1	152284056	152284056	+	Silent	SNP	G	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:152284056G>T	uc001ezu.1	-	2	3342	c.3306C>A	c.(3304-3306)tcC>tcA	p.S1102S	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1102	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S1102S(2)		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)			AGTCACGTGCGGACTCTTGGT	0.577000									Ichthyosis					330			8		0.00448238	0.00950053	0.004482	1	0
TTC40	54777	broad.mit.edu	37	10	134627746	134627746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:134627746G>A	uc021qbc.1	-	53	7399	c.7298C>T	c.(7297-7299)cCt>cTt	p.P2433L		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	594										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GATGGAGACAGGAGTTAGCAT	0.557000														23			7		0	0	0.001984	0	0
B4GALNT3	283358	broad.mit.edu	37	12	670545	670545	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:670545C>T	uc001qii.1	+	19	2925	c.2925C>T	c.(2923-2925)tcC>tcT	p.S975S	B4GALNT3_uc001qik.1_Silent_p.S524S	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	975						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGCGTCTCTCCCTCAGGAATT	0.612000														22			6		0	0	0.003080	0	0
EIF1B	10289	broad.mit.edu	37	3	40352421	40352422	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:40352421_40352422CC>TT	uc003ckc.3	+	1	329_330	c.69_70CC>TT	c.(67-72)ctcccg>ctTTcg	p.P24S	FLJ33065_uc003ckb.3_5'Flank	NM_005875	NP_005866	O60739	EIF1B_HUMAN	Homo sapiens eukaryotic translation initiation factor 1B (EIF1B), mRNA.	24					regulation of translational initiation		protein binding|translation initiation factor activity			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ACGACTTACTCCCGGCAGGGAC	0.381000														39			5		0	0	0.004672	0	0
ARRDC1	92714	broad.mit.edu	37	9	140507443	140507444	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:140507443_140507444TC>AT	uc004cnp.2	+	1	288_289	c.214_215TC>AT	c.(214-216)tcg>ATg	p.S72M	ARRDC1_uc004cns.3_Missense_Mutation_p.S72M|ARRDC1_uc004cnx.2_5'UTR			Q8N5I2	ARRD1_HUMAN	Homo sapiens arrestin domain containing 1 (ARRDC1), mRNA.	72								p.L71M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CAGTTCCCTGTCGCTGGCAGAC	0.604000														16			6		0	0	0.004672	0	0
XIRP1	165904	broad.mit.edu	37	3	39226948	39226948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:39226948G>A	uc003cjk.2	-	1	4218	c.3989C>T	c.(3988-3990)cCt>cTt	p.P1330L	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P13L|XIRP1_uc021wvz.1_Missense_Mutation_p.P1330L	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1330	Pro-rich.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TAGGTGTGCAGGTTTAGGGGG	0.602000														73			24		0	0	0.003330	0	0
TMC7	79905	broad.mit.edu	37	16	19047023	19047023	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:19047023C>T	uc002dfp.2	+	6	1013	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	TMC7_uc010vao.1_Silent_p.L295L|TMC7_uc002dfq.3_Silent_p.L295L|TMC7_uc010vap.2_Silent_p.L185L	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	295						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAAAATCAACCTGATTCGGAG	0.473000														61			14		0	0	0.003163	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237794	132237795	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:132237794_132237795GG>AA	uc002tsu.4	+	3	721_722	c.528_529GG>AA	c.(526-531)caggtc>caAAtc	p.V177I		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	177					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CAGCCCCCCAGGTCTCCACAGC	0.569000														169			36		0	0	0.004672	0	0
ST7L	54879	broad.mit.edu	37	1	113161675	113161675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:113161675G>A	uc001ecd.3	-	0	366	c.61C>T	c.(61-63)Cct>Tct	p.P21S	ST7L_uc001ecc.3_5'Flank|ST7L_uc010owg.2_Missense_Mutation_p.P21S|ST7L_uc010owh.2_Missense_Mutation_p.P21S|ST7L_uc001ecf.3_Missense_Mutation_p.P21S|ST7L_uc001ece.3_Missense_Mutation_p.P21S|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_5'Flank|ST7L_uc001ech.3_Missense_Mutation_p.P21S|ST7L_uc001eci.3_Missense_Mutation_p.P21S|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Missense_Mutation_p.P21S|CAPZA1_uc001ecj.1_5'Flank	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	21					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTAGGCCAGGGACAGATGCA	0.692000														21			5		0	0	0.001168	0	0
KRAS	3845	broad.mit.edu	37	12	25378647	25378647	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:25378647T>G	uc001rgp.1	-	3	532	c.351A>C	c.(349-351)aaA>aaC	p.K117N	KRAS_uc001rgq.1_Missense_Mutation_p.K117N	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	117			K -> N (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.K117N(19)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCAAATCACATTTATTTCCTA	0.358000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				79			24		0	0	0.003954	0	0
CT47B1	643311	broad.mit.edu	37	X	120008962	120008962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:120008962C>T	uc011muc.2	-	0	818	c.563G>A	c.(562-564)gGc>gAc	p.G188D		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	188										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTGGATCAGGCCGAGGCCCTC	0.716000														17			18		0	0	0.006122	0	0
PSME4	23198	broad.mit.edu	37	2	54146315	54146315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:54146315G>A	uc002rxp.2	-	19	2545	c.2489C>T	c.(2488-2490)cCg>cTg	p.P830L	PSME4_uc010yop.1_Missense_Mutation_p.P716L|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.P205L|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Missense_Mutation_p.P815L	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	830					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCCTTTCAACGGAGGTAGGAG	0.318000														42			9		0	0	0.000443	0	0
IQGAP3	128239	broad.mit.edu	37	1	156507026	156507026	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:156507026G>A	uc001fpf.3	-	26	3444	c.3369C>T	c.(3367-3369)ctC>ctT	p.L1123L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1123	Ras-GAP.				small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding	p.L1123F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGTCATGGCGAGGAGGTTGC	0.557000														79			10		0	0	0.000978	0	0
PFAS	5198	broad.mit.edu	37	17	8170169	8170169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:8170169C>T	uc002gkr.3	+	22	3061	c.2920C>T	c.(2920-2922)Cat>Tat	p.H974Y	PFAS_uc010vuv.2_Missense_Mutation_p.H550Y|PFAS_uc002gks.3_Missense_Mutation_p.H53Y	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	974					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGCTGGCCTCCATTGCCTGGA	0.667000														23			5		0	0	0.001984	0	0
BEND3	57673	broad.mit.edu	37	6	107391441	107391441	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:107391441C>T	uc003prs.2	-	4	1604	c.954G>A	c.(952-954)gtG>gtA	p.V318V		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	318	BEN 1.							p.S317S(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CCGTGTCCTTCACCGAGGGGT	0.652000														25			7		0	0	0.001984	0	0
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:96706525C>T	uc010how.1	+	2	845	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_uc003drp.1_Missense_Mutation_p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443000														234			62		0	0	0.003610	0	0
SETD1A	9739	broad.mit.edu	37	16	30977304	30977304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:30977304C>T	uc002ead.1	+	7	2788	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	701					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						GGATTGATTGCCGCCTCAGCT	0.637000														81			14		0	0	0.004007	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554611	140554611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140554611G>A	uc003lit.3	+	0	2369	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	732					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R732*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTTTCCACGACATCTGGTG	0.637000														278			26		0	0	0.004656	0	0
DPYSL5	56896	broad.mit.edu	37	2	27121457	27121457	+	Silent	SNP	C	T	T	rs144960416		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:27121457C>T	uc002rhu.4	+	1	248	c.90C>T	c.(88-90)atC>atT	p.I30I	DPYSL5_uc002rhv.4_Silent_p.I30I|DPYSL5_uc021vev.1_Silent_p.I30I	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	30					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGTCTACATCGAGAATGGCA	0.577000														69			10		0	0	0.000443	0	0
PAPPA	5069	broad.mit.edu	37	9	119028244	119028244	+	Silent	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:119028244T>C	uc004bjn.3	+	7	3222	c.2841T>C	c.(2839-2841)tgT>tgC	p.C947C	PAPPA_uc011lxp.1_Silent_p.C642C|PAPPA_uc011lxq.2_Silent_p.C322C	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	947					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.C947C(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGGGTACTGTGGCGATGGCA	0.438000														34			13		0	0	0.001368	0	0
GPR158	57512	broad.mit.edu	37	10	25839947	25839947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:25839947C>T	uc001isj.3	+	5	1507	c.1447C>T	c.(1447-1449)Ctc>Ttc	p.L483F		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	483						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCGCTGTATTCTCCTAAGATG	0.423000														112			35		0	0	0.001485	0	0
NAT10	55226	broad.mit.edu	37	11	34160824	34160824	+	Silent	SNP	C	T	T	rs113424951		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:34160824C>T	uc001mvk.3	+	21	2542	c.2298C>T	c.(2296-2298)gcC>gcT	p.A766A	NAT10_uc010ren.2_Silent_p.A694A	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	766	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGCTTGCAGCCTTCTGGAAAG	0.582000														80			20		0	0	0.001523	0	0
FLG	2312	broad.mit.edu	37	1	152275224	152275224	+	Silent	SNP	C	T	T	rs150630644		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:152275224C>T	uc001ezu.1	-	2	12174	c.12138G>A	c.(12136-12138)tcG>tcA	p.S4046S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	4046					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S4046S(2)		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)			CCAGTTGTTTCGATATATCAC	0.343000									Ichthyosis					54			5		0	0	0.001168	0	0
PIGO	84720	broad.mit.edu	37	9	35093124	35093125	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:35093124_35093125CC>TT	uc003zwd.3	-	5	1417_1418	c.1021_1022GG>AA	c.(1021-1023)ggg>AAg	p.G341K	PIGO_uc003zwe.3_Missense_Mutation_p.G341K|PIGO_uc003zwf.3_Missense_Mutation_p.G341K|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	341					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.G341V(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CATCACTTCCCCGATATTCCCA	0.564000														44			4		0	0	0.004672	0	0
FAM101B	359845	broad.mit.edu	37	17	292987	292987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:292987G>A	uc002frj.3	-	1	404	c.403C>T	c.(403-405)Ccg>Tcg	p.P135S		NM_182705	NP_874364	Q8N5W9	F101B_HUMAN	Homo sapiens family with sequence similarity 101, member B (FAM101B), mRNA.	205										breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		TCGCTGCCCGGGAGCTCCGCG	0.657000														17			11		0	0	0.001368	0	0
KLHL13	90293	broad.mit.edu	37	X	117043543	117043543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:117043543C>T	uc011mtp.2	-	5	1229	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	KLHL13_uc004eqk.3_Missense_Mutation_p.D312N|KLHL13_uc004eql.3_Missense_Mutation_p.D363N|KLHL13_uc011mtn.2_Missense_Mutation_p.D203N|KLHL13_uc011mto.2_Missense_Mutation_p.D357N|KLHL13_uc011mtq.2_Missense_Mutation_p.D347N|KLHL13_uc004eqm.3_Missense_Mutation_p.D321N|KLHL13_uc022cde.1_Missense_Mutation_p.D347N	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	363					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCCTTTTCATCATACATGCGC	0.517000														33			19		0	0	0.000958	0	0
SPTBN5	51332	broad.mit.edu	37	15	42143348	42143348	+	Splice_Site	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:42143348T>A	uc001zos.3	-	65	10972	c.10639_splice	c.e65-1	p.K3547_splice		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	3582	PH.				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)		GAAGCTACTTTCTGAGGAGAG	0.622000														11			10		0	0	0.000673	0	0
CAPN2	824	broad.mit.edu	37	1	223943208	223943208	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:223943208C>T	uc001hob.4	+	9	1386	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	CAPN2_uc010puy.2_Silent_p.L310L|CAPN2_uc001hoc.3_5'Flank	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	388	Domain III.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CCCTCAGTACCTGATCAAGCT	0.622000														45			26		0	0	0.001061	0	0
BCAR3	8412	broad.mit.edu	37	1	94057855	94057855	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:94057855G>A	uc001dpz.3	-	3	728	c.453C>T	c.(451-453)agC>agT	p.S151S	BCAR3_uc001dqa.3_Silent_p.S151S|BCAR3_uc001dqb.3_Silent_p.S151S|BCAR3_uc001dpy.3_Silent_p.S60S|LOC100129046_uc009wdn.3_Non-coding_Transcript	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	151					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		ACCAGGCATGGCTGCGCAGGT	0.597000														47			13		0	0	0.002450	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572699	38572699	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:38572699C>G	uc002ohk.3	+	2	1003	c.494C>G	c.(493-495)cCc>cGc	p.P165R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	165					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)			GCCTTCCTCCCCCTTCGGCAC	0.716000														54			15		0	0	0.004990	0	0
N4BP2L1	90634	broad.mit.edu	37	13	32981886	32981886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr13:32981886C>T	uc001uuc.3	-	1	299	c.203G>A	c.(202-204)aGg>aAg	p.R68K	N4BP2L1_uc001uud.3_Missense_Mutation_p.R68K|N4BP2L1_uc001uuf.3_Missense_Mutation_p.R68K	NM_052818	NP_438169	Q5TBK1	N42L1_HUMAN	Homo sapiens NEDD4 binding protein 2-like 1 (N4BP2L1), transcript variant 1, mRNA.	68					cell killing		ATP binding	p.P67L(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AATCAGGGCCCTGGGAAAGTC	0.408000														47			20		0	0	0.000958	0	0
MYH2	4620	broad.mit.edu	37	17	10442879	10442879	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:10442879A>G	uc010coi.3	-	13	1276	c.1148_splice	c.e13-1	p.V383_splice	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Splice_Site_p.V383_splice|MYH2_uc010coj.3_Splice_Site_p.V383_splice	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	383	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						CTTGTCAGCAACTAAAAAGAA	0.413000														67			10		0	0	0.000443	0	0
ZNF451	26036	broad.mit.edu	37	6	57012014	57012014	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:57012014C>T	uc003pdm.1	+	9	1355	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	ZNF451_uc003pdl.3_Silent_p.T377T|ZNF451_uc003pdn.1_Silent_p.T377T|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.T377T	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAACCAGCACCCAAAATCATA	0.423000														36			17		0	0	0.004007	0	0
DSCAM	1826	broad.mit.edu	37	21	41424008	41424008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:41424008C>T	uc002yyq.1	-	29	5514	c.5062G>A	c.(5062-5064)Gat>Aat	p.D1688N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1688					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)				AAGTCAGCATCCGTCAACAGA	0.537000														58			16		0	0	0.003163	0	0
C3	718	broad.mit.edu	37	19	6707488	6707488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:6707488C>T	uc002mfm.3	-	15	2098	c.2036G>A	c.(2035-2037)cGa>cAa	p.R679Q		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	679					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)		TTTGTCCATTCGCTTCTCCGT	0.682000														76			11		0	0	0.001368	0	0
PROKR1	10887	broad.mit.edu	37	2	68872957	68872957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:68872957G>A	uc010yqj.2	+	0	164	c.4G>A	c.(4-6)Gag>Aag	p.E2K	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	2						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGCCAGATGGAGACCACCAT	0.557000														80			20		0	0	0.001216	0	0
WNK4	65266	broad.mit.edu	37	17	40934877	40934877	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:40934877G>A	uc002ibj.3	+	1	788	c.720G>A	c.(718-720)tgG>tgA	p.W240*	WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_5'Flank|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	240	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATGATTCGTGGAAGTCGGTGC	0.602000														33			4		0	0	0.000602	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798210	148798210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:148798210C>T	uc004fdq.3	+	4	1219	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	MAGEA11_uc004fdr.3_Missense_Mutation_p.P326L	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	355	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTTGGGGAGCCCAAGAGGCTC	0.547000														95			57		0	0	0.003610	0	0
GABRP	2568	broad.mit.edu	37	5	170232826	170232826	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:170232826C>T	uc003mau.3	+	6	846	c.648C>T	c.(646-648)ttC>ttT	p.F216F	GABRP_uc011dev.2_Silent_p.F216F	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	216						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCGGTATTTCACCTTAGTCA	0.478000														40			9		0	0	0.004482	0	0
AGL	178	broad.mit.edu	37	1	100346996	100346996	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:100346996T>A	uc001dsi.1	+	15	2550	c.2150T>A	c.(2149-2151)tTt>tAt	p.F717Y	AGL_uc001dsj.1_Missense_Mutation_p.F717Y|AGL_uc001dsk.1_Missense_Mutation_p.F717Y|AGL_uc001dsl.1_Missense_Mutation_p.F717Y|AGL_uc001dsm.1_Missense_Mutation_p.F701Y|AGL_uc001dsn.1_Missense_Mutation_p.F700Y	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	717					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCCAAGGGTTTTATTCAGGCA	0.393000														87			16		0	0	0.004007	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129963080	129963080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:129963080G>A	uc003qbr.3	-	1	286	c.197C>T	c.(196-198)tCc>tTc	p.S66F	ARHGAP18_uc011ebw.2_Missense_Mutation_p.S66F|ARHGAP18_uc021zfe.1_Missense_Mutation_p.S63F	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	66					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AGAATCCTGGGAAATTGATCG	0.388000														72			18		0	0	0.006122	0	0
CD4	920	broad.mit.edu	37	12	6909591	6909591	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:6909591C>T	uc001qqv.2	+	2	426	c.168C>T	c.(166-168)tcC>tcT	p.S56S	CD4_uc009zfa.2_Intron|CD4_uc009zez.2_Intron|CD4_uc009zfb.2_Intron|CD4_uc010sfj.2_Intron|CD4_uc009zfc.2_Intron|CD4_uc010sfl.2_Intron|CD4_uc010sfk.2_Intron	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	56	Ig-like V-type.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	p.N55N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				GGAAAAACTCCAACCAGATAA	0.478000														50			10		0	0	0.000673	0	0
MAN1A1	4121	broad.mit.edu	37	6	119522418	119522418	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:119522418C>T	uc003pym.1	-	8	1652	c.1210_splice	c.e8+1	p.H404_splice		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	404					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TTCTGACTTACGTTGACCCCA	0.388000														69			15		0	0	0.004007	0	0
PRKCB	5579	broad.mit.edu	37	16	24196802	24196802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:24196802G>A	uc002dmd.3	+	14	1833	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	PRKCB_uc002dme.3_Missense_Mutation_p.E546K	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	546	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AGGGGAGGATGAAGATGAACT	0.537000														63			17		0	0	0.004990	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47969934	47969935	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:47969934_47969935TC>GT	uc011mlv.2	+	2	209_210	c.137_138TC>GT	c.(136-138)atc>aGT	p.I46S	LOC100509575_uc022bvt.1_Non-coding_Transcript	NM_001205103	NP_001192032	B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.	46					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										TCGGAGAAAATCAGCTGTGTGC	0.406000														63			16		0	0	0.004672	0	0
MLXIP	22877	broad.mit.edu	37	12	122619843	122619843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:122619843C>T	uc001ubq.3	+	9	1913	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	MLXIP_uc001ubt.3_Missense_Mutation_p.S209F	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATGTTGGCCTCCACCGTGTCC	0.602000														38			12		0	0	0.002450	0	0
KRT26	353288	broad.mit.edu	37	17	38926572	38926572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:38926572G>A	uc002hvf.3	-	2	660	c.614C>T	c.(613-615)aCc>aTc	p.T205I		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	205	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.T205T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTCCAGGTCGGTTGTACAAAG	0.483000														102			13		0	0	0.001855	0	0
COL4A4	1286	broad.mit.edu	37	2	227915811	227915811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:227915811C>T	uc021vxr.1	-	31	3133	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	COL4A4_uc021vxs.1_Missense_Mutation_p.G1011E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1011	Triple-helical region.				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)		TCTGTGAAATCCAGGTGGTCC	0.547000														92			21		0	0	0.001882	0	0
DNAH8	1769	broad.mit.edu	37	6	38980032	38980032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:38980032G>A	uc021yzh.1	+	89	13522	c.13413G>A	c.(13411-13413)atG>atA	p.M4471I	DNAH8_uc003ooe.2_Missense_Mutation_p.M4254I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTAATTCAATGAACATATTTC	0.343000														49			11		0	0	0.000978	0	0
VPS13B	157680	broad.mit.edu	37	8	100880528	100880528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:100880528G>A	uc003yiv.3	+	58	11413	c.11302G>A	c.(11302-11304)Ggt>Agt	p.G3768S	VPS13B_uc003yiw.3_Missense_Mutation_p.G3743S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3768					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)			TGCAATTGCTGGTATAGTTGA	0.478000														39			13		0	0	0.002450	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41039565	41039565	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:41039565G>A	uc003jmj.4	-	19	2536	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	HEATR7B2_uc003jmi.4_Silent_p.F237F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	682							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						ATCGATTCATGAAAAACTTTT	0.323000														12			4		0	0	0.000248	0	0
ADAM18	8749	broad.mit.edu	37	8	39564383	39564383	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:39564383C>T	uc003xni.3	+	17	2032	c.1977C>T	c.(1975-1977)tcC>tcT	p.S659S	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.S635S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	659					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGTTTGGTTCCCCAGGGGGTA	0.318000														92			18		0	0	0.002299	0	0
TTI1	9675	broad.mit.edu	37	20	36640040	36640040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:36640040C>T	uc002xhl.3	-	2	2388	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N	TTI1_uc002xhm.3_Missense_Mutation_p.D727N	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	727							binding	p.S726*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGGTTAGCATCTGAGTTCCGC	0.468000														35			12		0	0	0.002450	0	0
LY9	4063	broad.mit.edu	37	1	160793254	160793254	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:160793254G>A	uc001fwu.3	+	8	1549	c.1499_splice	c.e8-1	p.E500_splice	LY9_uc001fwv.3_Intron|LY9_uc001fww.3_Splice_Site_p.E410_splice|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Intron	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	500					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTGTTCCAGAACCCACAGC	0.557000														18			7		0	0	0.003080	0	0
CSMD3	114788	broad.mit.edu	37	8	113318319	113318319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:113318319C>T	uc003ynu.3	-	50	8147	c.7988G>A	c.(7987-7989)cGa>cAa	p.R2663Q	CSMD3_uc003yns.3_Missense_Mutation_p.R1865Q|CSMD3_uc003ynt.3_Missense_Mutation_p.R2623Q|CSMD3_uc011lhx.2_Missense_Mutation_p.R2559Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2663	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGATGACAATCGATATCCATC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				83			26		0	0	0.002096	0	0
PMS1	5378	broad.mit.edu	37	2	190728858	190728858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:190728858C>T	uc002urh.4	+	9	2775	c.2246C>T	c.(2245-2247)cCa>cTa	p.P749L	PMS1_uc010zgb.1_Missense_Mutation_p.P688L|PMS1_uc002urk.4_Missense_Mutation_p.P710L|PMS1_uc002uri.4_Intron|PMS1_uc010zgc.2_Missense_Mutation_p.P573L|PMS1_uc010zgd.2_Missense_Mutation_p.P573L|PMS1_uc002urj.3_Intron|PMS1_uc010fry.1_Intron|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Intron|PMS1_uc002urm.3_Intron	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	749					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTATTAAATCCATATAGAGTA	0.383000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						162			31		0	0	0.003271	0	0
DRD2	1813	broad.mit.edu	37	11	113295295	113295295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:113295295C>T	uc001pnz.3	-	0	400	c.79G>A	c.(79-81)Ggg>Agg	p.G27R	DRD2_uc010rwv.2_Missense_Mutation_p.G27R|DRD2_uc001poa.4_Missense_Mutation_p.G27R|DRD2_uc001pob.4_Missense_Mutation_p.G27R|DRD2_uc009yyr.1_Missense_Mutation_p.G27R	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	27					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TCCGCCTTCCCGTCTGACCCG	0.582000														56			19		0	0	0.001523	0	0
RSPH3	83861	broad.mit.edu	37	6	159420551	159420551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:159420551C>T	uc003qrx.3	-	0	648	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	RSPH3_uc010kju.3_Missense_Mutation_p.R153Q	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA.	153										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GCTCGGGGCCCGAGAGGTGCG	0.662000														62			10		0	0	0.000673	0	0
DOCK2	1794	broad.mit.edu	37	5	169454876	169454876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:169454876G>A	uc003maf.3	+	33	3471	c.3391G>A	c.(3391-3393)Gaa>Aaa	p.E1131K	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.E623K|MIR378E_uc021yhn.1_5'Flank	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1131	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTTGAAAACGAAATCATCCT	0.453000														75			21		0	0	0.002299	0	0
CMYA5	202333	broad.mit.edu	37	5	79026497	79026497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:79026497G>A	uc003kgc.3	+	1	1981	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	637	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAGAATGAGGAATTTGAGGC	0.463000														64			16		0	0	0.006122	0	0
TAAR2	9287	broad.mit.edu	37	6	132938515	132938515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:132938515G>A	uc003qdl.1	-	1	830	c.830C>T	c.(829-831)cCt>cTt	p.P277L	TAAR2_uc010kfr.1_Missense_Mutation_p.P232L	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	277						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GAAGAAACAAGGAAACCAACA	0.328000														24			9		0	0	0.000673	0	0
MIA2	117153	broad.mit.edu	37	14	39717188	39717188	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:39717188C>T	uc001wux.3	+	3	1604	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	MIA2_uc010amy.2_Silent_p.F401F	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	470						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		CTTGGAACTTCCAGAACATTC	0.318000														74			21		0	0	0.003330	0	0
NTRK3	4916	broad.mit.edu	37	15	88476383	88476383	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:88476383C>T	uc002bme.2	-	15	2055	c.1749G>A	c.(1747-1749)aaG>aaA	p.K583K	NTRK3_uc002bmh.2_Silent_p.K575K|NTRK3_uc002bmf.2_Silent_p.K583K|NTRK3_uc021sua.1_Silent_p.K575K|NTRK3_uc010upl.1_Silent_p.K485K|NTRK3_uc010bnh.1_Silent_p.K575K	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	583	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTGGAAATCCTTCCGGGCAG	0.567000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				31			25		0	0	0.001061	0	0
TRPC5	7224	broad.mit.edu	37	X	111097218	111097218	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:111097218G>A	uc004epl.1	-	3	1936	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	TRPC5_uc004epm.1_Silent_p.F339F	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	339					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						TGGGAAACAGGAACCCAATGG	0.507000														10			14		0	0	0.002450	0	0
MIR1275	100302123	broad.mit.edu	37	6	33967758	33967758	+	RNA	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:33967758C>T	uc021yyr.1	-	0		c.71G>A								Homo sapiens microRNA 1275 (MIR1275), microRNA.																		TTCCCTCTGCCTTGGGGAAAA	0.517000														44			12		0	0	0.001855	0	0
HINFP	25988	broad.mit.edu	37	11	119001634	119001634	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:119001634C>T	uc001pvp.3	+	3	625	c.381C>T	c.(379-381)gaC>gaT	p.D127D	HINFP_uc010rzb.2_Silent_p.D127D|HINFP_uc021qrj.1_Silent_p.D127D|HINFP_uc001pvq.3_Silent_p.D127D|HINFP_uc001pvr.3_5'Flank	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	127					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATATCCCTGACCACTTCCTGT	0.577000														55			12		0	0	0.000978	0	0
CELSR3	1951	broad.mit.edu	37	3	48696988	48696988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:48696988C>T	uc003cuf.1	-	2	3290	c.3290G>A	c.(3289-3291)cGg>cAg	p.R1097Q	CELSR3_uc003cul.3_Missense_Mutation_p.R1027Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1027	Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TACTGCCTCCCGGTCTAGCCG	0.552000														79			20		0	0	0.001216	0	0
ANK3	288	broad.mit.edu	37	10	61834589	61834589	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:61834589T>C	uc001jky.3	-	36	6388	c.6050A>G	c.(6049-6051)cAa>cGa	p.Q2017R	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.	2017					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						TGCTTTTACTTGCACTCTCTC	0.423000														96			34		0	0	0.004289	0	0
OR7C2	26658	broad.mit.edu	37	19	15053071	15053071	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:15053071C>T	uc010xoc.2	+	0	771	c.771C>T	c.(769-771)gtC>gtT	p.V257V		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GCCTTGGGGTCTATCTCAGTT	0.547000														99			26		0	0	0.003954	0	0
OR10G7	390265	broad.mit.edu	37	11	123909597	123909597	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:123909597G>A	uc001pzq.1	-	0	112	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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)		AGGTTCCCCAGCACAGTGAGC	0.572000														70			10		0	0	0.001855	0	0
CFTR	1080	broad.mit.edu	37	7	117180347	117180347	+	Missense_Mutation	SNP	C	T	T	rs144720913		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:117180347C>T	uc003vjd.3	+	7	1195	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	355	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.P355S(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCGGCAATTTCCCTGGGCTGT	0.403000									Cystic Fibrosis					93			17		0	0	0.004007	0	0
DNMT3L	29947	broad.mit.edu	37	21	45666423	45666423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:45666423C>T	uc002zeg.1	-	11	1502	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	DNMT3L_uc002zeh.1_Missense_Mutation_p.E341K	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	340					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	p.E341delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AATTCTTCTTCCGAAACCAGA	0.617000														27			7		0	0	0.003080	0	0
CDH24	64403	broad.mit.edu	37	14	23517672	23517672	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:23517672G>A	uc001wil.3	-	12	2237	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F	CDH24_uc010akf.3_Silent_p.F621F	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	659					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCAGGGCCACGAAGAGCACCA	0.667000														58			10		0	0	0.001368	0	0
ODZ1	10178	broad.mit.edu	37	X	123785874	123785874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:123785874G>A	uc010nqy.3	-	7	1533	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	ODZ1_uc011muj.2_Missense_Mutation_p.S489L|ODZ1_uc004euj.3_Missense_Mutation_p.S490L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	490					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			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						CTCCTGAAGCGAAGTTAAGAT	0.428000														34			18		0	0	0.001216	0	0
VPS13B	157680	broad.mit.edu	37	8	100287445	100287445	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:100287445C>T	uc003yiv.3	+	18	2898	c.2787C>T	c.(2785-2787)atC>atT	p.I929I	VPS13B_uc003yiw.3_Silent_p.I929I|VPS13B_uc003yiu.1_Silent_p.I929I|VPS13B_uc003yix.1_Silent_p.I400I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	929					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)			CCTTCACAATCCAAGTTCCAC	0.398000														107			24		0	0	0.002096	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6080809	6080809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:6080809G>A	uc003spp.3	-	8	979	c.833C>T	c.(832-834)tCc>tTc	p.S278F	EIF2AK1_uc003spq.3_Missense_Mutation_p.S277F|EIF2AK1_uc011jwm.1_Missense_Mutation_p.S154F|EIF2AK1_uc003spr.1_Missense_Mutation_p.S70F	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	278	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AAAGATAATGGATGAGCTGCT	0.388000														116			18		0	0	0.001216	0	0
abParts	0	broad.mit.edu	37	14	106725627	106725627	+	RNA	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:106725627G>A	uc021ser.1	-	926		c.21986C>T								Parts of antibodies, mostly variable regions.																		ATAGCCACAAGAAAAAGCCAG	0.438000														129			10		0	0	0.001855	0	0
XYLT1	64131	broad.mit.edu	37	16	17294482	17294482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:17294482C>T	uc002dfa.3	-	3	1028	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	315					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.E315K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACGGAGTCCTCGTCCCACTGC	0.572000														115			30		0	0	0.002445	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250357	140250357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140250357G>A	uc003lia.2	+	0	2527	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	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_uc011dae.2_Missense_Mutation_p.E557K	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAGAACGACAA	0.677000														135			36		0	0	0.004878	0	0
C10orf118	55088	broad.mit.edu	37	10	115922738	115922739	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:115922738_115922739GG>AA	uc001lbb.1	-	1	941_942	c.289_290CC>TT	c.(289-291)cct>TTt	p.P97F	C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Missense_Mutation_p.P97F|C10orf118_uc001lbd.3_Missense_Mutation_p.P97F|C10orf118_uc001lbe.3_Missense_Mutation_p.P97F	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	97										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ATTTCCACTAGGAAAATTAGCT	0.347000														81			13		0	0	0.004672	0	0
OR11H12	440153	broad.mit.edu	37	14	19377716	19377716	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:19377716C>T	uc010tkp.2	+	0	123	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F41L(2)|p.I40I(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCAGATCTTCCTCTTCTCAC	0.423000														93			18		0	0	0.002299	0	0
ECT2L	345930	broad.mit.edu	37	6	139222119	139222119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:139222119C>T	uc003qif.2	+	20	2774	c.2449C>T	c.(2449-2451)Ctc>Ttc	p.L817F	ECT2L_uc021zfx.1_Missense_Mutation_p.L817F|ECT2L_uc011edq.1_Missense_Mutation_p.L671F	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	817					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCTTTTCCTCTTCAATGA	0.418000			"""N, Splice, Mis"""		ETP ALL									26			11		0	0	0.000673	0	0
GPR75	10936	broad.mit.edu	37	2	54081434	54081434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:54081434G>A	uc021vhn.1	-	0	460	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Missense_Mutation_p.R154C	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	154						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAGGCCGTGCGATTAGGCTGT	0.562000														71			18		0	0	0.001216	0	0
MYH4	4622	broad.mit.edu	37	17	10353807	10353807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:10353807C>T	uc002gmn.3	-	29	4255	c.4144G>A	c.(4144-4146)Gac>Aac	p.D1382N	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1382					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T1381T(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						TGGATGGCGTCCGTCTCGTAC	0.537000														129			18		0	0	0.001216	0	0
SGCZ	137868	broad.mit.edu	37	8	14412356	14412356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:14412356C>T	uc003wwq.3	-	1	779	c.119G>A	c.(118-120)gGa>gAa	p.G40E	SGCZ_uc010lss.3_Missense_Mutation_p.G27E	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	27					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCCATAAATTCCCACTGGGTA	0.383000														166			28		0	0	0.001512	0	0
NF1	4763	broad.mit.edu	37	17	29486063	29486063	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:29486063T>A	uc002hgg.3	+	2	623	c.240T>A	c.(238-240)taT>taA	p.Y80*	NF1_uc002hge.2_Nonsense_Mutation_p.Y80*|NF1_uc002hgf.2_Nonsense_Mutation_p.Y80*|NF1_uc002hgh.3_Nonsense_Mutation_p.Y80*|NF1_uc010csn.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	80			Y -> C.|Y -> S (in dbSNP:rs4795581).		MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.L79*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAATTTATATCTCTCTCAGT	0.328000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				32			10		0	0	0.000443	0	0
GABRG2	2566	broad.mit.edu	37	5	161580116	161580116	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:161580116C>T	uc010jjc.3	+	10	1648	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	GABRG2_uc003lyy.4_Silent_p.I390I|GABRG2_uc003lyz.4_Silent_p.I382I|GABRG2_uc011dej.2_Silent_p.I287I	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	382	Interaction with GABARAP (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.E430D(1)|p.E430*(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCATTGATATCCGCCCAAGAT	0.488000														65			12		0	0	0.002450	0	0
DNAH1	25981	broad.mit.edu	37	3	52378581	52378581	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:52378581T>A	uc011bef.2	+	8	1623	c.1362T>A	c.(1360-1362)ttT>ttA	p.F454L	DNAH1_uc003ddt.1_Missense_Mutation_p.F454L	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	454	Stem (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)		AGATCAACTTTGACCACGTTG	0.567000														40			5		0	0	0.000602	0	0
EXOC7	23265	broad.mit.edu	37	17	74084194	74084194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:74084194C>T	uc002jqs.3	-	11	1557	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	EXOC7_uc010dgv.2_Missense_Mutation_p.D384N|EXOC7_uc010wsv.2_Missense_Mutation_p.D396N|EXOC7_uc010wsw.2_Missense_Mutation_p.D460N|EXOC7_uc002jqq.3_Missense_Mutation_p.D437N|EXOC7_uc010wsx.2_Missense_Mutation_p.D429N|EXOC7_uc002jqr.3_Missense_Mutation_p.D406N	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	488					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TACTCCTTGTCCGGGTCATTC	0.632000														90			44		0	0	0.003610	0	0
ADH1B	125	broad.mit.edu	37	4	100237204	100237204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:100237204G>A	uc003hus.4	-	4	502	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	ADH1B_uc003hut.4_Missense_Mutation_p.H100Y|ADH1B_uc011ceh.2_Intron|ADH1B_uc011cei.1_Missense_Mutation_p.H100Y	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	140					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCAAGGAAGTGGTGAATGGGC	0.572000														58			13		0	0	0.001368	0	0
TPTE	7179	broad.mit.edu	37	21	10934997	10934997	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:10934997C>T	uc002yip.1	-	15	1164	c.796_splice	c.e15-1	p.E266_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.E248_splice|TPTE_uc002yir.1_Splice_Site_p.E228_splice|TPTE_uc010gkv.1_Splice_Site_p.E128_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	266	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGCACAACTTCCTAAAAAAGA	0.333000														140			6		0	0	0.001168	0	0
USP29	57663	broad.mit.edu	37	19	57640915	57640915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:57640915G>A	uc002qny.3	+	3	1228	c.872G>A	c.(871-873)gGa>gAa	p.G291E	USP29_uc021vci.1_Missense_Mutation_p.G291E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	291					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.G291R(1)		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)		CCCAATTTGGGAAACACCTGT	0.473000														29			11		0	0	0.000673	0	0
CLEC4C	170482	broad.mit.edu	37	12	7899916	7899916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:7899916C>T	uc001qtg.1	-	0	203	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	CLEC4C_uc001qth.1_Missense_Mutation_p.R10Q|CLEC4C_uc001qti.1_Missense_Mutation_p.R10Q	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	10					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		GTGCTTACCTCGGTCTTGAGG	0.493000														125			19		0	0	0.002780	0	0
ANK3	288	broad.mit.edu	37	10	61846547	61846547	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:61846547G>A	uc001jky.3	-	29	3974	c.3636C>T	c.(3634-3636)ttC>ttT	p.F1212F	ANK3_uc001jkw.3_Silent_p.F346F|ANK3_uc009xpa.3_Silent_p.F346F|ANK3_uc001jkx.3_Silent_p.F390F|ANK3_uc010qih.2_Silent_p.F1213F|ANK3_uc001jkz.4_Silent_p.F1206F|ANK3_uc001jla.1_Silent_p.F278F|ANK3_uc001jlb.1_Silent_p.F730F	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1212					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						TTGGTTTATGGAATTTCCGTC	0.468000														63			7		0	0	0.000443	0	0
ITSN1	6453	broad.mit.edu	37	21	35174747	35174748	+	Splice_Site	DNP	GG	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:35174747_35174748GG>TT	uc002yta.1	+	20	2587	c.2319_splice	c.e20+1	p.W773_splice	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Intron|ITSN1_uc002ysy.3_Intron|ITSN1_uc002ysx.3_Intron|ITSN1_uc002yth.4_Intron|ITSN1_uc002ysz.3_Intron|ITSN1_uc010gmg.3_Intron|ITSN1_uc010gmh.3_Intron|ITSN1_uc002ysw.3_Splice_Site_p.W773_splice|ITSN1_uc010gmi.3_Splice_Site_p.W736_splice|ITSN1_uc002ytb.1_Intron|ITSN1_uc002ytc.1_Intron|ITSN1_uc010gmk.3_Splice_Site_p.W736_splice|ITSN1_uc010gml.3_Intron|ITSN1_uc002ytd.3_Intron|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Intron|ITSN1_uc002yte.3_Splice_Site_p.W707_splice|ITSN1_uc021wip.1_Intron|ITSN1_uc002ytf.1_Splice_Site	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	773	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AAAGGGGAATGGGTAAGTGTTG	0.381000														175			6		0	0	0.004672	0	0
UNC5D	137970	broad.mit.edu	37	8	35542226	35542226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:35542226G>A	uc003xjr.2	+	5	1206	c.878G>A	c.(877-879)gGa>gAa	p.G293E	UNC5D_uc003xjs.2_Missense_Mutation_p.G288E|UNC5D_uc003xjt.1_Missense_Mutation_p.G62E	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	293	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTTTGTGAGGGAATGTCAGTG	0.502000														120			22		0	0	0.002299	0	0
KCNH7	90134	broad.mit.edu	37	2	163250955	163250955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:163250955C>T	uc002uch.2	-	11	2883	c.2654G>A	c.(2653-2655)gGa>gAa	p.G885E		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	885					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACAGTTGTCTCCTTCTGAATC	0.333000														69			14		0	0	0.004990	0	0
SMG9	56006	broad.mit.edu	37	19	44254780	44254780	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:44254780C>T	uc002oxj.2	-	1	457	c.114G>A	c.(112-114)gaG>gaA	p.E38E	SMG9_uc002oxk.2_Silent_p.E38E|SMG9_uc010eiy.1_Silent_p.E38E	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	Homo sapiens smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG9), mRNA.	38					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TGTAGTCCCTCTCCCGACCAC	0.587000														66			14		0	0	0.004007	0	0
LRCH4	4034	broad.mit.edu	37	7	100174718	100174718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:100174718G>A	uc003uvj.3	-	11	1408	c.1355C>T	c.(1354-1356)gCc>gTc	p.A452V	LRCH4_uc010lgz.3_Intron|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	452					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTGTGCATGGCTTGAGTGGA	0.602000														71			9		0	0	0.000673	0	0
MAN2B2	23324	broad.mit.edu	37	4	6596261	6596261	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:6596261G>A	uc003gjf.1	+	7	895	c.859_splice	c.e7-1	p.G287_splice	MAN2B2_uc003gje.1_Splice_Site_p.G287_splice|MAN2B2_uc011bwf.1_Intron	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	287					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GTCCCTGCAGGGATGTGACAA	0.637000														30			6		0	0	0.001984	0	0
CELSR3	1951	broad.mit.edu	37	3	48697368	48697368	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:48697368G>A	uc003cuf.1	-	2	2910	c.2910C>T	c.(2908-2910)aaC>aaT	p.N970N	CELSR3_uc003cul.3_Silent_p.N900N	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	900	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTGGGGCAGGTTGTCCTCCA	0.522000														26			15		0	0	0.002450	0	0
SEMG2	6407	broad.mit.edu	37	20	43852009	43852009	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:43852009C>A	uc010ggz.3	+	1	1793	c.1736C>A	c.(1735-1737)cCa>cAa	p.P579Q	SEMG2_uc002xnk.3_Missense_Mutation_p.P579Q|SEMG2_uc002xnl.3_Missense_Mutation_p.P459Q	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	579					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)				GACAGAAATCCAATATCTACA	0.393000														39			4		0.00116845	0.00249426	0.001168	1	0
FCRL5	83416	broad.mit.edu	37	1	157514075	157514075	+	Missense_Mutation	SNP	G	T	T	rs145991029		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:157514075G>T	uc009wsm.3	-	4	979	c.821C>A	c.(820-822)cCg>cAg	p.P274Q	FCRL5_uc001fqu.3_Missense_Mutation_p.P274Q|FCRL5_uc010phv.1_Missense_Mutation_p.P274Q|FCRL5_uc010phw.1_Missense_Mutation_p.P189Q|FCRL5_uc001fqv.1_Missense_Mutation_p.P274Q|FCRL5_uc010phx.2_Missense_Mutation_p.P25Q	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	274						integral to membrane|plasma membrane	receptor activity	p.P274T(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCAGGATCTCGGGCTGTCAGA	0.512000														172			5		0.00116845	0.00249426	0.001168	1	0
USH2A	7399	broad.mit.edu	37	1	216348630	216348630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:216348630G>A	uc001hku.1	-	20	4978	c.4591C>T	c.(4591-4593)Ccc>Tcc	p.P1531S	USH2A_uc001hkv.3_Missense_Mutation_p.P1531S	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1531	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P1531L(1)		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)		GTGGAGCTGGGAAATTTACAA	0.403000										HNSCC(13;0.011)				27			5		0	0	0.000602	0	0
TMEM38B	55151	broad.mit.edu	37	9	108536265	108536265	+	Silent	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:108536265A>G	uc004bcu.1	+	5	897	c.780A>G	c.(778-780)gcA>gcG	p.A260A	TMEM38B_uc010mtn.1_3'UTR	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	260						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						AAAGTGAAGCAAAGTCACCTT	0.398000														57			16		0	0	0.003163	0	0
SVIL	6840	broad.mit.edu	37	10	29821661	29821661	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:29821661G>A	uc001iut.1	-	7	2388	c.1635C>T	c.(1633-1635)acC>acT	p.T545T	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Silent_p.T545T	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	545					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACAGAGAGCGGGTACGGACCT	0.567000														121			27		0	0	0.001512	0	0
RNF213	57674	broad.mit.edu	37	17	78327434	78327434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:78327434G>A	uc002jyh.2	+	34	10836	c.10693G>A	c.(10693-10695)Gga>Aga	p.G3565R	RNF213_uc021uen.1_Missense_Mutation_p.G3516R|LOC100294362_uc002jyi.2_3'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGAGAAGGTGGGAAAGGAAAC	0.557000														82			22		0	0	0.002780	0	0
MARS	4141	broad.mit.edu	37	12	57884380	57884380	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:57884380G>A	uc001sog.3	+	6	877	c.723G>A	c.(721-723)gaG>gaA	p.E241E	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Silent_p.E114E|MARS_uc010srq.1_Silent_p.E7E	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	241					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGCTTGGGAGAAGGGCCTAG	0.527000														116			26		0	0	0.001786	0	0
NREP	9315	broad.mit.edu	37	5	111066733	111066734	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:111066733_111066734GG>AA	uc011cvr.2	-	3	415_416	c.223_224CC>TT	c.(223-225)cct>TTt	p.P75F	NREP_uc011cvs.2_Missense_Mutation_p.P65F|LOC100505678_uc021ych.1_Intron|NREP_uc003kpk.3_Intron|NREP_uc003kpl.3_Missense_Mutation_p.P31F|NREP_uc003kpm.3_Missense_Mutation_p.P31F|NREP_uc011cvk.2_Missense_Mutation_p.P31F|NREP_uc011cvl.2_Missense_Mutation_p.P31F|NREP_uc011cvm.2_Missense_Mutation_p.P31F|NREP_uc011cvn.2_Missense_Mutation_p.P31F|NREP_uc011cvo.2_Missense_Mutation_p.P31F|NREP_uc011cvp.2_Missense_Mutation_p.P31F|NREP_uc011cvq.2_Missense_Mutation_p.P31F	NM_001142475	NP_001135947	Q16612	NP311_HUMAN	Homo sapiens neuronal regeneration related protein homolog (rat) (NREP), transcript variant 3, mRNA.	31						cytoplasm		p.P31L(1)|p.P75L(1)									CTTTGGGACAGGAAGTCTTCCC	0.460000														35			5		0	0	0.004672	0	0
OR10G9	219870	broad.mit.edu	37	11	123893831	123893831	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:123893831C>T	uc010sad.2	+	0	112	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		GCTCACTGTGCTGGGGAACCT	0.572000														116			7		0	0	0.004990	0	0
CCBL1	883	broad.mit.edu	37	9	131600646	131600646	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:131600646C>T	uc004bwh.3	-	4	387	c.202_splice	c.e4-1	p.G68_splice	CCBL1_uc004bwg.3_Intron|CCBL1_uc010myn.3_Splice_Site_p.G68_splice|CCBL1_uc004bwj.3_Intron|CCBL1_uc004bwi.3_Splice_Site|CCBL1_uc011mbl.2_Splice_Site_p.G162_splice	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	68					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)	GGTGGGTAACCCTGCCAGGAC	0.592000														21			7		0	0	0.003080	0	0
KIF1A	547	broad.mit.edu	37	2	241737089	241737089	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:241737089G>A	uc010fzk.3	-	1	328	c.81C>T	c.(79-81)atC>atT	p.I27I	KIF1A_uc002vzy.3_Silent_p.I27I|KIF1A_uc002vzz.2_Silent_p.I27I	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	27	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACATCTGAATGATGCACTTGG	0.627000														26			5		0	0	0.001984	0	0
SMARCC1	6599	broad.mit.edu	37	3	47629743	47629743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:47629743G>A	uc003crq.2	-	27	3392	c.3274C>T	c.(3274-3276)Cct>Tct	p.P1092S	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.P983S	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	1092	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GGAGGCGGAGGGACCCCATCT	0.602000														53			11		0	0	0.001855	0	0
C10orf35	219738	broad.mit.edu	37	10	71391546	71391546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:71391546C>T	uc001jpq.4	+	2	217	c.47C>T	c.(46-48)cCc>cTc	p.P16L		NM_145306	NP_660349	Q96D05	CJ035_HUMAN	Homo sapiens chromosome 10 open reading frame 35 (C10orf35), mRNA.	16						integral to membrane		p.P16L(2)		breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GATGACGACCCCCGAGTGAGG	0.597000														24			5		0	0	0.001984	0	0
SLC10A4	201780	broad.mit.edu	37	4	48487027	48487027	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:48487027G>A	uc003gyc.2	+	1	888	c.669G>A	c.(667-669)tgG>tgA	p.W223*		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	223						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCTGGGCTTGGATCAACACCC	0.552000														162			35		0	0	0.004289	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237071	140237071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140237071G>A	uc003lhx.2	+	0	1438	c.1438G>A	c.(1438-1440)Gac>Aac	p.D480N	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_Missense_Mutation_p.D480N|PCDHAC2_uc011dad.2_Missense_Mutation_p.D480N	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	495	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGCGTGGGACGCGGACGC	0.657000														115			18		0	0	0.000958	0	0
RTN2	6253	broad.mit.edu	37	19	45998060	45998060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:45998060C>T	uc002pcb.3	-	2	513	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	RTN2_uc002pcc.3_Missense_Mutation_p.E95K|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	95						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCTCGTGGTTCCGAGACTGAG	0.677000														38			7		0	0	0.003080	0	0
ARMC9	80210	broad.mit.edu	37	2	232146835	232146835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:232146835G>A	uc002vrq.4	+	16	1727	c.1615G>A	c.(1615-1617)Gca>Aca	p.A539T	ARMC9_uc002vrp.4_Missense_Mutation_p.A539T|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	539							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCGTGAGGAAGCAAGAGCAAT	0.448000														107			25		0	0	0.004656	0	0
RPIA	22934	broad.mit.edu	37	2	89036100	89036100	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:89036100C>T	uc002ste.3	+	6	686	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_144563	NP_653164	P49247	RPIA_HUMAN	Homo sapiens ribose 5-phosphate isomerase A (RPIA), mRNA.	215					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GAATCCCCATCGAGGTCATCC	0.493000														85			11		0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9061891	9061891	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:9061891A>C	uc002mkp.3	-	2	25759	c.25555T>G	c.(25555-25557)Ttt>Gtt	p.F8519V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8521	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T8518N(1)		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						CCTGACCAAAAGGTTGTTGTT	0.498000														88			16		0	0	0.006122	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331401	55331401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:55331401G>A	uc002qhl.4	+	3	652	c.589G>A	c.(589-591)Ggt>Agt	p.G197S	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.G197S|KIR3DL2_uc010esf.3_Missense_Mutation_p.G102S|KIR3DL2_uc021vbo.1_Missense_Mutation_p.G197S|KIR3DL2_uc002qhk.4_Missense_Mutation_p.G197S			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	197	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)		CAGATGCTACGGTTCTGTTAC	0.537000														116			27		0	0	0.002445	0	0
SECISBP2	79048	broad.mit.edu	37	9	91949551	91949551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:91949551C>T	uc004aqj.1	+	6	1075	c.995C>T	c.(994-996)gCa>gTa	p.A332V	SECISBP2_uc010mqn.1_Intron|SECISBP2_uc004aqi.1_Intron|SECISBP2_uc010mqo.1_Missense_Mutation_p.A37V|SECISBP2_uc004aqk.1_Missense_Mutation_p.A259V|SECISBP2_uc011ltk.1_Missense_Mutation_p.A331V|SECISBP2_uc011ltl.1_Missense_Mutation_p.A264V	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	332					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GCTTCATCAGCAGATCCTAAA	0.368000														45			17		0	0	0.004007	0	0
ZNF230	7773	broad.mit.edu	37	19	44515263	44515263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:44515263C>T	uc002oyb.1	+	4	1323	c.1072C>T	c.(1072-1074)Cac>Tac	p.H358Y		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCAGCGAATCCACAGTGGAGA	0.443000														60			17		0	0	0.004990	0	0
ASB10	136371	broad.mit.edu	37	7	150873298	150873298	+	Silent	SNP	G	A	A	rs138510080		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:150873298G>A	uc003wjm.1	-	4	1566	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	ASB10_uc003wjl.1_Silent_p.S397S|ASB10_uc003wjn.1_Silent_p.S420S	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	435	SOCS box.				intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCAGGTGGGAGCGGAGCG	0.657000														50			8		0	0	0.004482	0	0
HPS4	89781	broad.mit.edu	37	22	26860503	26860503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:26860503C>T	uc003acl.3	-	10	1752	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	HPS4_uc003aci.3_Missense_Mutation_p.E360K|HPS4_uc003acj.3_Missense_Mutation_p.E229K|HPS4_uc003ack.3_Missense_Mutation_p.E156K|HPS4_uc003acn.3_Missense_Mutation_p.E211K|HPS4_uc010gvd.1_Missense_Mutation_p.E383K|HPS4_uc003ach.3_Missense_Mutation_p.E100K	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	365					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCGAGTTCTTCTTGGAGAAAG	0.537000									Hermansky-Pudlak syndrome					89			14		0	0	0.002450	0	0
CNPY3	10695	broad.mit.edu	37	6	42903379	42903379	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:42903379G>T	uc003ota.4	+	2	792	c.343G>T	c.(343-345)Gag>Tag	p.E115*	CNPY3_uc003osy.2_Non-coding_Transcript|CNPY3_uc003otb.4_Nonsense_Mutation_p.E26*	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	Homo sapiens canopy 3 homolog (zebrafish) (CNPY3), mRNA.	115	Saposin B-type.				innate immune response	endoplasmic reticulum				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)			CCTGCACAAGGAGAGGACCGG	0.527000														69			12		1.5842e-08	3.41022e-08	0.001855	1	0
ITGA1	3672	broad.mit.edu	37	5	52223444	52223444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:52223444C>T	uc003jou.3	+	19	3058	c.2644C>T	c.(2644-2646)Cat>Tat	p.H882Y	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.H413Y	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	882					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGAATCTAATCATAATATCAC	0.348000														97			16		0	0	0.001216	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43231471	43231471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:43231471G>A	uc003bdd.2	-	3	510	c.290C>T	c.(289-291)tCc>tTc	p.S97F	ARFGAP3_uc010gzf.2_Intron|ARFGAP3_uc011apu.1_Intron	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	97	Arf-GAP.				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GTCATTGGTGGAACACCCATG	0.463000														59			20		0	0	0.001882	0	0
NUP210L	91181	broad.mit.edu	37	1	154018830	154018830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:154018830C>T	uc001fdw.3	-	25	3571	c.3499G>A	c.(3499-3501)Gaa>Aaa	p.E1167K	NUP210L_uc009woq.3_Missense_Mutation_p.E76K|NUP210L_uc010peh.2_Missense_Mutation_p.E1167K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1167						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGAACAACTTCAATCTGTACT	0.478000														33			13		0	0	0.001855	0	0
FER1L6	654463	broad.mit.edu	37	8	125103762	125103762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:125103762G>A	uc003yqw.3	+	33	4696	c.4490G>A	c.(4489-4491)gGg>gAg	p.G1497E	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1497						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)			TTTCACCCTGGGAAAATACAG	0.458000														56			13		0	0	0.001855	0	0
DENND2C	163259	broad.mit.edu	37	1	115079119	115079119	+	RNA	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:115079119G>A	uc001eez.3	-	28		c.4524C>T				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		GCAAGGTGATGGAAGTGGGCA	0.483000														97			16		0	0	0.001882	0	0
KRT80	144501	broad.mit.edu	37	12	52585451	52585452	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:52585451_52585452AG>GA	uc001rzx.3	-	0	333_334	c.235_236CT>TC	c.(235-237)ctg>TCg	p.L79S	KRT80_uc001rzy.3_Missense_Mutation_p.L79S	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	79	Head.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CTGGTTCTTCAGCTGCTGAACA	0.564000														87			21		0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	215824121	215824121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:215824121C>T	uc001hku.1	-	64	14543	c.14156G>A	c.(14155-14157)gGa>gAa	p.G4719E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4719	Fibronectin type-III 32.				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)		GGGGGCTTTTCCTGCAGAATT	0.488000										HNSCC(13;0.011)				84			20		0	0	0.001216	0	0
SPEF2	79925	broad.mit.edu	37	5	35795863	35795863	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:35795863C>G	uc003jjo.3	+	32	4907	c.4796C>G	c.(4795-4797)cCc>cGc	p.P1599R	SPEF2_uc003jjp.1_Missense_Mutation_p.P1085R|SPEF2_uc003jjr.3_Missense_Mutation_p.P654R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1599					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTCTTGAACCCCTTCCATTT	0.318000														85			16		0	0	0.001523	0	0
C2orf16	84226	broad.mit.edu	37	2	27800226	27800226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:27800226G>A	uc002rkz.4	+	0	838	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	263										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)					TGTGGAATATGAAGGGATTAC	0.453000														92			22		0	0	0.001523	0	0
TP63	8626	broad.mit.edu	37	3	189526134	189526134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:189526134C>T	uc003fry.2	+	3	487	c.398C>T	c.(397-399)cCc>cTc	p.P133L	TP63_uc003frx.2_Missense_Mutation_p.P133L|TP63_uc003frz.2_Missense_Mutation_p.P133L|TP63_uc010hzc.1_Missense_Mutation_p.P133L|TP63_uc003fsa.2_Missense_Mutation_p.P39L|TP63_uc003fsb.2_Missense_Mutation_p.P39L|TP63_uc003fsc.2_Missense_Mutation_p.P39L|TP63_uc003fsd.2_Missense_Mutation_p.P39L|TP63_uc021xir.1_Missense_Mutation_p.P39L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.P14L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	133					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P133S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCCACCAGTCCCTATAACACA	0.607000										HNSCC(45;0.13)				52			14		0	0	0.001855	0	0
PARP16	54956	broad.mit.edu	37	15	65558942	65558942	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:65558942G>A	uc002aoq.3	-	2	731	c.477C>T	c.(475-477)ttC>ttT	p.F159F	PARP16_uc002aoo.3_Silent_p.F159F|PARP16_uc002aop.3_Intron	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	159	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TAATGGAATGGAAGTTTTCTA	0.493000														49			21		0	0	0.003954	0	0
PTCD3	55037	broad.mit.edu	37	2	86352579	86352579	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:86352579A>G	uc002sqw.2	+	11	871	c.805_splice	c.e11-1	p.H269_splice	PTCD3_uc010ytc.1_Splice_Site|PTCD3_uc002sqx.1_Intron	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	269						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CTTTTCCAGCACCGAGCTTAT	0.398000														74			11		0	0	0.001368	0	0
TEP1	7011	broad.mit.edu	37	14	20852297	20852297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:20852297C>T	uc001vxe.3	-	23	3474	c.3434G>A	c.(3433-3435)cGg>cAg	p.R1145Q	TEP1_uc010ahk.3_Missense_Mutation_p.R495Q|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.R1037Q|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1145					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.R1145L(2)		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)		AAGGCGTGGCCGGGCAGGACT	0.652000														55			13		0	0	0.003163	0	0
SLC25A17	10478	broad.mit.edu	37	22	41190565	41190565	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:41190565G>A	uc003azc.3	-	2	275	c.135C>T	c.(133-135)tcC>tcT	p.S45S	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Silent_p.S8S|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Intron	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	45					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GTGTAGTTTTGGATTTTCTTT	0.358000														32			15		0	0	0.000958	0	0
ZNF385A	25946	broad.mit.edu	37	12	54767880	54767881	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:54767880_54767881GG>AA	uc001sfy.3	-	3	352_353	c.297_298CC>TT	c.(295-300)gcccga>gcTTga	p.R100*	ZNF385A_uc009zno.1_Non-coding_Transcript|ZNF385A_uc001sfw.1_Nonsense_Mutation_p.R80*|ZNF385A_uc010sov.1_Nonsense_Mutation_p.R80*|ZNF385A_uc001sfx.1_Nonsense_Mutation_p.R80*|ZNF385A_uc001sfz.3_Nonsense_Mutation_p.R100*	NM_001130967	NP_001124439	Q96PM9	Z385A_HUMAN	Homo sapiens zinc finger protein 385A (ZNF385A), transcript variant 1, mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						TTGACTCGTCGGGCGTGGCGAT	0.579000														40			11		0	0	0.004672	0	0
GPR139	124274	broad.mit.edu	37	16	20043470	20043470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:20043470G>A	uc002dgu.1	-	1	811	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	GPR139_uc010vaw.1_Missense_Mutation_p.R124C	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	217						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCACGGAGACGAAAATTGCTC	0.507000														66			13		0	0	0.001855	0	0
SIM2	6493	broad.mit.edu	37	21	38103419	38103419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:38103419G>A	uc002yvr.2	+	6	873	c.817G>A	c.(817-819)Gac>Aac	p.D273N	SIM2_uc002yvq.3_Missense_Mutation_p.D273N	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	273	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCACGGCTGCGACGTGTTCCA	0.652000														46			17		0	0	0.004990	0	0
GSDMA	284110	broad.mit.edu	37	17	38122528	38122528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:38122528G>A	uc002htl.1	+	2	348	c.230G>A	c.(229-231)gGg>gAg	p.G77E	GSDMA_uc002htm.1_Missense_Mutation_p.G77E	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	77					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ACAGACACTGGGAATTTTGGC	0.542000														44			15		0	0	0.004007	0	0
SH3BP1	23616	broad.mit.edu	37	22	38041403	38041403	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:38041403C>T	uc003ati.3	+	9	1548	c.810C>T	c.(808-810)ttC>ttT	p.F270F	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Silent_p.F270F|SH3BP1_uc003ath.1_Silent_p.F270F|SH3BP1_uc003atj.1_Silent_p.F206F|SH3BP1_uc003atk.1_Silent_p.F184F|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	270					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCACCCACTTCCCCAGGGTGT	0.652000														95			12		0	0	0.003163	0	0
WDR11	55717	broad.mit.edu	37	10	122630798	122630798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:122630798C>T	uc021pzt.1	+	9	1657	c.1411C>T	c.(1411-1413)Cgt>Tgt	p.R471C	WDR11_uc010qte.2_Missense_Mutation_p.R73C|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	471						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTTTGCTATTCGTATGTGTCC	0.473000														62			11		0	0	0.001855	0	0
SPATA16	83893	broad.mit.edu	37	3	172674560	172674560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:172674560G>A	uc003fin.4	-	5	1172	c.988C>T	c.(988-990)Cca>Tca	p.P330S		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	330					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GTCGCAAATGGTGTGTACATA	0.363000														67			13		0	0	0.003163	0	0
KIAA1109	84162	broad.mit.edu	37	4	123113461	123113461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:123113461C>T	uc003ieh.3	+	8	1024	c.979C>T	c.(979-981)Cca>Tca	p.P327S	KIAA1109_uc003iei.1_Missense_Mutation_p.P81S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	327					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						AGACTTGCCTCCATGTTGGGG	0.373000														43			7		0	0	0.004482	0	0
VTN	7448	broad.mit.edu	37	17	26694912	26694912	+	Missense_Mutation	SNP	C	T	T	rs112195186		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:26694912C>T	uc002hbc.3	-	6	1297	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	TMEM199_uc010wah.1_Intron|SEBOX_uc010wai.1_5'Flank|SARM1_uc010waj.1_Intron	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	383	Heparin-binding.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GCTGTGGCCTCGTTGTGAACG	0.612000														13			4		0	0	0.000602	0	0
RGAG1	57529	broad.mit.edu	37	X	109695732	109695732	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:109695732G>A	uc004eor.2	+	2	2133	c.1887G>A	c.(1885-1887)acG>acA	p.T629T	RGAG1_uc011msr.1_Silent_p.T629T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	629										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CGATGTTCACGGAGAAAATGA	0.507000														26			18		0	0	0.000958	0	0
C10orf137	26098	broad.mit.edu	37	10	127412404	127412404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:127412404C>T	uc001liq.1	+	3	702	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	C10orf137_uc001lin.3_Missense_Mutation_p.P137S|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.P137S	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCTGAAAATTCCCTACAGCAA	0.343000														114			9		0	0	0.000978	0	0
C2CD2	25966	broad.mit.edu	37	21	43321859	43321859	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:43321859C>T	uc002yzw.3	-	12	1675	c.1433_splice	c.e12-1	p.E478_splice	C2CD2_uc002yzs.3_Splice_Site|C2CD2_uc002yzt.3_Splice_Site_p.E94_splice|C2CD2_uc002yzu.3_Splice_Site_p.E310_splice|C2CD2_uc002yzv.3_Splice_Site_p.E323_splice|C2CD2_uc002yzx.1_Intron	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	478						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACCAACAATTCTACCAGAAGG	0.443000														21			5		0	0	0.000602	0	0
ZMYND8	23613	broad.mit.edu	37	20	45850049	45850049	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:45850049C>T	uc010zxy.1	-	19	3436	c.3354G>A	c.(3352-3354)tcG>tcA	p.S1118S	ZMYND8_uc010ghq.1_Silent_p.S722S|ZMYND8_uc010ghr.1_Silent_p.S993S|ZMYND8_uc002xst.1_Silent_p.S973S|ZMYND8_uc002xsu.1_Silent_p.S964S|ZMYND8_uc002xsv.1_Silent_p.S1019S|ZMYND8_uc002xsw.1_Silent_p.S797S|ZMYND8_uc002xsx.1_Silent_p.S797S|ZMYND8_uc002xsy.1_Silent_p.S1020S|ZMYND8_uc002xsz.1_Silent_p.S982S|ZMYND8_uc002xta.1_Silent_p.S1091S|ZMYND8_uc002xtb.1_Silent_p.S1065S|ZMYND8_uc002xss.2_Silent_p.S1091S|ZMYND8_uc010zxz.1_Silent_p.S959S|ZMYND8_uc002xtc.1_Silent_p.S1065S|ZMYND8_uc002xtd.1_Silent_p.S1040S|ZMYND8_uc002xte.1_Silent_p.S1045S|ZMYND8_uc010zya.1_Silent_p.S1091S|ZMYND8_uc002xtf.1_Silent_p.S1111S|ZMYND8_uc002xsr.1_Silent_p.S190S	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	1091							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATTGTGTGCTCGAGGAGCTCC	0.552000														34			15		0	0	0.004990	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858523	42858523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:42858523C>T	uc010skv.2	-	6	1600	c.1313G>A	c.(1312-1314)cGa>cAa	p.R438Q	PRICKLE1_uc001rnl.3_Missense_Mutation_p.R438Q|PRICKLE1_uc010skw.2_Missense_Mutation_p.R438Q|PRICKLE1_uc001rnm.3_Missense_Mutation_p.R438Q	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	438					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTCACTGGCTCGAATATCCAT	0.418000														67			10		0	0	0.001368	0	0
FAM5C	339479	broad.mit.edu	37	1	190067643	190067643	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:190067643G>A	uc001gse.1	-	7	2038	c.1806C>T	c.(1804-1806)gaC>gaT	p.D602D	FAM5C_uc010pot.1_Silent_p.D500D	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	602						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCAGGGGTAGGTCCAACTTAG	0.468000														187			40		0	0	0.001485	0	0
TIGD3	220359	broad.mit.edu	37	11	65124431	65124431	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:65124431C>T	uc021qlj.1	+	0	1152	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	TIGD3_uc001odo.4_Silent_p.P384P	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	384					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CACCAGTCCCCGGCGGGCTGA	0.582000														70			20		0	0	0.001216	0	0
FUS	2521	broad.mit.edu	37	16	31195273	31195273	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:31195273C>T	uc002ebf.3	+	3	390	c.285C>T	c.(283-285)tcC>tcT	p.S95S	FUS_uc002ebe.2_Silent_p.S95S|FUS_uc002ebg.3_5'UTR|FUS_uc002ebh.3_Silent_p.S94S|FUS_uc002ebk.1_5'Flank	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	95	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GGCAGCAGTCCTCCTACCCTG	0.582000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									135			24		0	0	0.002299	0	0
SAP130	79595	broad.mit.edu	37	2	128707888	128707888	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:128707888G>A	uc010fmd.2	-	16	2727	c.2595C>T	c.(2593-2595)gcC>gcT	p.A865A	SAP130_uc002tpn.2_Silent_p.A590A|SAP130_uc002tpp.2_Silent_p.A830A	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	830	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCCTTGGGGAGGCACCAGGTG	0.498000														101			25		0	0	0.002780	0	0
OR5H14	403273	broad.mit.edu	37	3	97868996	97868996	+	Missense_Mutation	SNP	C	T	T	rs141600035	by1000genomes	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:97868996C>T	uc003dsg.1	+	0	767	c.767C>T	c.(766-768)gCc>gTc	p.A256V		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGGCCCCTCGCCTTCATGTAT	0.413000														36			9		0	0	0.000443	0	0
GLCCI1	113263	broad.mit.edu	37	7	8124620	8124620	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:8124620A>C	uc003srk.3	+	6	1830	c.1271A>C	c.(1270-1272)gAg>gCg	p.E424A		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	424										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GAGGGATGTGAGCGAGTGAAG	0.453000														65			13		0	0	0.002450	0	0
GPR50	9248	broad.mit.edu	37	X	150348646	150348646	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:150348646C>T	uc010ntg.2	+	1	729	c.591C>T	c.(589-591)ttC>ttT	p.F197F	GPR50_uc011myc.2_Silent_p.F197F	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	197					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GCATCCACTTCGTCCTCCCTC	0.537000														47			27		0	0	0.001512	0	0
PGC	5225	broad.mit.edu	37	6	41715031	41715031	+	Silent	SNP	C	T	T	rs71941720		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:41715031C>T	uc003ora.2	-	0	109	c.42G>A	c.(40-42)ttG>ttA	p.L14L	PGC_uc021yzm.1_Silent_p.L14L	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	14					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CTGCTGCCTCCAAGAGCTGGA	0.602000														43			5		0	0	0.001168	0	0
IGSF9B	22997	broad.mit.edu	37	11	133806053	133806053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:133806053G>A	uc001qgx.4	-	5	947	c.716C>T	c.(715-717)aCc>aTc	p.T239I	IGSF9B_uc001qgy.1_Missense_Mutation_p.T81I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	239	Ig-like 3.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GATGTTGACGGTGATGTTCTC	0.617000														12			4		0	0	0.000248	0	0
PLIN4	729359	broad.mit.edu	37	19	4513458	4513459	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:4513458_4513459CC>TT	uc002mar.1	-	2	471_472	c.471_472GG>AA	c.(469-474)acggtg>acAAtg	p.V158M	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	158	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCAGTGGACACCGTGTCCTTGG	0.639000														37			9		0	0	0.004672	0	0
NEK4	6787	broad.mit.edu	37	3	52780208	52780208	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:52780208G>A	uc003dfq.4	-	9	1899	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	NEK4_uc011bej.2_Nonsense_Mutation_p.R477*|NEK4_uc003dfr.3_Nonsense_Mutation_p.R520*	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	566					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GGCAAAAATCGAGGAGGCGAC	0.413000														67			17		0	0	0.004007	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135095760	135095761	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:135095760_135095761GG>AA	uc010qvc.1	-	16	2816_2817	c.2459_2460CC>TT	c.(2458-2460)gcc>gTT	p.A820V	TUBGCP2_uc001lmf.1_Missense_Mutation_p.A385V|TUBGCP2_uc001lmg.1_Missense_Mutation_p.A792V|TUBGCP2_uc010qvd.1_Missense_Mutation_p.A662V|TUBGCP2_uc009ybk.1_Missense_Mutation_p.A815V|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	792					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CCCGCTCCTCGGCCCCTGCGGG	0.668000														17			4		0	0	0.004672	0	0
ZNF77	58492	broad.mit.edu	37	19	2933775	2933775	+	Silent	SNP	G	A	A	rs140487750		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:2933775G>A	uc002lws.4	-	3	1481	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCTCGAAGGGAGGAGTGAC	0.502000														38			6		0	0	0.001168	0	0
ESRP1	54845	broad.mit.edu	37	8	95680313	95680314	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:95680313_95680314GG>AA	uc003ygq.4	+	9	1251_1252	c.1068_1069GG>AA	c.(1066-1071)aaggaa>aaAAaa	p.E357K	ESRP1_uc003ygr.4_Missense_Mutation_p.E357K|ESRP1_uc003ygs.4_Missense_Mutation_p.E357K|ESRP1_uc003ygt.4_Missense_Mutation_p.E357K|ESRP1_uc003ygu.4_Missense_Mutation_p.E357K|ESRP1_uc003ygv.3_Missense_Mutation_p.E197K|ESRP1_uc003ygw.3_Missense_Mutation_p.E197K	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	357	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTGGGGGAAAGGAAGGCATCCT	0.525000														427			84		0	0	0.004672	0	0
ANK1	286	broad.mit.edu	37	8	41584783	41584783	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:41584783C>T	uc003xok.3	-	4	495	c.411G>A	c.(409-411)caG>caA	p.Q137Q	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.Q137Q|ANK1_uc003xoj.3_Silent_p.Q137Q|ANK1_uc003xol.3_Silent_p.Q137Q|ANK1_uc003xom.3_Silent_p.Q170Q	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	137	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			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)			TGGCTACATTCTGGTTAGCTC	0.463000														42			11		0	0	0.000978	0	0
ZPLD1	131368	broad.mit.edu	37	3	102189258	102189258	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:102189258G>A	uc003dvt.1	+	8	1102	c.1002G>A	c.(1000-1002)agG>agA	p.R334R	ZPLD1_uc003dvs.1_Silent_p.R318R|ZPLD1_uc011bhg.1_Silent_p.R318R	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	318						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACAGAGAAAGGAGAGATGCTG	0.502000														43			9		0	0	0.004482	0	0
ZNF14	7561	broad.mit.edu	37	19	19825193	19825193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:19825193G>A	uc002nnk.1	-	1	261	c.107C>T	c.(106-108)aCc>aTc	p.T36I		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GTTTTTGAAGGTCTCCTGCAT	0.433000														60			17		0	0	0.004007	0	0
PRB2	653247	broad.mit.edu	37	12	11546713	11546713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:11546713C>T	uc010shk.1	-	2	334	c.299G>A	c.(298-300)gGa>gAa	p.G100E		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	0.612000														338			62		0	0	0.003610	0	0
AMBRA1	55626	broad.mit.edu	37	11	46563511	46563511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:46563511C>T	uc001ncv.2	-	7	2100	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	AMBRA1_uc010rgt.1_Missense_Mutation_p.E252K|AMBRA1_uc009ylc.1_Missense_Mutation_p.E686K|AMBRA1_uc001ncu.1_Missense_Mutation_p.E596K|AMBRA1_uc010rgu.1_Missense_Mutation_p.E686K|AMBRA1_uc001ncw.2_Missense_Mutation_p.E596K|AMBRA1_uc001ncx.2_Missense_Mutation_p.E686K	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	616	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGTGAATCCTCCTCAGAGCTC	0.488000														78			5		0	0	0.001168	0	0
OR5M1	390168	broad.mit.edu	37	11	56380166	56380166	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:56380166G>A	uc001nja.1	-	0	813	c.813C>T	c.(811-813)tcC>tcT	p.S271S	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	271					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						CAGTTATTTTGGACTCCTCTA	0.423000														146			47		0	0	0.003214	0	0
FMNL2	114793	broad.mit.edu	37	2	153399278	153399278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:153399278C>T	uc002tye.3	+	2	594	c.227C>T	c.(226-228)cCc>cTc	p.P76L		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	76	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAGAATCCTCCCCATACATAC	0.418000														52			15		0	0	0.006122	0	0
RETSAT	54884	broad.mit.edu	37	2	85577962	85577962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:85577962G>A	uc002spd.3	-	2	729	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.L119F	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	180					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCTCCTTGAGGCCCTGAATG	0.488000														86			20		0	0	0.001216	0	0
WDR49	151790	broad.mit.edu	37	3	167218007	167218007	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:167218007T>C	uc003fev.1	-	13	2213	c.1909A>G	c.(1909-1911)Aaa>Gaa	p.K637E	WDR49_uc003feu.1_Missense_Mutation_p.K462E|WDR49_uc011bpd.1_Missense_Mutation_p.K602E|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	637										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTAAAGTATTTCTCAGGGTCT	0.433000														205			50		0	0	0.003610	0	0
WRNIP1	56897	broad.mit.edu	37	6	2768977	2768977	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:2768977T>A	uc003mtz.3	+	1	1066	c.875T>A	c.(874-876)tTt>tAt	p.F292Y	WRNIP1_uc003mua.3_Missense_Mutation_p.F292Y	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	292					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)				AGCATAAGGTTTGTGACATTA	0.383000														36			12		0	0	0.000978	0	0
NCOR1	9611	broad.mit.edu	37	17	15942761	15942761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:15942761G>A	uc002gpo.3	-	43	7210	c.6941C>T	c.(6940-6942)cCa>cTa	p.P2314L	NCOR1_uc002gpn.3_Missense_Mutation_p.P2211L|NCOR1_uc002gpl.3_Missense_Mutation_p.P329L|NCOR1_uc002gpm.3_Missense_Mutation_p.P834L|NCOR1_uc010vwb.2_Missense_Mutation_p.P898L|NCOR1_uc010coy.3_Missense_Mutation_p.P1222L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	2314	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGAGGTGATGGGTCCCCTTC	0.468000														31			6		0	0	0.001984	0	0
ABHD12B	145447	broad.mit.edu	37	14	51368616	51368616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:51368616C>T	uc001wys.3	+	9	865	c.850C>T	c.(850-852)Cct>Tct	p.P284S	ABHD12B_uc001wyr.3_Missense_Mutation_p.P207S|ABHD12B_uc001wyq.3_Missense_Mutation_p.P177S|ABHD12B_uc010any.3_Non-coding_Transcript	NM_001206673	NP_001193602	Q7Z5M8	AB12B_HUMAN	Homo sapiens abhydrolase domain containing 12B (ABHD12B), transcript variant 1, mRNA.	284							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					AATAATCTTTCCTAATGATGA	0.303000														36			5		0	0	0.001984	0	0
MYOF	26509	broad.mit.edu	37	10	95076544	95076544	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:95076544C>T	uc001kin.3	-	49	5748	c.5625G>A	c.(5623-5625)acG>acA	p.T1875T	MYOF_uc001kio.3_Silent_p.T1862T|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1875					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCGAAATTCCGTTTGGTCAA	0.413000														70			11		0	0	0.001368	0	0
GRIN2B	2904	broad.mit.edu	37	12	13724872	13724872	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:13724872G>A	uc001rbt.2	-	9	2216	c.2037C>T	c.(2035-2037)ccC>ccT	p.P679P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	679					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.P679P(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCGGAAAGGGGGTGAGAAGT	0.478000														40			10		0	0	0.000443	0	0
FRAS1	80144	broad.mit.edu	37	4	79387463	79387463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:79387463G>A	uc003hlb.2	+	49	7571	c.7131G>A	c.(7129-7131)atG>atA	p.M2377I		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2376				K -> E (in Ref. 4; BAA96024).	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						CCTTCACCATGAAAGATATCT	0.547000														47			14		0	0	0.002450	0	0
GPR98	84059	broad.mit.edu	37	5	89990242	89990242	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:89990242C>T	uc003kju.3	+	32	7765	c.7669C>T	c.(7669-7671)Cag>Tag	p.Q2557*	GPR98_uc003kjt.3_Nonsense_Mutation_p.Q263*|GPR98_uc003kjv.3_Nonsense_Mutation_p.Q157*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2557					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)		TTTGAAAAATCAGCCAACCAT	0.383000														137			24		0	0	0.003954	0	0
NFE2	4778	broad.mit.edu	37	12	54686865	54686865	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:54686865G>A	uc009znk.3	-	1	925	c.415C>T	c.(415-417)Caa>Taa	p.Q139*	NFE2_uc001sfq.3_Nonsense_Mutation_p.Q139*|NFE2_uc001sfr.4_Nonsense_Mutation_p.Q139*|NFE2_uc009znl.3_Nonsense_Mutation_p.Q139*	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	139	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGGTCTTCTTGGGGCTTAGGT	0.592000														137			30		0	0	0.002445	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874692	24874692	+	Nonsense_Mutation	SNP	G	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:24874692G>C	uc001isb.2	-	25	5013	c.4526C>G	c.(4525-4527)tCa>tGa	p.S1509*	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1508					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTGTGTTTTGAGTTGTGTGG	0.488000														219			36		0	0	0.001287	0	0
MYH1	4619	broad.mit.edu	37	17	10406151	10406151	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:10406151C>T	uc002gmo.3	-	23	3109	c.3015G>A	c.(3013-3015)gaG>gaA	p.E1005E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1005						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTGGTGGGCCTCCTGGAGAG	0.488000														127			14		0	0	0.003163	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454584	84454584	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr13:84454584C>T	uc001vlk.3	-	0	1945	c.1059G>A	c.(1057-1059)tcG>tcA	p.S353S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	353	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTTTAAACCCGACCCTGGGA	0.537000														40			13		0	0	0.001855	0	0
KLHL15	80311	broad.mit.edu	37	X	24006085	24006085	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:24006085G>A	uc004dba.4	-	3	2024	c.1768C>T	c.(1768-1770)Ctg>Ttg	p.L590L		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	590										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GGAAAATGCAGGTTGCATACT	0.458000														31			19		0	0	0.001523	0	0
WSCD2	9671	broad.mit.edu	37	12	108641991	108641992	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:108641991_108641992CC>TT	uc001tms.3	+	8	2313_2314	c.1569_1570CC>TT	c.(1567-1572)ctccgg>ctTTgg	p.R524W	WSCD2_uc001tmt.3_Missense_Mutation_p.R524W|WSCD2_uc001tmu.3_Missense_Mutation_p.R292W	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	524						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTCAGGGCTCCGGAAGCTCGA	0.604000														58			8		0	0	0.004672	0	0
CYFIP2	26999	broad.mit.edu	37	5	156752589	156752589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:156752589C>T	uc021ygm.1	+	16	2060	c.1922C>T	c.(1921-1923)tCc>tTc	p.S641F	CYFIP2_uc011ddn.2_Missense_Mutation_p.S616F|CYFIP2_uc011ddo.2_Missense_Mutation_p.S446F|CYFIP2_uc021ygn.1_Missense_Mutation_p.S641F|CYFIP2_uc021ygo.1_Missense_Mutation_p.S641F|CYFIP2_uc003lwt.3_Missense_Mutation_p.S545F|CYFIP2_uc011ddp.2_Missense_Mutation_p.S376F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	667					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCGAGATGTCCATGCCCTGG	0.537000														337			54		0	0	0.003610	0	0
PPP4R1	9989	broad.mit.edu	37	18	9549287	9549288	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:9549287_9549288AG>TA	uc002koe.1	-	18	2714_2715	c.2596_2597CT>TA	c.(2596-2598)ctc>TAc	p.L866Y	PPP4R1_uc002kof.2_Missense_Mutation_p.L283Y|PPP4R1_uc010wzo.1_Missense_Mutation_p.L712Y|PPP4R1_uc002kod.1_Missense_Mutation_p.L849Y	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	866					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						ATGCGGCATGAGATGCACAGCA	0.470000														97			28		0	0	0.004672	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102522092	102522092	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:102522092T>A	uc003kod.4	+	26	3760	c.3241T>A	c.(3241-3243)Tat>Aat	p.Y1081N	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.Y1081N|PPIP5K2_uc003kof.3_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	1081					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.D1080Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTACAGGATTATGCTCGTAC	0.502000														65			10		0	0	0.000443	0	0
AHSA2	130872	broad.mit.edu	37	2	61413920	61413920	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:61413920G>A	uc002sbb.2	+	6	1671	c.413G>A	c.(412-414)tGa>tAa	p.*138*	AHSA2_uc002sbc.2_Silent_p.*138*	NM_152392	NP_689605	Q719I0	AHSA2_HUMAN	Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) (AHSA2), mRNA.	0					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CTAAATGGTTGAATTAAAATT	0.328000														21			6		0	0	0.001984	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29957588	29957588	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:29957588C>T	uc003afx.4	-	5	741	c.486G>A	c.(484-486)agG>agA	p.R162R	NIPSNAP1_uc011akp.2_Silent_p.R142R	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), transcript variant 1, mRNA.	162								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GCTGGTTTCTCCTGGACAGCA	0.567000														72			33		0	0	0.003271	0	0
PROL1	58503	broad.mit.edu	37	4	71275517	71275517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:71275517C>T	uc003hfi.3	+	2	646	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	158	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CACAAATCCCCCCACCACTGC	0.478000														60			8		0	0	0.003080	0	0
FANCE	2178	broad.mit.edu	37	6	35423925	35423926	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:35423925_35423926CC>TT	uc003oko.1	+	1	835_836	c.650_651CC>TT	c.(649-651)ccc>cTT	p.P217L	FANCE_uc010jvw.1_Missense_Mutation_p.P217L	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	217	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AAGAGGGTCCCCAAAAGATTAC	0.540000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					44			11		0	0	0.004672	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47634049	47634049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:47634049C>T	uc002xtx.4	+	32	4623	c.4471C>T	c.(4471-4473)Cct>Tct	p.P1491S	ARFGEF2_uc010zyf.2_Missense_Mutation_p.P784S	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1491					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GACATGGAGACCTGTAGGAAT	0.338000														115			26		0	0	0.001512	0	0
NPIPL3	23117	broad.mit.edu	37	16	21416240	21416240	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:21416240G>A	uc021tei.1	-	7	1134	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	LOC23117_uc021tel.1_Intron|LOC23117_uc010bwt.2_Non-coding_Transcript|NPIPL3_uc021tem.1_Silent_p.L320L|NPIPL3_uc002diu.1_Non-coding_Transcript|LOC23117_uc021ten.1_Non-coding_Transcript|NPIPL3_uc010bwu.1_Silent_p.L156L|NPIPL3_uc002dix.1_Silent_p.L339L	NM_130464	NP_569731	Q92617	NPPL3_HUMAN	Homo sapiens nuclear pore complex interacting protein-like 3 (NPIPL3), mRNA.	339						integral to membrane											GAGGTGTCTTGAGATTATCAT	0.557000														95			9		0	0	0.004482	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95709713	95709713	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:95709713C>T	uc003uoc.4	+	15	2017	c.1740C>T	c.(1738-1740)gcC>gcT	p.A580A	DYNC1I1_uc003uod.4_Silent_p.A563A|DYNC1I1_uc003uob.3_Silent_p.A543A|DYNC1I1_uc003uoe.4_Silent_p.A560A|DYNC1I1_uc010lfl.3_Silent_p.A569A	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	580					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.S579S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GGGCATCCGCCCTAAACCGTG	0.463000														81			45		0	0	0.003610	0	0
FFAR3	2865	broad.mit.edu	37	19	35850642	35850642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:35850642C>T	uc002nzd.3	+	1	925	c.850C>T	c.(850-852)Caa>Taa	p.Q284*	FFAR3_uc021usm.1_Nonsense_Mutation_p.Q284*	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	284						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTCCGGGTTCCAAGCCGACTT	0.602000														50			10		0	0	0.001855	0	0
GAP43	2596	broad.mit.edu	37	3	115439675	115439676	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:115439675_115439676CC>TT	uc003ebr.2	+	3	1445_1446	c.771_772CC>TT	c.(769-774)gcccgg>gcTTgg	p.R258W	GAP43_uc003ebq.2_Missense_Mutation_p.R222W	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	222					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGGAAAGTGCCCGGCAGGACGA	0.475000														203			26		0	0	0.004672	0	0
CCDC108	255101	broad.mit.edu	37	2	219874736	219874736	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:219874736G>A	uc002vjl.1	-	26	4464	c.4380C>T	c.(4378-4380)ctC>ctT	p.L1460L		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1460						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTTGAGGAAGAGCAGGCGGC	0.527000														44			17		0	0	0.001216	0	0
RUNX2	860	broad.mit.edu	37	6	45480128	45480128	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:45480128G>A	uc011dvx.2	+	6	1215	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	RUNX2_uc011dvy.2_Silent_p.V335V|RUNX2_uc003oxt.3_Silent_p.V321V	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	335	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCACCGATGTGCCTAGGCGCA	0.587000														50			9		0	0	0.004482	0	0
BAZ2B	29994	broad.mit.edu	37	2	160285724	160285724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:160285724G>A	uc002uao.3	-	10	2647	c.2242C>T	c.(2242-2244)Cca>Tca	p.P748S	BAZ2B_uc002uap.3_Missense_Mutation_p.P746S|BAZ2B_uc002uaq.1_Missense_Mutation_p.P578S|BAZ2B_uc002uar.1_Missense_Mutation_p.P321S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	748	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TATTCCAATGGAATACGCAGT	0.279000														38			4		0	0	0.000602	0	0
CETN1	1068	broad.mit.edu	37	18	580721	580721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:580721G>A	uc002kko.1	+	0	353	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	105	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CACCAAAGAAGAAATCCTGAA	0.532000														48			16		0	0	0.004007	0	0
LGR5	8549	broad.mit.edu	37	12	71955582	71955582	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:71955582C>T	uc001swl.3	+	7	855	c.807C>T	c.(805-807)atC>atT	p.I269I	LGR5_uc001swm.3_Intron|LGR5_uc021rar.1_Silent_p.I197I|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	269						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCAACAATATCAGGTCGATAC	0.368000														309			65		0	0	0.003610	0	0
CTSS	1520	broad.mit.edu	37	1	150727493	150727493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:150727493G>A	uc001evn.3	-	3	644	c.383C>T	c.(382-384)aCt>aTt	p.T128I	CTSS_uc010pcj.2_Intron	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	128					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTTCACTTCAGTAACACACCC	0.423000														150			31		0	0	0.002096	0	0
CGNL1	84952	broad.mit.edu	37	15	57730313	57730313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:57730313C>T	uc010bfw.3	+	2	309	c.116C>T	c.(115-117)tCc>tTc	p.S39F	CGNL1_uc002aeg.3_Missense_Mutation_p.S39F	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	39	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAGGCAGGCTCCTACGGTGTC	0.478000														79			53		0	0	0.003610	0	0
ESPNP	284729	broad.mit.edu	37	1	17029462	17029462	+	Missense_Mutation	SNP	A	G	G	rs11260891	by1000genomes	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:17029462A>G	uc001azn.1	-	5	904	c.790T>C	c.(790-792)Tcc>Ccc	p.S264P						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CTAGTGCTGGAAAGCCCTGGG	0.577000														31			7		0	0	0.000673	0	0
CDHR3	222256	broad.mit.edu	37	7	105667134	105667134	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:105667134G>A	uc003vdl.4	+	15	2373	c.2265G>A	c.(2263-2265)aaG>aaA	p.K755K	CDHR3_uc003vdk.3_Missense_Mutation_p.E187K|CDHR3_uc003vdm.4_Silent_p.K742K|CDHR3_uc011klt.2_Silent_p.K667K|CDHR3_uc003vdn.3_Missense_Mutation_p.E256K	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	755					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ATAGGACAAAGAAAGGAGGTA	0.458000														64			8		0	0	0.004482	0	0
ACTL9	284382	broad.mit.edu	37	19	8807915	8807915	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:8807915G>A	uc002mkl.2	-	0	1258	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	379						cytoplasm|cytoskeleton		p.S379F(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGATCCATACGGAGAAATTCC	0.657000														25			13		0	0	0.002450	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673076	141673076	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:141673076C>T	uc003vwx.1	-	0	498	c.414G>A	c.(412-414)agG>agA	p.R138R		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	138					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GGGAGATCTTCCTGGAGACCC	0.517000														24			8		0	0	0.003080	0	0
C20orf26	26074	broad.mit.edu	37	20	20140015	20140015	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:20140015G>A	uc002wru.3	+	10	1066	c.952_splice	c.e10-1	p.G318_splice	C20orf26_uc010gcw.2_Splice_Site_p.G272_splice|C20orf26_uc010zse.2_Splice_Site_p.G318_splice|C20orf26_uc010zsf.1_Splice_Site_p.G318_splice	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	318										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CATTTCCAGGGAAATATTGCC	0.483000														62			15		0	0	0.004990	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958845	111958845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:111958845C>T	uc003dyu.3	-	11	1510	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.D382N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	430					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GATGTGGCATCACGAAGACCT	0.343000														35			5		0	0	0.000602	0	0
PDPR	55066	broad.mit.edu	37	16	70176284	70176285	+	Missense_Mutation	DNP	CC	TT	TT	rs143406287	by1000genomes	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:70176284_70176285CC>TT	uc002eyf.1	+	11	2420_2421	c.1463_1464CC>TT	c.(1462-1464)ccc>cTT	p.P488L	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.P388L|PDPR_uc002eyg.1_Missense_Mutation_p.P216L	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	488					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TTTGTTCCCCCCGACAAGGGTA	0.431000														70			5		0	0	0.004672	0	0
C9orf152	401546	broad.mit.edu	37	9	112969770	112969770	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:112969770G>A	uc011lwk.2	-	0	644	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	30										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CTTTCCCAGGGGCCTGAGTCC	0.642000														40			18		0	0	0.000958	0	0
PVRL1	5818	broad.mit.edu	37	11	119549388	119549388	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:119549388G>C	uc001pwv.3	-	1	339	c.167C>G	c.(166-168)cCg>cGg	p.P56R	PVRL1_uc001pwu.1_Missense_Mutation_p.P56R|PVRL1_uc001pww.3_Missense_Mutation_p.P56R	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	56	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCTGGGAAGCGGGTTGGCAAA	0.592000														21			3		0	0	0.004672	0	0
FAM82A1	151393	broad.mit.edu	37	2	38179116	38179116	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:38179116C>A	uc002rqn.2	+	1	884	c.758C>A	c.(757-759)cCt>cAt	p.P253H	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						CATCCTCGTCCTGAAAGTTAC	0.393000														48			13		5.50884e-06	1.1816e-05	0.001368	1	0
DRD5	1816	broad.mit.edu	37	4	9784482	9784482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:9784482G>A	uc003gmb.4	+	0	1225	c.829G>A	c.(829-831)Gcc>Acc	p.A277T		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	277					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GAGCAGCGCAGCCTGCGCGCC	0.642000														30			8		0	0	0.003080	0	0
GRIN3A	116443	broad.mit.edu	37	9	104385660	104385660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:104385660C>T	uc004bbp.2	-	4	3155	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E852K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	852					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATTGACACTTCATAATCCAGA	0.393000														69			18		0	0	0.001882	0	0
CRX	1406	broad.mit.edu	37	19	48342687	48342688	+	Missense_Mutation	DNP	GG	AC	AC	rs141888455		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:48342687_48342688GG>AC	uc002phq.4	+	3	567_568	c.363_364GG>AC	c.(361-366)gcgggc>gcACgc	p.G122R		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	122			G -> D (in RP).		organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		AGAGGAAGGCGGGCACGTCCCC	0.658000														46			14		0	0	0.004672	0	0
MIR1324	100302212	broad.mit.edu	37	3	75680001	75680001	+	RNA	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:75680001G>A	uc021xar.1	+	0		c.88G>A								Homo sapiens microRNA 1324 (MIR1324), microRNA.																		CACTTTCCTGGAGGCTCCATG	0.527000														91			8		0	0	0.000978	0	0
PGM2	55276	broad.mit.edu	37	4	37846085	37846085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:37846085C>T	uc011byb.1	+	6	893	c.820C>T	c.(820-822)Cct>Tct	p.P274S	PGM2_uc011bya.1_Missense_Mutation_p.P135S|PGM2_uc011byc.1_Missense_Mutation_p.P114S	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	274					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						TGACCTTGTTCCTCCTGAGGC	0.493000														115			17		0	0	0.001882	0	0
LYPLA2	11313	broad.mit.edu	37	1	24120985	24120985	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:24120985C>T	uc001bht.3	+	8	661	c.540C>T	c.(538-540)ccC>ccT	p.P180P		NM_007260	NP_009191	O95372	LYPA2_HUMAN	Homo sapiens lysophospholipase II (LYPLA2), mRNA.	180					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCATGGTGCCCGTACGGTTTG	0.617000														32			8		0	0	0.004482	0	0
HOXD8	3234	broad.mit.edu	37	2	176996323	176996323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:176996323G>A	uc002uko.3	+	1	1483	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Missense_Mutation_p.E102K|HOXD8_uc002ukp.3_Missense_Mutation_p.E285K	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	286					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AGACAGAGCCGAAGGCCTGAC	0.423000														25			8		0	0	0.003080	0	0
CXorf36	79742	broad.mit.edu	37	X	45011044	45011044	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:45011044G>A	uc004dgg.2	-	4	1230	c.1155C>T	c.(1153-1155)atC>atT	p.I385I		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	385						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						ACTGAACAAGGATGGAGTCTA	0.587000														21			11		0	0	0.000673	0	0
TMEM63B	55362	broad.mit.edu	37	6	44122487	44122487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:44122487C>T	uc003owr.3	+	23	2430	c.2366C>T	c.(2365-2367)cCt>cTt	p.P789L	TMEM63B_uc003ows.3_Missense_Mutation_p.P692L|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	789						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GATGGGGCTCCTGGGAGCTCA	0.602000														42			11		0	0	0.001855	0	0
CBLN4	140689	broad.mit.edu	37	20	54575901	54575901	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:54575901G>A	uc002xxa.3	-	1	1079	c.294C>T	c.(292-294)atC>atT	p.I98I		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	98	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CATTCACCAGGATCTACaaat	0.318000														36			9		0	0	0.000443	0	0
FAM81B	153643	broad.mit.edu	37	5	94772524	94772524	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:94772524G>A	uc003kla.1	+	6	853	c.807G>A	c.(805-807)aaG>aaA	p.K269K	FAM81B_uc010jbe.1_Silent_p.K65K	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	269										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TCTTAGGAAAGATAGAAACTG	0.398000														30			9		0	0	0.004482	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643849	121643849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:121643849C>T	uc003eep.2	+	12	1246	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	SLC15A2_uc011bjn.1_Missense_Mutation_p.R334C	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	365					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTCATTTATCGTCTGGTCTC	0.368000														159			28		0	0	0.001512	0	0
XIST	7503	broad.mit.edu	37	X	73066285	73066285	+	RNA	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:73066285A>G	uc004ebm.1	-	0		c.6304T>C								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GACGATTATAATCACACACAA	0.488000														23			20		0	0	0.001216	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016259	38016259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:38016259G>A	uc003gtb.3	+	2	905	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	TBC1D1_uc011byd.2_Missense_Mutation_p.V183M|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.V54M	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	183						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCGCGTGACGGTGGCGCACAA	0.667000														118			22		0	0	0.002299	0	0
OR4K1	79544	broad.mit.edu	37	14	20404268	20404268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:20404268C>T	uc001vwj.2	+	0	502	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	148					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)		GTGTCTATTTCCTGGGCGGTG	0.453000														75			12		0	0	0.000978	0	0
CRYBA1	1411	broad.mit.edu	37	17	27576199	27576199	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:27576199C>A	uc002hdw.3	+	1	78	c.71C>A	c.(70-72)aCg>aAg	p.T24K		NM_005208	NP_005199	P05813	CRBA1_HUMAN	Homo sapiens crystallin, beta A1 (CRYBA1), mRNA.	24	N-terminal arm.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ACCAACCCTACGCCGGGGTCC	0.612000														52			13		0.00316338	0.00672876	0.003163	1	0
KCNB1	3745	broad.mit.edu	37	20	47989668	47989668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:47989668C>T	uc002xur.1	-	1	2595	c.2429G>A	c.(2428-2430)aGg>aAg	p.R810K	KCNB1_uc002xus.1_Missense_Mutation_p.R810K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	810					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACAGTTCTGCCTTAAGAACTT	0.517000														143			37		0	0	0.005524	0	0
DIS3L2	129563	broad.mit.edu	37	2	233001424	233001424	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:233001424C>T	uc010fxz.3	+	7	1221	c.945C>T	c.(943-945)gcC>gcT	p.A315A	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	315							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GCAATTTTGCCCTGGGGTAGG	0.448000														74			21		0	0	0.002780	0	0
RNF216	54476	broad.mit.edu	37	7	5780684	5780684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:5780684C>T	uc003sox.2	-	3	1223	c.964G>A	c.(964-966)Gag>Aag	p.E322K	RNF216_uc010ksz.2_5'UTR|RNF216_uc010kta.2_Intron|RNF216_uc003soy.2_Missense_Mutation_p.E265K|RNF216_uc011jwj.2_Intron	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	265					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AAATTGGGCTCTTGAGATTCT	0.448000														73			25		0	0	0.003330	0	0
TNXB	7148	broad.mit.edu	37	6	32065631	32065631	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:32065631C>T	uc003nzl.2	-	1	547	c.345G>A	c.(343-345)aaG>aaA	p.K115K	TNXB_uc010jts.1_Silent_p.K114K|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	115					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTTGAGCCCCTTCACCAACT	0.627000														186			59		0	0	0.003610	0	0
GPR116	221395	broad.mit.edu	37	6	46851899	46851899	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:46851899G>A	uc003oyo.3	-	4	727	c.438C>T	c.(436-438)ctC>ctT	p.L146L	GPR116_uc003oyp.3_Silent_p.L146L|GPR116_uc003oyq.3_Silent_p.L146L|GPR116_uc003oyr.2_Silent_p.L146L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	146					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGTGCCCTGGGAGGAAGACGT	0.498000														97			25		0	0	0.003330	0	0
PRSS12	8492	broad.mit.edu	37	4	119203267	119203267	+	Missense_Mutation	SNP	C	G	G	rs113331980		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:119203267C>G	uc003ica.2	-	12	2499	c.2452G>C	c.(2452-2454)Gtg>Ctg	p.V818L		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	818	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGCTGTCCACGCGTTTGTGT	0.542000														43			13		0	0	0.001368	0	0
PSMD12	5718	broad.mit.edu	37	17	65341909	65341909	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:65341909A>G	uc002jfy.3	-	7	946	c.860T>C	c.(859-861)gTt>gCt	p.V287A	PSMD12_uc002jga.3_Missense_Mutation_p.V267A|PSMD12_uc002jfz.3_Missense_Mutation_p.V228A|PSMD12_uc010det.1_Missense_Mutation_p.V287A	NM_002816	NP_002807	O00232	PSD12_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 (PSMD12), transcript variant 1, mRNA.	287	PCI.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TATTCGGTGAACCAAATCTGA	0.358000														39			26		0	0	0.002445	0	0
TM9SF1	10548	broad.mit.edu	37	14	24662319	24662319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:24662319C>T	uc010tob.1	-	6	1841	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	IPO4_uc001wmz.2_5'Flank|TM9SF1_uc001wnb.1_Missense_Mutation_p.E168K|TM9SF1_uc010toa.1_Missense_Mutation_p.E81K|TM9SF1_uc001wnc.3_Missense_Mutation_p.E168K	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	168					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CCATGGAATTCTAGGTGGAAG	0.522000														58			19		0	0	0.002299	0	0
C1orf227	149643	broad.mit.edu	37	1	213009267	213009267	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:213009267C>T	uc001hjq.3	-	1	333	c.225G>A	c.(223-225)tgG>tgA	p.W75*		NM_001024601	NP_001019772	Q537H7	CA227_HUMAN	Homo sapiens chromosome 1 open reading frame 227 (C1orf227), mRNA.	75										kidney(1)|large_intestine(1)|lung(1)	3						TCAGCTTGATCCAGGAGCTCC	0.428000														113			17		0	0	0.000958	0	0
INTS3	65123	broad.mit.edu	37	1	153732018	153732018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:153732018C>T	uc009wom.3	+	11	1387	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	INTS3_uc001fct.3_Missense_Mutation_p.S389F|INTS3_uc001fcu.3_Missense_Mutation_p.S81F|INTS3_uc001fcv.3_Missense_Mutation_p.S183F|INTS3_uc010peb.2_Missense_Mutation_p.S183F|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_Intron	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	390					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCGCTGCCTCCAATGCCAAG	0.493000														134			23		0	0	0.002299	0	0
NNMT	4837	broad.mit.edu	37	11	114168875	114168875	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:114168875G>A	uc001por.1	+	3	621	c.357G>A	c.(355-357)ggG>ggA	p.G119G	NNMT_uc001pos.1_Silent_p.G119G	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	119					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	ATCTTGAAGGGAACAGGTAGA	0.488000														54			10		0	0	0.000673	0	0
OR52E4	390081	broad.mit.edu	37	11	5905803	5905803	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:5905803T>G	uc010qzs.2	+	0	281	c.281T>G	c.(280-282)aTc>aGc	p.I94S	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCAAGAGATCAGCTTTGGG	0.458000														90			20		0	0	0.000958	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080826	148080826	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:148080826C>T	uc003weu.2	+	21	4077	c.3561C>T	c.(3559-3561)atC>atT	p.I1187I	CNTNAP2_uc003wev.2_5'UTR	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1187	Laminin G-like 4.				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	p.I1187I(2)		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)			TCAACCAGATCGCCCCTCTCA	0.552000										HNSCC(39;0.1)				54			10		0	0	0.001368	0	0
VWCE	220001	broad.mit.edu	37	11	61048165	61048165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:61048165C>T	uc001nra.3	-	8	1534	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	419	VWFC 1.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCACACCTCACCTTTTCACAG	0.587000														38			5		0	0	0.000602	0	0
TSSK6	83983	broad.mit.edu	37	19	19625778	19625778	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:19625778G>A	uc002nmr.3	-	0	692	c.459C>T	c.(457-459)acC>acT	p.T153T	TSSK6_uc002nmq.3_Non-coding_Transcript|YJEFN3_uc021uqu.1_5'Flank|YJEFN3_uc021uqv.1_5'Flank|YJEFN3_uc021uqw.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	Homo sapiens testis-specific serine kinase 6 (TSSK6), mRNA.	153	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AGCCGAAGTCGGTGAGCTTGA	0.682000														33			12		0	0	0.001368	0	0
BPTF	2186	broad.mit.edu	37	17	65889738	65889738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:65889738C>T	uc002jgf.3	+	5	2369	c.2308C>T	c.(2308-2310)Cat>Tat	p.H770Y	BPTF_uc002jge.3_Missense_Mutation_p.H896Y|BPTF_uc010wqm.1_Missense_Mutation_p.H833Y	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	896					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGGTTCTGTCCATGGGTCCAA	0.443000														64			35		0	0	0.003214	0	0
PTPRD	5789	broad.mit.edu	37	9	8518175	8518175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:8518175C>T	uc003zkk.3	-	20	1959	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	PTPRD_uc003zkp.3_Missense_Mutation_p.E406K|PTPRD_uc003zkq.3_Missense_Mutation_p.E406K|PTPRD_uc003zkr.3_Missense_Mutation_p.E400K|PTPRD_uc003zks.3_Missense_Mutation_p.E396K|PTPRD_uc022bdj.1_Missense_Mutation_p.E403K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	406	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCACAGGTTCGCTGGGAGGC	0.542000										TSP Lung(15;0.13)				78			31		0	0	0.001786	0	0
KIAA0319	9856	broad.mit.edu	37	6	24563603	24563603	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:24563603C>A	uc011djo.2	-	15	3075	c.2575G>T	c.(2575-2577)Gcc>Tcc	p.A859S	KIAA0319_uc011djp.2_Missense_Mutation_p.A814S|KIAA0319_uc003neh.1_Missense_Mutation_p.A859S|KIAA0319_uc011djq.1_Missense_Mutation_p.A850S|KIAA0319_uc011djr.1_Missense_Mutation_p.A859S|KIAA0319_uc010jpt.1_Missense_Mutation_p.A270S	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	859					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCCGAGTGGGCCCGAATCTTC	0.562000														37			5		5.9392e-07	1.27543e-06	0.001168	1	0
GEMIN5	25929	broad.mit.edu	37	5	154272026	154272026	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:154272026G>A	uc003lvx.3	-	24	3764	c.3681C>T	c.(3679-3681)ctC>ctT	p.L1227L	GEMIN5_uc011ddk.1_Silent_p.L1226L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1227					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCGCCCGAAGGAGCGCCTGCA	0.587000														40			9		0	0	0.004482	0	0
DDX24	57062	broad.mit.edu	37	14	94526857	94526857	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:94526857C>G	uc001ycj.3	-	4	1599	c.1500G>C	c.(1498-1500)aaG>aaC	p.K500N	DDX24_uc010twq.2_Missense_Mutation_p.K457N|DDX24_uc010twr.2_Missense_Mutation_p.K250N	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	500	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCGTTTGTCTCTTTGGGTTGT	0.488000														151			35		0	0	0.003755	0	0
NBPF14	25832	broad.mit.edu	37	1	148017573	148017573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:148017573G>A	uc001eqq.3	-	5	742	c.710C>T	c.(709-711)tCg>tTg	p.S237L	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Missense_Mutation_p.S577L|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Missense_Mutation_p.S116L|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc021owd.1_Missense_Mutation_p.S116L	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	237	NBPF 2.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGACTTGTACGAGGCCAACAT	0.478000														338			16		0	0	0.003610	0	0
NEB	4703	broad.mit.edu	37	2	152544142	152544142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:152544142C>T	uc021vrb.1	-	23	2550	c.2521G>A	c.(2521-2523)Gat>Aat	p.D841N	NEB_uc002txu.3_Missense_Mutation_p.D841N|NEB_uc021vrc.1_Missense_Mutation_p.D841N|NEB_uc010fnx.3_Missense_Mutation_p.D841N|NEB_uc021vrd.1_Missense_Mutation_p.D841N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	841					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.S840S(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACACTCACATCGCTGGTGTTC	0.532000														18			9		0	0	0.004482	0	0
LDLR	3949	broad.mit.edu	37	19	11216163	11216163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:11216163G>A	uc002mqk.4	+	3	768	c.581G>A	c.(580-582)aGt>aAt	p.S194N	LDLR_uc010xlk.2_Missense_Mutation_p.S194N|LDLR_uc010xll.2_Missense_Mutation_p.S153N|LDLR_uc021upc.1_Missense_Mutation_p.S73N|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Missense_Mutation_p.S47N|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	194					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CAAGGGGACAGTAGCCCCTGC	0.622000														169			46		0	0	0.003214	0	0
TFCP2	7024	broad.mit.edu	37	12	51512481	51512481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:51512481G>A	uc001rxw.3	-	1	918	c.197C>T	c.(196-198)cCt>cTt	p.P66L	TFCP2_uc001rxv.2_Missense_Mutation_p.P66L|TFCP2_uc009zlx.2_Missense_Mutation_p.P66L|TFCP2_uc009zly.1_5'UTR	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	66					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ATATTGAAAAGGCAGGATTTT	0.383000														72			21		0	0	0.001523	0	0
ARID2	196528	broad.mit.edu	37	12	46244297	46244298	+	Nonsense_Mutation	DNP	AC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:46244297_46244298AC>TT	uc001ros.1	+	14	2391_2392	c.2391_2392AC>TT	c.(2389-2394)ccacag>ccTTag	p.Q798*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q798*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q254*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q425*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q132*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	798	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAGCTGTCCCACAGAGTCATAT	0.460000			"""N, S, F"""		hepatocellular carcinoma									36			8		0	0	0.004672	0	0
ABCE1	6059	broad.mit.edu	37	4	146025597	146025597	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:146025597C>T	uc003ijx.3	+	1	473	c.33C>T	c.(31-33)gtC>gtT	p.V11V	ABCE1_uc003ijy.3_Silent_p.V11V|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	11	4Fe-4S ferredoxin-type 1.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TTGCTATTGTCAACCATGACA	0.358000														37			6		0	0	0.001984	0	0
POTEH	23784	broad.mit.edu	37	22	16267002	16267002	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:16267002A>T	uc010gqp.2	-	8	1499	c.1447T>A	c.(1447-1449)Tta>Ata	p.L483I	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.L202I|POTEH_uc002zlj.1_Missense_Mutation_p.L318I	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	483										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GGTGGAATTAATCCATCATCA	0.433000														354			19		0	0	0.002780	0	0
CYP4F11	57834	broad.mit.edu	37	19	16045035	16045035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:16045035C>T	uc002nbu.2	-	1	220	c.184G>A	c.(184-186)Gga>Aga	p.G62R	CYP4F11_uc010eab.1_Missense_Mutation_p.G62R|CYP4F11_uc002nbt.2_Missense_Mutation_p.G62R	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	62					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CCCTGGTGTCCCCAAAACCAG	0.607000														34			7		0	0	0.003080	0	0
PIWIL3	440822	broad.mit.edu	37	22	25115717	25115717	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:25115717G>C	uc003abd.1	-	19	2947	c.2530C>G	c.(2530-2532)Cca>Gca	p.P844A	PIWIL3_uc011ajx.1_Missense_Mutation_p.P726A|PIWIL3_uc010gut.1_Missense_Mutation_p.P835A|PIWIL3_uc011ajy.1_Missense_Mutation_p.P726A	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	844	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTACTTACTGGCAAATTATAA	0.338000														49			18		0	0	0.000958	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857522	9857522	+	Silent	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:9857522A>G	uc010uym.2	-	13	4189	c.3879T>C	c.(3877-3879)gaT>gaC	p.D1293D	GRIN2A_uc002czo.4_Silent_p.D1293D|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1293					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Y1292Y(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGACAATGTTATCGTAGGAAT	0.522000														86			16		0	0	0.004990	0	0
LOC341056	341056	broad.mit.edu	37	11	122889164	122889164	+	RNA	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:122889164G>A	uc010rzt.2	+	0		c.891G>A								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		CTCCAGATACGAAACGATGTG	0.493000														28			6		0	0	0.001984	0	0
FSIP2	401024	broad.mit.edu	37	2	186673305	186673305	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:186673305C>T	uc002upl.3	+	16	19539	c.19539C>T	c.(19537-19539)tcC>tcT	p.S6513S	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTGTCGATTCCGTTTATAGTA	0.323000														31			11		0	0	0.000978	0	0
DCST2	127579	broad.mit.edu	37	1	155005658	155005658	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:155005658G>A	uc001fgm.3	-	1	431	c.351C>T	c.(349-351)acC>acT	p.T117T	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	117						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGCTGGCCCGGGTGAAGTTGC	0.617000														20			6		0	0	0.001168	0	0
ANLN	54443	broad.mit.edu	37	7	36466575	36466575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:36466575C>T	uc003tff.3	+	19	3025	c.2821C>T	c.(2821-2823)Ctt>Ttt	p.L941F	ANLN_uc011kaz.2_Missense_Mutation_p.L853F|ANLN_uc003tfg.3_Missense_Mutation_p.L904F|ANLN_uc010kxe.3_Missense_Mutation_p.L903F	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	941	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAACTTCGCCCTTGTTGGATC	0.393000														63			27		0	0	0.001061	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447491	24447491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:24447491G>A	uc001biq.2	-	6	1732	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F	IL22RA1_uc010oeg.1_Missense_Mutation_p.S442F|IL22RA1_uc009vrb.2_Missense_Mutation_p.S374F|IL22RA1_uc010oeh.2_3'UTR	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	510						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CAAAGGGAGGGACATGGGGTG	0.612000														65			10		0	0	0.000673	0	0
CPNE6	9362	broad.mit.edu	37	14	24545597	24545597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:24545597G>A	uc010tnv.2	+	12	1398	c.1252G>A	c.(1252-1254)Ggg>Agg	p.G418R	CPNE6_uc001wlm.3_Missense_Mutation_p.G188R|CPNE6_uc001wll.3_Missense_Mutation_p.G363R|CPNE6_uc001wln.3_5'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	363	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TTTTGGCTTTGGGGCTCGAAT	0.592000														101			26		0	0	0.001061	0	0
ANK1	286	broad.mit.edu	37	8	41552702	41552702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:41552702C>T	uc003xok.3	-	26	3192	c.3108G>A	c.(3106-3108)atG>atA	p.M1036I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.M352I|ANK1_uc003xoi.3_Missense_Mutation_p.M1036I|ANK1_uc003xoj.3_Missense_Mutation_p.M1036I|ANK1_uc003xol.3_Missense_Mutation_p.M1036I|ANK1_uc003xom.3_Missense_Mutation_p.M1077I	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1036					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.G1035W(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)			TACCTTCGTCCATCCCGTTGA	0.602000														159			39		0	0	0.002222	0	0
CNGA1	1259	broad.mit.edu	37	4	47939783	47939783	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:47939783T>C	uc003gxu.3	-	9	1076	c.935A>G	c.(934-936)aAc>aGc	p.N312S	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.N243S	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	243					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AAATTGCAAGTTGGATTTATA	0.308000														112			18		0	0	0.001882	0	0
ANKRD29	147463	broad.mit.edu	37	18	21197718	21197718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:21197718G>A	uc002kun.3	-	7	856	c.701C>T	c.(700-702)tCa>tTa	p.S234L	ANKRD29_uc002kuo.3_Missense_Mutation_p.S234L	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA.	234										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGAGTGGGTGAGAATTTAAG	0.358000														39			9		0	0	0.000673	0	0
TULP4	56995	broad.mit.edu	37	6	158923850	158923850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:158923850C>T	uc003qrf.3	+	12	4512	c.3155C>T	c.(3154-3156)tCc>tTc	p.S1052F	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	1052					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCGGAGCCTCCCTGGCCCAT	0.716000														20			13		0	0	0.002450	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735399	140735399	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140735399T>C	uc003ljq.2	+	0	632	c.632T>C	c.(631-633)gTt>gCt	p.V211A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.V211A	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	211	Cadherin 2.				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)			CACCACCTCGTTCTCACGGCC	0.557000														10			3		0	0	0.004672	0	0
CHIA	27159	broad.mit.edu	37	1	111860660	111860660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:111860660G>A	uc001eas.3	+	7	815	c.658G>A	c.(658-660)Ggc>Agc	p.G220S	CHIA_uc001ear.3_Missense_Mutation_p.G112S|CHIA_uc001eaq.3_Missense_Mutation_p.G112S|CHIA_uc009wgc.3_Missense_Mutation_p.G112S|CHIA_uc001eat.3_Missense_Mutation_p.G59S|CHIA_uc001eav.3_Missense_Mutation_p.G59S|CHIA_uc001eau.3_Missense_Mutation_p.G59S|CHIA_uc009wgd.3_Missense_Mutation_p.G59S	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	220					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTCCTGGGAGGGCTACACTGG	0.532000														37			9		0	0	0.001368	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547761	9547761	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:9547761A>T	uc003bry.3	-	2	819	c.533T>A	c.(532-534)aTc>aAc	p.I178N		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	178						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GATGGCCAGGATGTATGCCCA	0.612000														58			9		0	0	0.000673	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26094577	26094577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:26094577C>T	uc002wvj.4	-	0	101	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.																		TGACTTTGTTCTGTGCTGAAT	0.418000														14			5		0	0	0.001984	0	0
ECD	11319	broad.mit.edu	37	10	74899442	74899442	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:74899442G>C	uc009xqx.3	-	10	1523	c.1280C>G	c.(1279-1281)cCa>cGa	p.P427R	ECD_uc001jtn.3_Missense_Mutation_p.P394R|ECD_uc009xqy.3_Missense_Mutation_p.P351R|ECD_uc001jto.3_Missense_Mutation_p.P93R	NM_001135752	NP_001129224	O95905	SGT1_HUMAN	Homo sapiens ecdysoneless homolog (Drosophila) (ECD), transcript variant 2, mRNA.	394					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TATATCAAATGGTATTGTCTG	0.343000														228			46		0	0	0.003214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870982	140870982	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140870982G>A	uc003lla.2	+	0	2175	c.2175G>A	c.(2173-2175)ggG>ggA	p.G725G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Silent_p.G725G	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	725					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)			ACGGGGACGGGGGTGGAGGGC	0.597000														81			22		0	0	0.001882	0	0
USH2A	7399	broad.mit.edu	37	1	216073545	216073545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:216073545G>A	uc001hku.1	-	39	7853	c.7466C>T	c.(7465-7467)cCt>cTt	p.P2489L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2489	Fibronectin type-III 11.				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)		CGATGCAGAAGGATTGGAAAA	0.348000										HNSCC(13;0.011)				43			9		0	0	0.004482	0	0
PHF17	79960	broad.mit.edu	37	4	129783053	129783053	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:129783053C>T	uc011cgy.2	+	8	1490	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	PHF17_uc003igj.3_Silent_p.S392S|PHF17_uc003igk.3_Silent_p.S392S|PHF17_uc003igl.3_Silent_p.S380S|PHF17_uc003igm.3_Silent_p.S392S	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	392					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGAGTGTTCCCCCCGGAATC	0.597000														98			20		0	0	0.001523	0	0
MAST4	375449	broad.mit.edu	37	5	66459221	66459221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:66459221G>A	uc021xzk.1	+	28	4522	c.4214G>A	c.(4213-4215)gGc>gAc	p.G1405D	MAST4_uc003jut.2_Missense_Mutation_p.G1216D|MAST4_uc003juw.3_Missense_Mutation_p.G1144D|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1408						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CACTCACTGGGCAATTCCAAG	0.657000														26			11		0	0	0.001368	0	0
VDAC1	7416	broad.mit.edu	37	5	133316436	133316436	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:133316436G>A	uc003kyp.2	-	5	858	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	VDAC1_uc003kyq.2_Nonsense_Mutation_p.Q179*|VDAC1_uc003kyr.2_Nonsense_Mutation_p.Q179*	NM_003374	NP_003365	P21796	VDAC1_HUMAN	Homo sapiens voltage-dependent anion channel 1 (VDAC1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	179					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GTGTGAAGCTGGAATTCATCA	0.498000														21			8		0	0	0.003080	0	0
SLC35B4	84912	broad.mit.edu	37	7	133979702	133979702	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:133979702G>A	uc003vrn.3	-	9	1203	c.879C>T	c.(877-879)acC>acT	p.T293T	SLC35B4_uc010lmk.3_Silent_p.T157T	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	Homo sapiens solute carrier family 35, member B4 (SLC35B4), mRNA.	293						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						AGTGCCACAGGGTGAAGGGGT	0.522000														118			40		0	0	0.001706	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163612	161163612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:161163612G>A	uc001fyt.4	-	5	1981	c.1553C>T	c.(1552-1554)cCa>cTa	p.P518L		NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	518	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACCAGCCTGTGGAATCTGCAA	0.637000														31			9		0	0	0.000673	0	0
MNDA	4332	broad.mit.edu	37	1	158811970	158811970	+	Silent	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:158811970T>A	uc001fsz.1	+	1	227	c.27T>A	c.(25-27)ctT>ctA	p.L9L		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	9	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.L9I(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGAAAATTCTTTTGCTGAAAG	0.308000														48			10		0	0	0.001855	0	0
NWD1	284434	broad.mit.edu	37	19	16860484	16860484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:16860484G>A	uc002neu.4	+	5	1453	c.1031G>A	c.(1030-1032)gGc>gAc	p.G344D	NWD1_uc002net.4_Missense_Mutation_p.G209D|NWD1_uc002nev.4_Missense_Mutation_p.G138D|NWD1_uc021uqg.1_Missense_Mutation_p.G209D	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	344	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGCCCCCAGGCATTGGAAAG	0.632000														35			11		0	0	0.000673	0	0
MIR520F	574464	broad.mit.edu	37	19	54185498	54185498	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:54185498G>A	uc021uzp.1	+	1		c.87_splice	c.e1+1		MIR515-1_uc010yea.2_5'Flank					Homo sapiens microRNA 520f (MIR520F), microRNA.																		TACCGTTTGGGAAAAGCAATG	0.443000														29			6		0	0	0.001168	0	0
UNC13A	23025	broad.mit.edu	37	19	17756850	17756850	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:17756850G>A	uc021uqk.1	-	17	2154	c.2112C>T	c.(2110-2112)gtC>gtT	p.V704V		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	705	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.A704V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGTCTTCCCGACCTGGACGG	0.567000														25			10		0	0	0.000443	0	0
XPO6	23214	broad.mit.edu	37	16	28117523	28117523	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:28117523G>A	uc002dpa.1	-	19	3126	c.2625C>T	c.(2623-2625)gcC>gcT	p.A875A	XPO6_uc002dpb.1_Silent_p.A861A|XPO6_uc010vcp.1_Silent_p.A875A	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	875					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GGATGCTCTCGGCTAACTGCT	0.577000														28			6		0	0	0.003080	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626478	1626478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:1626478G>A	uc003wpl.3	+	8	2244	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D	DLGAP2_uc003wpm.3_Missense_Mutation_p.G702D	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	795					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.G724V(1)|p.G760V(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAGGACAAAGGCCTTCAGTTC	0.612000														38			13		0	0	0.001855	0	0
GSS	2937	broad.mit.edu	37	20	33533886	33533886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:33533886G>A	uc002xbg.3	-	2	225	c.145C>T	c.(145-147)Cca>Tca	p.P49S	GSS_uc010zun.2_5'UTR|GSS_uc010zuo.2_Missense_Mutation_p.P49S|GSS_uc010zup.2_Intron|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	49					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	AGCGTGAATGGGGCATAGCTC	0.547000														141			10		0	0	0.002450	0	0
EPHA8	2046	broad.mit.edu	37	1	22915620	22915620	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:22915620C>T	uc001bfx.1	+	4	1361	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	EPHA8_uc001bfw.3_Silent_p.I412I	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	412	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTTCTGGATCGAGGCCGTCA	0.662000														24			7		0	0	0.001984	0	0
MCC	4163	broad.mit.edu	37	5	112720776	112720776	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:112720776G>A	uc003kql.4	-	1	720	c.304C>T	c.(304-306)Cga>Tga	p.R102*	MCC_uc003kqk.4_Non-coding_Transcript	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	0					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTAATTTCTCGAACAAGCTGC	0.458000														104			17		0	0	0.000958	0	0
FOXRED1	55572	broad.mit.edu	37	11	126141523	126141523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:126141523C>T	uc001qdi.3	+	1	444	c.277C>T	c.(277-279)Cga>Tga	p.R93*	SRPR_uc001qdh.3_5'Flank|SRPR_uc010sbm.2_5'Flank|FOXRED1_uc010sbn.2_Intron|FOXRED1_uc010sbq.2_5'UTR|FOXRED1_uc010sbo.2_Intron|FOXRED1_uc010sbp.2_Intron|FOXRED1_uc010sbr.2_Nonsense_Mutation_p.R79*|FOXRED1_uc001qdk.3_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	93						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGGTGCTATTCGAGTGCTAGT	0.562000														63			12		0	0	0.001368	0	0
KIAA1468	57614	broad.mit.edu	37	18	59936121	59936121	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:59936121G>A	uc002lil.3	+	19	2915	c.2700G>A	c.(2698-2700)ggG>ggA	p.G900G	KIAA1468_uc002lik.1_Silent_p.G896G|KIAA1468_uc010xel.2_Silent_p.G900G|KIAA1468_uc002lim.3_Silent_p.G544G	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	900							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CAGGAAATGGGGTCCTCACTA	0.299000														21			11		0	0	0.001368	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703027	27703027	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:27703027C>T	uc001itu.2	-	0	271	c.153G>A	c.(151-153)ccG>ccA	p.P51P		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	51					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGGGGGATTTCGGGGGTGCCA	0.682000														88			22		0	0	0.002780	0	0
PRDM4	11108	broad.mit.edu	37	12	108128154	108128154	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:108128154G>T	uc001tmp.3	-	11	2676	c.2239C>A	c.(2239-2241)Cgc>Agc	p.R747S	PRDM4_uc001tmq.3_Non-coding_Transcript	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	Homo sapiens PR domain containing 4 (PRDM4), mRNA.	747					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTCAGGTGGCGGGTGAGATGG	0.453000														130			6		0.00116845	0.00249426	0.001168	1	0
CER1	9350	broad.mit.edu	37	9	14722376	14722376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:14722376C>T	uc003zlj.3	-	0	340	c.295G>A	c.(295-297)Gac>Aac	p.D99N		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	99					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CTATCTGAGTCCCTGGATGGA	0.537000														37			18		0	0	0.000958	0	0
PHF1	5252	broad.mit.edu	37	6	33380097	33380097	+	Silent	SNP	T	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:33380097T>G	uc003oeh.3	+	1	293	c.57T>G	c.(55-57)gcT>gcG	p.A19A	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.A19A|PHF1_uc010jux.3_5'UTR	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	19					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GGGACCCAGCTTCTCCTGCTC	0.612000														51			12		0	0	0.001855	0	0
PKD1	5310	broad.mit.edu	37	16	2159956	2159956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:2159956G>A	uc002cos.1	-	14	5421	c.5212C>T	c.(5212-5214)Ctc>Ttc	p.L1738F	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.L1738F	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1738	PKD 13.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCGGCACTGAGGGTGACGCTT	0.637000														17			4		0	0	0.000248	0	0
PDZD3	79849	broad.mit.edu	37	11	119058144	119058144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:119058144G>A	uc001pwb.3	+	2	1218	c.694G>A	c.(694-696)Ggt>Agt	p.G232S	PDZD3_uc001pvz.3_Missense_Mutation_p.G166S|PDZD3_uc010rzd.2_Missense_Mutation_p.G153S|PDZD3_uc001pvy.3_Missense_Mutation_p.G166S|PDZD3_uc001pwa.3_5'UTR			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	232	PDZ 2.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		AGATGAGGGTGGTTTTGGCTT	0.632000														22			9		0	0	0.000978	0	0
GABRB3	2562	broad.mit.edu	37	15	26825552	26825552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:26825552G>A	uc001zbb.3	-	6	867	c.764C>T	c.(763-765)gCt>gTt	p.A255V	GABRB3_uc021sgg.1_Missense_Mutation_p.A128V|GABRB3_uc021sgh.1_Missense_Mutation_p.A114V|GABRB3_uc001zaz.3_Missense_Mutation_p.A199V|GABRB3_uc001zba.3_Missense_Mutation_p.A199V	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	199					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.I255V(1)|p.S254S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCGGTAACAGCCTTGTCCCC	0.532000														49			35		0	0	0.003755	0	0
IL15RA	3601	broad.mit.edu	37	10	6002399	6002399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:6002399G>A	uc021pmo.1	-	4	786	c.772C>T	c.(772-774)Cac>Tac	p.H258Y	IL15RA_uc010qau.2_Missense_Mutation_p.H139Y|IL15RA_uc021pmp.1_Missense_Mutation_p.H109Y|IL15RA_uc001iiv.3_Missense_Mutation_p.H172Y|IL15RA_uc001iiw.3_Missense_Mutation_p.H136Y|IL15RA_uc001iiy.3_Missense_Mutation_p.H20Y	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	172					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GGGGTGCCGTGGGAGGACTCA	0.587000														94			19		0	0	0.001523	0	0
AKAP13	11214	broad.mit.edu	37	15	86198668	86198668	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:86198668C>T	uc002blv.1	+	10	4565	c.4395C>T	c.(4393-4395)gcC>gcT	p.A1465A	AKAP13_uc002blt.1_Silent_p.A1465A|AKAP13_uc002blu.1_Silent_p.A1465A|AKAP13_uc010bnf.1_Silent_p.A105A|AKAP13_uc002blw.1_5'UTR|AKAP13_uc010bne.1_Silent_p.A118A	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1465					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|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCATTTGGCCTGTGATATCA	0.483000														20			19		0	0	0.001216	0	0
PREX2	80243	broad.mit.edu	37	8	69050737	69050737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:69050737G>A	uc003xxv.1	+	32	4099	c.4072G>A	c.(4072-4074)Gaa>Aaa	p.E1358K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1358					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATCAGAAGAGGAACCTCTGGT	0.289000														70			12		0	0	0.001855	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247300	55247300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:55247300G>A	uc002qgu.1	+	6	1086	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	KIR2DL1_uc002qgx.3_5'Flank|KIR2DL1_uc010erw.1_5'Flank	NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	356						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTGTTGTAATGGACCAAGAGC	0.522000														89			14		0	0	0.001882	0	0
PRLR	5618	broad.mit.edu	37	5	35065841	35065841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:35065841G>A	uc003jjm.3	-	9	1778	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.H306Y|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	407					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCACCAGCATGAAAATAGGGG	0.493000														157			33		0	0	0.004878	0	0
GPR112	139378	broad.mit.edu	37	X	135428106	135428106	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:135428106C>T	uc004ezu.1	+	5	2532	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	GPR112_uc010nsb.1_Silent_p.S542S|GPR112_uc010nsc.1_Silent_p.S514S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	747					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)					GAACCACATCCATAACCAATA	0.383000														27			13		0	0	0.001855	0	0
ITGAX	3687	broad.mit.edu	37	16	31374614	31374614	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:31374614C>T	uc002ebt.3	+	13	1696	c.1629C>T	c.(1627-1629)gcC>gcT	p.A543A	ITGAX_uc002ebu.1_Silent_p.A543A|ITGAX_uc010vfk.1_Silent_p.A193A	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	543					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.A543A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCATCGGGGCCCCAGGAGAGG	0.642000														131			46		0	0	0.003610	0	0
CCDC54	84692	broad.mit.edu	37	3	107096900	107096900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:107096900G>A	uc003dwi.1	+	0	713	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	156										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ACATTGTCTAGAGATTCTGGA	0.408000														44			11		0	0	0.001368	0	0
KCNK2	3776	broad.mit.edu	37	1	215298065	215298065	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:215298065C>T	uc001hkq.3	+	2	616	c.447C>T	c.(445-447)ttC>ttT	p.F149F	KCNK2_uc001hko.3_Silent_p.F145F|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Intron|KCNK2_uc010pua.1_Intron|KCNK2_uc001hkr.4_Silent_p.F134F	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	149							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GTTCCTTCTTCTTTGCTGGCA	0.363000														144			22		0	0	0.003330	0	0
OSBP2	23762	broad.mit.edu	37	22	31286814	31286814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:31286814G>A	uc003aiy.1	+	7	1827	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	OSBP2_uc011ala.1_Missense_Mutation_p.E409K|OSBP2_uc010gwc.1_Missense_Mutation_p.E402K|OSBP2_uc011alb.1_Missense_Mutation_p.E526K|OSBP2_uc003aiz.1_Missense_Mutation_p.E574K|OSBP2_uc003aja.1_Missense_Mutation_p.E208K|OSBP2_uc011alc.2_Missense_Mutation_p.E317K|OSBP2_uc011ald.1_Missense_Mutation_p.E119K|OSBP2_uc010gwd.1_Missense_Mutation_p.E120K	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	575					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CAGCTCAGTGGAGCAGATGTG	0.612000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			16		0	0	0.006122	0	0
ABCA13	154664	broad.mit.edu	37	7	48431685	48431685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:48431685C>T	uc003toq.2	+	37	11846	c.11822C>T	c.(11821-11823)tCc>tTc	p.S3941F	ABCA13_uc010kys.1_Missense_Mutation_p.S1015F|ABCA13_uc003tos.1_Missense_Mutation_p.S767F|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.	3941	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						CTCTTTGCTTCCATAAAGGCG	0.527000														68			24		0	0	0.004656	0	0
LIG1	3978	broad.mit.edu	37	19	48639036	48639036	+	Splice_Site	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:48639036T>A	uc002pia.1	-	16	1544	c.1424_splice	c.e16-1	p.E475_splice	LIG1_uc010xze.1_Splice_Site_p.E168_splice|LIG1_uc002phz.1_Splice_Site|LIG1_uc002pib.1_Splice_Site|LIG1_uc010xzf.1_Splice_Site_p.E407_splice|LIG1_uc010xzg.1_Splice_Site_p.E444_splice	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	475					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGGTGGGAATTCTAAGAAAAG	0.562000								Nucleotide excision repair (NER)						80			21		0	0	0.002299	0	0
MYO1D	4642	broad.mit.edu	37	17	31107694	31107694	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:31107694G>A	uc002hho.1	-	1	216	c.204C>T	c.(202-204)ggC>ggT	p.G68G	MYO1D_uc002hhp.1_Silent_p.G68G|MYO1D_uc010wcb.2_Silent_p.G68G	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	68	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)			ACAGCTCACGGCCTTTATACT	0.443000														53			11		0	0	0.000673	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655216	138655216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:138655216G>A	uc003qhu.3	+	32	5404	c.5233G>A	c.(5233-5235)Gaa>Aaa	p.E1745K		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1745					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCCTGGAGAGGAAAAGACGAT	0.478000														38			7		0	0	0.003080	0	0
AZU1	566	broad.mit.edu	37	19	831868	831868	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:831868G>A	uc002lpz.1	+	4	763	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	249					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGACCGGGGCCAGCCTAGG	0.716000														41			14		0	0	0.004007	0	0
OR52A1	23538	broad.mit.edu	37	11	5173354	5173354	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:5173354C>T	uc010qyy.2	-	0	246	c.246G>A	c.(244-246)aaG>aaA	p.K82K		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	82					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCAAGCATCTTTGGCATAA	0.438000														38			5		0	0	0.000602	0	0
CARM1	10498	broad.mit.edu	37	19	11031388	11031388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:11031388C>T	uc002mpz.3	+	11	1514	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_Missense_Mutation_p.S246F	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	463					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GGCTCCAAGTCCAGTAACCTC	0.642000														71			13		0	0	0.003163	0	0
TECPR2	9895	broad.mit.edu	37	14	102900623	102900623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:102900623C>T	uc001ylw.2	+	8	1695	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	TECPR2_uc010awl.3_Missense_Mutation_p.S490F|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	490							protein binding	p.C489S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACACCCTGCTCCGAATTTCCT	0.488000														54			9		0	0	0.000443	0	0
ANO4	121601	broad.mit.edu	37	12	101510530	101510530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:101510530G>A	uc010svm.1	+	24	3096	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	ANO4_uc001thw.2_Missense_Mutation_p.E807K|ANO4_uc001thx.2_Missense_Mutation_p.E842K|ANO4_uc001thy.2_Missense_Mutation_p.E362K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	842						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						ATCTGAGCCTGAATCTGATGG	0.527000										HNSCC(74;0.22)				83			19		0	0	0.001216	0	0
HNRNPR	10236	broad.mit.edu	37	1	23648120	23648120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:23648120C>T	uc001bgr.4	-	6	871	c.712G>A	c.(712-714)Gga>Aga	p.G238R	HNRNPR_uc010odw.2_Missense_Mutation_p.G200R|HNRNPR_uc009vql.3_Missense_Mutation_p.G99R|HNRNPR_uc001bgp.4_Missense_Mutation_p.G238R|HNRNPR_uc001bgs.4_Missense_Mutation_p.G137R|HNRNPR_uc009vqk.3_Missense_Mutation_p.G137R|HNRNPR_uc010odx.2_Missense_Mutation_p.G78R	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	238	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ATGCACACTCCAAGGTGTTTA	0.403000														134			36		0	0	0.001485	0	0
ZBTB39	9880	broad.mit.edu	37	12	57396571	57396572	+	Missense_Mutation	DNP	CC	TT	TT	rs140799751		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:57396571_57396572CC>TT	uc001sml.2	-	1	2283_2284	c.2130_2131GG>AA	c.(2128-2133)ccggac>ccAAac	p.D711N	ZBTB39_uc021qzg.1_Missense_Mutation_p.D711N	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P710L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGTCAACTGTCCGGGTTCTTAT	0.550000														52			16		0	0	0.004672	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9558784	9558784	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:9558784G>T	uc002qzj.3	-	1	220	c.43C>A	c.(43-45)Caa>Aaa	p.Q15K	ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Missense_Mutation_p.Q15K|ITGB1BP1_uc002qzl.3_Non-coding_Transcript|ITGB1BP1_uc010yiy.2_Intron|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.Q15K	NM_004763	NP_004754	O14713	ITBP1_HUMAN	Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.	15	Ser/Thr-rich.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	p.Q15K(2)|p.S14P(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCGCTACTTTGGGAACTGCTA	0.393000														291			7		0.00448238	0.00950053	0.004482	1	0
CACNA1G	8913	broad.mit.edu	37	17	48695601	48695601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:48695601C>T	uc002irk.1	+	31	5696	c.5324C>T	c.(5323-5325)cCc>cTc	p.P1775L	CACNA1G_uc002irj.1_Missense_Mutation_p.P1741L|CACNA1G_uc002irl.1_Missense_Mutation_p.P1752L|CACNA1G_uc002irm.1_Missense_Mutation_p.P1741L|CACNA1G_uc002irn.1_Missense_Mutation_p.P1734L|CACNA1G_uc002iro.1_Missense_Mutation_p.P1741L|CACNA1G_uc002irp.1_Missense_Mutation_p.P1775L|CACNA1G_uc002irq.1_Missense_Mutation_p.P1752L|CACNA1G_uc002irr.1_Missense_Mutation_p.P1775L|CACNA1G_uc002irs.1_Missense_Mutation_p.P1764L|CACNA1G_uc002irt.1_Missense_Mutation_p.P1757L|CACNA1G_uc002iru.1_Missense_Mutation_p.P1741L|CACNA1G_uc002irv.1_Missense_Mutation_p.P1764L|CACNA1G_uc002irw.1_Missense_Mutation_p.P1752L|CACNA1G_uc002irx.1_Missense_Mutation_p.P1688L|CACNA1G_uc002iry.1_Missense_Mutation_p.P1677L|CACNA1G_uc002isg.1_Missense_Mutation_p.P1636L|CACNA1G_uc002ish.1_Missense_Mutation_p.P1643L|CACNA1G_uc002isi.1_Missense_Mutation_p.P1631L|CACNA1G_uc002irz.1_Missense_Mutation_p.P1681L|CACNA1G_uc002isa.1_Missense_Mutation_p.P1654L|CACNA1G_uc002isd.1_Missense_Mutation_p.P1663L|CACNA1G_uc002isb.1_Missense_Mutation_p.P1695L|CACNA1G_uc002isc.1_Missense_Mutation_p.P1677L|CACNA1G_uc002ise.1_Missense_Mutation_p.P1643L|CACNA1G_uc002isf.1_Missense_Mutation_p.P1670L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1775					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.P1775H(3)|p.P1741H(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGACACACCCCTGTGAGGGC	0.612000														61			26		0	0	0.005443	0	0
IL2RB	3560	broad.mit.edu	37	22	37533707	37533707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:37533707C>T	uc003aqv.1	-	5	588	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	153	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.W152*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGGGAGATTTCCCAGCTTATG	0.597000														80			16		0	0	0.004007	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787510	73787510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:73787510G>A	uc011dyh.2	+	4	1165	c.818G>A	c.(817-819)gGa>gAa	p.G273E	KCNQ5_uc003pgj.4_Missense_Mutation_p.G273E|KCNQ5_uc011dyi.2_Missense_Mutation_p.G273E|KCNQ5_uc010kat.3_Missense_Mutation_p.G273E|KCNQ5_uc003pgk.3_Missense_Mutation_p.G273E|KCNQ5_uc011dyj.2_Missense_Mutation_p.G273E|KCNQ5_uc011dyk.2_Missense_Mutation_p.G32E	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	273					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGTACATAGGATTTTTGGTT	0.348000														44			8		0	0	0.004482	0	0
TRERF1	55809	broad.mit.edu	37	6	42236589	42236589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:42236589C>T	uc003ose.2	-	4	1303	c.740G>A	c.(739-741)gGa>gAa	p.G247E	TRERF1_uc011duq.1_Missense_Mutation_p.G247E|TRERF1_uc003osb.2_Missense_Mutation_p.G86E|TRERF1_uc003osc.2_Missense_Mutation_p.G86E|TRERF1_uc003osd.2_Missense_Mutation_p.G247E	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	247	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCTGTCCTCCCTGCACTGG	0.602000														57			14		0	0	0.004007	0	0
OR2W5	441932	broad.mit.edu	37	1	247655180	247655180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:247655180C>T	uc001icz.2	+	0	811	c.751C>T	c.(751-753)Ctt>Ttt	p.L251F		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGTCTCTCTCTTCTACGGAA	0.542000														61			20		0	0	0.000958	0	0
GRID2	2895	broad.mit.edu	37	4	94344033	94344033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:94344033G>A	uc011cdt.2	+	9	1717	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	GRID2_uc011cdu.2_Missense_Mutation_p.E392K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	487					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.E487Q(2)|p.Y486N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTTAACTACGAAATTTACGT	0.418000														44			9		0	0	0.004482	0	0
INF2	64423	broad.mit.edu	37	14	105174326	105174326	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:105174326C>T	uc001ypb.2	+	7	1865	c.1722C>T	c.(1720-1722)tcC>tcT	p.S574S	INF2_uc001ypc.2_Silent_p.S574S|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	574	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGCTGCCATCCAACGTGGCAC	0.642000														35			7		0	0	0.001984	0	0
TMEM171	134285	broad.mit.edu	37	5	72419678	72419678	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:72419678T>C	uc003kcm.2	+	1	682	c.478T>C	c.(478-480)Ttc>Ctc	p.F160L	TMEM171_uc003kcn.3_Missense_Mutation_p.F160L	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	Homo sapiens transmembrane protein 171 (TMEM171), transcript variant 1, mRNA.	160						integral to membrane		p.G159V(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GATGTGTGGGTTCCTTTCTCT	0.557000														84			20		0	0	0.001523	0	0
LOC283922	283922	broad.mit.edu	37	16	74372645	74372645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:74372645G>A	uc002fcr.2	-	8	1660	c.314C>T	c.(313-315)cCt>cTt	p.P105L	LOC283922_uc010vms.1_Non-coding_Transcript					Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA.																		ACCCTTGTCAGGGGGAACAAA	0.443000														33			4		0	0	0.001168	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64641303	64641303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:64641303G>A	uc003dmg.3	-	5	1150	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	ADAMTS9_uc011bfo.2_Missense_Mutation_p.S345L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.S202L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.S373L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	373	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACTGTTCTTCGAATGCTGCCA	0.378000														383			84		0	0	0.003610	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317232	30317232	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:30317232C>T	uc009xle.2	-	2	1982	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	KIAA1462_uc001iux.3_Silent_p.K615K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.K477K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	615										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GAGCCGGGCTCTTATCAGACC	0.498000														70			12		0	0	0.000978	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502614	90502614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:90502614G>A	uc004app.4	+	3	3247	c.3212G>A	c.(3211-3213)gGg>gAg	p.G1071E		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1071						integral to membrane											GGGGCTCTGGGGACCACTGGT	0.587000														76			24		0	0	0.005443	0	0
MAGI1	9223	broad.mit.edu	37	3	65479297	65479297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:65479297C>T	uc003dmn.3	-	2	966	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	MAGI1_uc003dmm.3_Missense_Mutation_p.R147Q|MAGI1_uc003dmo.3_Missense_Mutation_p.R147Q|MAGI1_uc003dmp.3_Missense_Mutation_p.R147Q|MAGI1_uc010hny.2_Missense_Mutation_p.R31Q|MAGI1_uc021xac.1_Missense_Mutation_p.R147Q|MAGI1_uc003dmr.3_Missense_Mutation_p.R147Q	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	147	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.R147R(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCTGGGAGATCGGGTTGTGCC	0.463000														40			13		0	0	0.001368	0	0
C17orf67	339210	broad.mit.edu	37	17	54892285	54892285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:54892285C>T	uc010dci.3	-	1	301	c.173G>A	c.(172-174)aGa>aAa	p.R58K	C17orf67_uc002iuq.3_Non-coding_Transcript	NM_001085430	NP_001078899	Q0P5P2	CQ067_HUMAN	Homo sapiens chromosome 17 open reading frame 67 (C17orf67), mRNA.	58						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TCGCCGAGATCTTAGGAGCTG	0.512000														435			94		0	0	0.003610	0	0
SKIV2L	6499	broad.mit.edu	37	6	31935791	31935791	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:31935791C>T	uc003nyn.1	+	22	3179	c.2790C>T	c.(2788-2790)acC>acT	p.T930T	SKIV2L_uc011dou.1_Silent_p.T772T|SKIV2L_uc011dov.1_Silent_p.T737T	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	930						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCATCACCACCAAGGTGCTCC	0.567000														154			33		0	0	0.004878	0	0
MORC1	27136	broad.mit.edu	37	3	108773659	108773659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:108773659C>T	uc003dxl.3	-	13	1333	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	MORC1_uc011bhn.2_Missense_Mutation_p.E416K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	416					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						TTGAGAAATTCCTGTTTATTA	0.388000														81			16		0	0	0.004007	0	0
TTLL6	284076	broad.mit.edu	37	17	46867348	46867348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:46867348C>T	uc021tzm.1	-	9	1380	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	TTLL6_uc002iob.3_Missense_Mutation_p.E142K|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Missense_Mutation_p.E202K|TTLL6_uc002iod.3_Missense_Mutation_p.E296K	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	401						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTCTCCTCCTCCAAGACTTTC	0.537000														57			13		0	0	0.002450	0	0
LAMA3	3909	broad.mit.edu	37	18	21501544	21501544	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:21501544G>A	uc002kuq.3	+	61	8258	c.8172G>A	c.(8170-8172)agG>agA	p.R2724R	LAMA3_uc002kur.3_Silent_p.R2668R|LAMA3_uc002kus.4_Silent_p.R1115R|LAMA3_uc002kut.4_Silent_p.R1059R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2724	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.I2723I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCAATCAGGGAAAGGTAAG	0.338000														99			22		0	0	0.005443	0	0
SALL4	57167	broad.mit.edu	37	20	50407792	50407792	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:50407792G>A	uc002xwh.4	-	1	1331	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	410					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGAGCACACGAAGGGTCTCT	0.557000														44			14		0	0	0.001855	0	0
AHR	196	broad.mit.edu	37	7	17379730	17379731	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:17379730_17379731CC>TT	uc011jxz.1	+	9	2894_2895	c.2281_2282CC>TT	c.(2281-2283)cct>TTt	p.P761F		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	761					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)					CATAATAACTCCTCAGACATGT	0.470000														96			13		0	0	0.004672	0	0
UMODL1	89766	broad.mit.edu	37	21	43547937	43547937	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:43547937A>G	uc002zag.1	+	18	4070	c.4070A>G	c.(4069-4071)aAa>aGa	p.K1357R	UMODL1_uc002zad.1_Missense_Mutation_p.K1157R|UMODL1_uc002zae.1_Missense_Mutation_p.K1285R|UMODL1_uc002zaf.1_Missense_Mutation_p.K1229R|UMODL1_uc002zal.1_Missense_Mutation_p.K179R|UMODL1_uc010gpa.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1229						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACGTGCAAAATCGTAAGT	0.473000														67			9		0	0	0.004482	0	0
OR4X1	390113	broad.mit.edu	37	11	48286288	48286288	+	Silent	SNP	G	A	A	rs140713653		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:48286288G>A	uc010rht.2	+	0	876	c.876G>A	c.(874-876)gtG>gtA	p.V292V		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V292V(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATGCTGAAGTGAAAAATGCCA	0.413000														35			11		0	0	0.000673	0	0
CTBP1	1487	broad.mit.edu	37	4	1208229	1208229	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:1208229G>A	uc003gcw.3	-	5	960	c.795C>T	c.(793-795)gcC>gcT	p.A265A	AX747592_uc003gcs.1_Intron|CTBP1_uc003gcu.1_Silent_p.A254A|CTBP1_uc003gcv.1_Silent_p.A265A	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	265					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGCCACCCCGGGCTGTGTTCA	0.662000														14			3		0	0	0.004672	0	0
CNBD1	168975	broad.mit.edu	37	8	88249162	88249162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:88249162G>A	uc003ydy.2	+	5	641	c.593G>A	c.(592-594)gGa>gAa	p.G198E		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	198								p.G198E(3)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GCAAATGATGGATTTTATGTA	0.348000														95			21		0	0	0.002780	0	0
LAS1L	81887	broad.mit.edu	37	X	64753590	64753590	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:64753590C>G	uc004dwa.2	-	1	353	c.262G>C	c.(262-264)Gtg>Ctg	p.V88L	LAS1L_uc004dwc.2_Missense_Mutation_p.V88L|LAS1L_uc004dwd.2_Intron	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	88						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GTAGAAGCCACTGCCAGAGGG	0.522000														28			26		0	0	0.004656	0	0
MYH8	4626	broad.mit.edu	37	17	10303905	10303905	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:10303905C>T	uc002gmm.2	-	26	3632	c.3537G>A	c.(3535-3537)agG>agA	p.R1179R	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1179					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCCAGGTCCCTGCGCAGTT	0.567000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					89			18		0	0	0.000958	0	0
GPSM1	26086	broad.mit.edu	37	9	139252529	139252529	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:139252529C>G	uc004chd.2	+	13	2105	c.1885C>G	c.(1885-1887)Ccg>Gcg	p.P629A	GPSM1_uc011mdu.1_Missense_Mutation_p.P120A|GPSM1_uc022bpn.1_Missense_Mutation_p.P120A|GPSM1_uc004che.2_Missense_Mutation_p.P120A	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	629					cell differentiation|nervous system development|signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|plasma membrane	GTPase activator activity|binding			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCCTACCATGCCGGACGAGGA	0.697000														21			7		0	0	0.001984	0	0
PROKR1	10887	broad.mit.edu	37	2	68873115	68873115	+	Silent	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:68873115T>C	uc010yqj.2	+	0	322	c.162T>C	c.(160-162)aaT>aaC	p.N54N	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	54						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATGTGACCAATTCCAGGACGT	0.512000														125			29		0	0	0.001786	0	0
TLR4	7099	broad.mit.edu	37	9	120475867	120475867	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:120475867C>T	uc004bjz.3	+	2	1752	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	TLR4_uc004bkb.3_Silent_p.F287F|TLR4_uc004bka.3_Silent_p.F447F	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	487					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGGAAAACTTCCTTCCAGATA	0.448000														56			21		0	0	0.001216	0	0
NGFR	4804	broad.mit.edu	37	17	47587860	47587860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:47587860C>T	uc002ioz.4	+	3	780	c.655C>T	c.(655-657)Cca>Tca	p.P219S		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	219	Ser/Thr-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		p.P218T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TGAGGCACCTCCAGAACAAGA	0.637000														58			14		0	0	0.001855	0	0
B9D1	27077	broad.mit.edu	37	17	19263689	19263689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:19263689C>T	uc010vys.2	-	1	240	c.228G>A	c.(226-228)atG>atA	p.M76I	B9D1_uc010cqm.1_Missense_Mutation_p.M1I|B9D1_uc002gvk.4_Missense_Mutation_p.D26N|B9D1_uc010vyr.2_Missense_Mutation_p.M45I|B9D1_uc010cqn.2_Missense_Mutation_p.M76I	NM_001243473	NP_001230402	Q9UPM9	B9D1_HUMAN	Homo sapiens B9 protein domain 1 (B9D1), transcript variant 1, mRNA.	0	B9.				cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TAGAGGTCATCATACTCTGGA	0.517000														107			27		0	0	0.001061	0	0
TRAPPC3	27095	broad.mit.edu	37	1	36603448	36603448	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:36603448G>A	uc001bzx.3	-	3	460	c.372C>T	c.(370-372)tcC>tcT	p.S124S		NM_014408	NP_055223	O43617	TPPC3_HUMAN	Homo sapiens trafficking protein particle complex 3 (TRAPPC3), mRNA.	124						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				AATAAATAAGGGATGAGTGGT	0.458000														60			20		0	0	0.001216	0	0
IQCE	23288	broad.mit.edu	37	7	2611180	2611180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:2611180C>T	uc003sml.1	+	3	335	c.151C>T	c.(151-153)Ccg>Tcg	p.P51S	IQCE_uc010ksm.1_Missense_Mutation_p.P51S|IQCE_uc011jvy.1_Missense_Mutation_p.P35S|IQCE_uc011jvz.1_5'UTR|IQCE_uc003smo.4_Missense_Mutation_p.P51S|IQCE_uc003smk.4_Missense_Mutation_p.P35S|IQCE_uc003smn.4_5'UTR	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	51										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TCTCTCTAAGCCGAGAAAAGT	0.577000														101			19		0	0	0.001216	0	0
C15orf2	23742	broad.mit.edu	37	15	24923560	24923560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:24923560G>A	uc001ywo.3	+	0	3020	c.2546G>A	c.(2545-2547)cGa>cAa	p.R849Q		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	849					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)		GAGTACATCCGATTTTATATG	0.502000														48			12		0	0	0.000978	0	0
TMCO3	55002	broad.mit.edu	37	13	114202694	114202694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr13:114202694G>A	uc001vtu.4	+	11	2208	c.1847G>A	c.(1846-1848)gGg>gAg	p.G616E		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	616						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GTCTCTGCGGGGCTTGCCCAG	0.627000														48			15		0	0	0.003163	0	0
PRSS58	136541	broad.mit.edu	37	7	141955402	141955402	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:141955402G>A	uc003vxb.3	-	1	452	c.132C>T	c.(130-132)gtC>gtT	p.V44V	PRSS58_uc003vxc.4_Silent_p.V44V	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	44	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GGTGGATCAGGACTCCAGCGC	0.493000														57			23		0	0	0.002299	0	0
EMR3	84658	broad.mit.edu	37	19	14785576	14785576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:14785576C>T	uc002mzi.4	-	0	155	c.7G>A	c.(7-9)Gga>Aga	p.G3R	EMR3_uc010dzp.3_Missense_Mutation_p.G3R|EMR3_uc010xnv.2_Missense_Mutation_p.G3R	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	3					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGCAATGGTCCCTGCATTTCT	0.502000														64			18		0	0	0.006122	0	0
KIF5A	3798	broad.mit.edu	37	12	57966362	57966362	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:57966362G>A	uc001sor.1	+	15	1778	c.1570_splice	c.e15-1	p.A524_splice	KIF5A_uc010srr.1_Splice_Site_p.A435_splice	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	524					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCTGTCCCCAGGCCACCATGC	0.607000														30			12		0	0	0.001368	0	0
SIRT7	51547	broad.mit.edu	37	17	79872373	79872373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:79872373C>T	uc002kcj.2	-	6	664	c.613G>A	c.(613-615)Gtg>Atg	p.V205M		NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	Homo sapiens sirtuin 7 (SIRT7), mRNA.	205	Deacetylase sirtuin-type.				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)			AACACCCGCACGTACTCCCTG	0.637000														89			30		0	0	0.002445	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131497	35131497	+	Silent	SNP	G	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:35131497G>T	uc003teq.1	-	19	2196	c.1089C>A	c.(1087-1089)ccC>ccA	p.P363P	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GATTCACAATGGGATGAAGTG	0.413000														109			6		0.00448238	0.00950053	0.004482	1	0
SCN5A	6331	broad.mit.edu	37	3	38622716	38622716	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:38622716C>T	uc021wvo.1	-	15	2986	c.2934G>A	c.(2932-2934)tgG>tgA	p.W978*	SCN5A_uc021wvk.1_Nonsense_Mutation_p.W978*|SCN5A_uc021wvl.1_Nonsense_Mutation_p.W978*|SCN5A_uc021wvm.1_Nonsense_Mutation_p.W978*|SCN5A_uc021wvn.1_Nonsense_Mutation_p.W978*|SCN5A_uc021wvp.1_Nonsense_Mutation_p.W978*|SCN5A_uc021wvq.1_Nonsense_Mutation_p.W978*|SCN5A_uc021wvr.1_Nonsense_Mutation_p.W978*|SCN5A_uc021wvs.1_Nonsense_Mutation_p.W978*|SCN5A_uc021wvt.1_Nonsense_Mutation_p.W978*|SCN5A_uc021wvu.1_Nonsense_Mutation_p.W978*|SCN5A_uc021wvv.1_Nonsense_Mutation_p.W978*|SCN5A_uc021wvj.1_Nonsense_Mutation_p.W844*|SCN5A_uc021wvi.1_Nonsense_Mutation_p.W844*|SCN5A_uc021wvw.1_Nonsense_Mutation_p.W589*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGCAGAAATCCCAGGTGGTCC	0.662000														9			5		0	0	0.000602	0	0
GREB1	9687	broad.mit.edu	37	2	11706653	11706653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:11706653G>A	uc002rbk.1	+	3	625	c.325G>A	c.(325-327)Gag>Aag	p.E109K	GREB1_uc002rbl.3_Missense_Mutation_p.E109K|GREB1_uc002rbm.3_5'UTR|GREB1_uc002rbn.1_Missense_Mutation_p.E109K	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	109						integral to membrane		p.E109E(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CATTTCCAACGAGCCCATGGA	0.642000														55			18		0	0	0.000958	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369409	19369409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:19369409C>T	uc002nmb.3	-	3	850	c.740G>A	c.(739-741)gGg>gAg	p.G247E	HAPLN4_uc002nmc.3_Missense_Mutation_p.G247E	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	247	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GCGCAGGCCCCCGTTGGCATC	0.697000														34			11		0	0	0.000673	0	0
HFE2	148738	broad.mit.edu	37	1	145416393	145416393	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:145416393C>T	uc001eni.2	+	3	1063	c.738C>T	c.(736-738)gcC>gcT	p.A246A	HFE2_uc001enk.2_Silent_p.A133A|HFE2_uc001enj.2_Silent_p.A20A|HFE2_uc001enl.2_Silent_p.A20A|HFE2_uc021oux.1_Silent_p.A20A	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	246					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCTGTAGCCTTTGAAGATG	0.473000														83			16		0	0	0.004007	0	0
TP53I3	9540	broad.mit.edu	37	2	24300515	24300515	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:24300515C>T	uc002rey.2	-	5	1423	c.933G>A	c.(931-933)caG>caA	p.Q311Q	LOC375190_uc002rew.3_Intron|SF3B14_uc002rev.3_5'Flank|SF3B14_uc010eyb.3_5'Flank|TP53I3_uc002rex.2_Missense_Mutation_p.G246R|TP53I3_uc002rez.2_Silent_p.Q311Q|TP53I3_uc010ykk.2_Silent_p.Q222Q	NM_147184	NP_671713	Q53FA7	QORX_HUMAN	Homo sapiens tumor protein p53 inducible protein 3 (TP53I3), transcript variant 2, mRNA.	311					NADP metabolic process|induction of apoptosis by oxidative stress		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGGGCCTCCTGGATTTCGG	0.577000														57			14		0	0	0.004007	0	0
LIPF	8513	broad.mit.edu	37	10	90435980	90435980	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:90435980G>A	uc001kfg.2	+	8	1017	c.903G>A	c.(901-903)ggG>ggA	p.G301G	LIPF_uc001kfh.2_Silent_p.G278G|LIPF_uc010qmt.2_Silent_p.G311G|LIPF_uc010qmu.2_Silent_p.G268G	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	301					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTAAGTCTGGGAAATTCCAAG	0.308000														54			9		0	0	0.000443	0	0
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	Silent	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:155252868T>A	uc004fnw.1	+	5	1571	c.912T>A	c.(910-912)ccT>ccA	p.P304P	WASH6P_uc022cip.1_Silent_p.P90P	NM_182905	NP_878908			Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.									p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000														3			3		0	0	0.004672	0	0
MREG	55686	broad.mit.edu	37	2	216810397	216810397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:216810397G>A	uc002vfo.3	-	3	703	c.407C>T	c.(406-408)tCt>tTt	p.S136F		NM_018000	NP_060470	Q8N565	MREG_HUMAN	Homo sapiens melanoregulin (MREG), mRNA.	136						apical plasma membrane				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		TGTGTTTTTAGAATCACTGAT	0.393000														44			9		0	0	0.004482	0	0
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58079728	58079728	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:58079728C>T	uc002iyf.2	-	4	218	c.-17_splice	c.e4-1							Homo sapiens TBC1D3P1-DHX40P1 readthrough (non-protein coding) (TBC1D3P1-DHX40P1), non-coding RNA.																		ATTGCTGTCTCCTAATGTTCA	0.368000														75			41		0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57768463	57768463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:57768463G>A	uc002yan.3	+	0	2389	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	797						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)					GGATGTTCAGGAGACCTGCCT	0.637000														24			6		0	0	0.001984	0	0
EFEMP2	30008	broad.mit.edu	37	11	65634494	65634494	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:65634494C>T	uc001ofy.4	-	10	1486	c.1227G>A	c.(1225-1227)cgG>cgA	p.R409R	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	409					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	p.P408S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCACGTACTCCCGGGGGCCCG	0.607000														45			9		0	0	0.000673	0	0
TUBG2	27175	broad.mit.edu	37	17	40818629	40818629	+	Silent	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:40818629A>G	uc010wgr.2	+	10	1423	c.1167A>G	c.(1165-1167)gaA>gaG	p.E389E	TUBG2_uc002iap.3_Silent_p.E236E	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.	389					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGCTCTTTGAAAGTTCCTGCC	0.498000														36			14		0	0	0.004007	0	0
PKD1L1	168507	broad.mit.edu	37	7	47814750	47814750	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:47814750C>T	uc003tny.2	-	56	8575	c.8541G>A	c.(8539-8541)aaG>aaA	p.K2847K		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2847					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTCAGAAGTCCTTGATGTCTG	0.448000														112			51		0	0	0.003610	0	0
OR51S1	119692	broad.mit.edu	37	11	4869859	4869859	+	Missense_Mutation	SNP	G	A	A	rs142743963	byFrequency	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:4869859G>A	uc010qyo.2	-	0	580	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R194C(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		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)		CAGGCCAAACGAGCCACATCT	0.552000														73			14		0	0	0.003163	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992828	96992828	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:96992828C>T	uc002svy.3	+	0	894	c.483C>T	c.(481-483)gtC>gtT	p.V161V	ITPRIPL1_uc002svx.3_Silent_p.V153V|ITPRIPL1_uc010yuk.2_Silent_p.V145V|ITPRIPL1_uc010yul.2_Silent_p.V145V	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	153						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGTCCCTGTCACCTCTTACA	0.532000														57			16		0	0	0.003163	0	0
FANCA	2175	broad.mit.edu	37	16	89831401	89831401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:89831401G>A	uc002fou.1	-	27	2717	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	FANCA_uc010vpn.1_Missense_Mutation_p.S892F|FANCA_uc010vpo.2_Missense_Mutation_p.S21F	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	892					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGTCTCCAGGAAAGGCTGGC	0.532000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					88			12		0	0	0.001368	0	0
PHB2	11331	broad.mit.edu	37	12	7079698	7079698	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:7079698C>T	uc021quf.1	-	0	219	c.9G>A	c.(7-9)caG>caA	p.Q3Q	PHB2_uc021qug.1_Silent_p.Q3Q|PHB2_uc010sft.1_Silent_p.Q3Q|PHB2_uc010sfu.1_Silent_p.Q3Q|EMG1_uc009zfo.2_5'Flank|EMG1_uc001qsh.4_5'Flank|EMG1_uc010sfv.1_5'Flank	NM_007273	NP_001138303	Q99623	PHB2_HUMAN	Homo sapiens prohibitin 2 (PHB2), transcript variant 2, mRNA.	3					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CCTTCAAGTTCTGGGCCATGT	0.706000														32			10		0	0	0.000673	0	0
FARSB	10056	broad.mit.edu	37	2	223464667	223464667	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:223464667T>A	uc010zlq.1	-	16	1693	c.1658A>T	c.(1657-1659)tAt>tTt	p.Y553F	FARSB_uc002vne.1_Missense_Mutation_p.Y533F|FARSB_uc002vnf.1_Missense_Mutation_p.Y434F	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA.	533					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTTGATCACATATCCCCCCTT	0.448000														119			22		0	0	0.004656	0	0
AADACL2	344752	broad.mit.edu	37	3	151474812	151474812	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:151474812C>G	uc003ezc.3	+	4	756	c.636C>G	c.(634-636)atC>atG	p.I212M	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	212						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)			AACATAAAATCAAGATGCAAG	0.328000														50			18		0	0	0.001216	0	0
PIK3R5	23533	broad.mit.edu	37	17	8789918	8789918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:8789918G>A	uc002glt.3	-	12	1977	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F	PIK3R5_uc010vuz.2_Missense_Mutation_p.S637F|PIK3R5_uc021tqc.1_Missense_Mutation_p.S251F|PIK3R5_uc010cob.2_Missense_Mutation_p.S251F|PIK3R5_uc010coa.2_Missense_Mutation_p.S251F|PIK3R5_uc002glu.4_Missense_Mutation_p.S251F	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	637					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGCCTTCAGGGACTGCTGTGG	0.592000														93			17		0	0	0.001216	0	0
MICA	100507436	broad.mit.edu	37	6	31378342	31378343	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:31378342_31378343CC>TT	uc003ntk.1	+	1	132_133	c.93_94CC>TT	c.(91-96)aacctc>aaTTtc	p.L32F	MICA_uc003rxz.1_5'UTR|MICA_uc021yun.1_5'UTR|MICA_uc021yuo.1_5'UTR	NM_001177519	NP_001170990	Q29983	MICA_HUMAN	Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA.	32					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TTCGTTATAACCTCACGGTGCT	0.500000														25			4		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9084946	9084946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:9084946G>A	uc002mkp.3	-	0	7073	c.6869C>T	c.(6868-6870)cCt>cTt	p.P2290L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2290	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						CCCAGGAATAGGTGTCACTCT	0.448000														20			9		0	0	0.004482	0	0
OR5P3	120066	broad.mit.edu	37	11	7847391	7847391	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:7847391G>A	uc010rbg.2	-	0	129	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAATTATGCTGATATTACCCA	0.363000														72			13		0	0	0.001855	0	0
SCAMP1	9522	broad.mit.edu	37	5	77745826	77745826	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:77745826C>T	uc003kfl.3	+	6	859	c.702C>T	c.(700-702)ctC>ctT	p.L234L	SCAMP1_uc010jaa.3_Non-coding_Transcript|SCAMP1_uc011ctc.2_Non-coding_Transcript|SCAMP1_uc011ctd.2_Non-coding_Transcript|SCAMP1_uc003kfm.3_Intron	NM_004866	NP_004857	O15126	SCAM1_HUMAN	Homo sapiens secretory carrier membrane protein 1 (SCAMP1), mRNA.	234					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TACATGTACTCCAAGCTGCAG	0.294000														156			18		0	0	0.001216	0	0
CHRND	1144	broad.mit.edu	37	2	233393332	233393332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:233393332C>T	uc002vsw.3	+	4	479	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.P144S|CHRND_uc010zmh.2_Silent_p.S68S	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	159					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CACCTATTTCCCCTTCGACTG	0.582000														71			17		0	0	0.004990	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112556	148112556	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:148112556C>T	uc003weu.2	+	23	4360	c.3844C>T	c.(3844-3846)Ctg>Ttg	p.L1282L	CNTNAP2_uc003wev.2_Silent_p.L59L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1282					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	p.L1282L(2)		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)			CCTGGTCTTCCTGATCCGGTA	0.582000										HNSCC(39;0.1)				53			9		0	0	0.000443	0	0
WDR64	128025	broad.mit.edu	37	1	241912906	241912906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:241912906G>A	uc001hzg.2	+	12	1829	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E	WDR64_uc021plh.1_Missense_Mutation_p.G335E|WDR64_uc021pli.1_Missense_Mutation_p.G261E	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	541										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TTGCCGGAGGGGAAAGACTGG	0.522000														82			31		0	0	0.001512	0	0
CNTRL	11064	broad.mit.edu	37	9	123858791	123858791	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:123858791A>C	uc004bkx.1	+	3	602	c.571A>C	c.(571-573)Aag>Cag	p.K191Q	CNTRL_uc004bkw.2_Missense_Mutation_p.K191Q	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	191					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GTTAGGGAAGAAGTTAAAATC	0.328000														84			17		0	0	0.000958	0	0
MYOCD	93649	broad.mit.edu	37	17	12666801	12666801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:12666801C>T	uc002gno.2	+	13	3100	c.2801C>T	c.(2800-2802)cCc>cTc	p.P934L	MYOCD_uc002gnn.2_Missense_Mutation_p.P886L|MYOCD_uc002gnq.2_Missense_Mutation_p.P610L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	886					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.P934L(1)|p.P886L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACTGAATCTCCCTGGGAAACC	0.547000														37			9		0	0	0.001368	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987342	154987342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:154987342G>A	uc001fgj.4	+	4	593	c.308G>A	c.(307-309)gGa>gAa	p.G103E	ZBTB7B_uc009wpa.3_Missense_Mutation_p.G69E|ZBTB7B_uc001fgk.4_Missense_Mutation_p.G69E|ZBTB7B_uc010peq.2_Missense_Mutation_p.G103E|ZBTB7B_uc001fgl.4_Missense_Mutation_p.G69E	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	69	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCGGTGGCGGAGCTGTCATG	0.652000														63			15		0	0	0.002450	0	0
MAK	4117	broad.mit.edu	37	6	10764829	10764829	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:10764829C>T	uc021ylk.1	-	14	2085	c.1803G>A	c.(1801-1803)tgG>tgA	p.W601*	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Nonsense_Mutation_p.W576*|MAK_uc021yll.1_Nonsense_Mutation_p.W536*	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	576					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTTTTGTGTTCCAGGTATATT	0.388000														81			13		0	0	0.001855	0	0
TIGD4	201798	broad.mit.edu	37	4	153691255	153691255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:153691255G>A	uc003imy.3	-	1	1723	c.902C>T	c.(901-903)tCc>tTc	p.S301F	TIGD4_uc021xtf.1_Missense_Mutation_p.S301F	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	301	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding	p.S301F(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TAACTCAATGGATTTTAGGTT	0.368000														74			15		0	0	0.003163	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391771	139391771	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:139391771G>A	uc004chz.3	-	33	6420	c.6420C>T	c.(6418-6420)tgC>tgT	p.C2140C		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2140					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)		CGTTGGGCGAGCAGAGCGGGG	0.697000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				22			10		0	0	0.000443	0	0
MICALL2	79778	broad.mit.edu	37	7	1488346	1488346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:1488346C>T	uc003skj.4	-	2	391	c.244G>A	c.(244-246)Gag>Aag	p.E82K		NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	82	CH.					cytoplasm|cytoskeleton	zinc ion binding	p.E82*(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACCATGTCCTCGGCATCCAGC	0.642000														120			17		0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179449219	179449219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:179449219C>T	uc021vsy.1	-	259	57580	c.57355G>A	c.(57355-57357)Gga>Aga	p.G19119R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G12814R|TTN_uc021vta.1_Missense_Mutation_p.G12747R|TTN_uc021vtb.1_Missense_Mutation_p.G12622R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20046	Fibronectin type-III 38.						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)			GGGCTCCCTCCATCACTATCT	0.448000														53			12		0	0	0.001368	0	0
ASXL3	80816	broad.mit.edu	37	18	31323901	31323901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:31323901G>A	uc010dmg.1	+	11	4144	c.4089G>A	c.(4087-4089)atG>atA	p.M1363I	ASXL3_uc002kxq.2_Missense_Mutation_p.M1070I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTCCCCCAATGGGAATTAACA	0.488000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		128			39		0	0	0.004878	0	0
HSPA14	51182	broad.mit.edu	37	10	14890856	14890856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:14890856C>T	uc001inf.3	+	4	479	c.338C>T	c.(337-339)cCa>cTa	p.P113L	HSPA14_uc010qbw.2_Missense_Mutation_p.P113L	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.	113					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TTTGTTAACCCAGAAGATGTT	0.249000														45			10		0	0	0.001855	0	0
PYGM	5837	broad.mit.edu	37	11	64526158	64526158	+	Silent	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:64526158A>G	uc001oax.4	-	1	1079	c.262T>C	c.(262-264)Tta>Cta	p.L88L	PYGM_uc001oay.4_Intron	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	88					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TAGAACTCTAAAGACAGGTAG	0.592000														46			5		0	0	0.001168	0	0
SCARB1	949	broad.mit.edu	37	12	125292418	125292418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:125292418G>A	uc001ugp.3	-	6	1151	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	SCARB1_uc001ugm.4_Missense_Mutation_p.R300C|SCARB1_uc001ugn.4_Missense_Mutation_p.R300C|SCARB1_uc010tbd.2_Missense_Mutation_p.R300C|SCARB1_uc001ugo.4_Missense_Mutation_p.R300C	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	300					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCCACGAAGCGATAGGTGGGG	0.577000														76			18		0	0	0.000958	0	0
LRIT2	340745	broad.mit.edu	37	10	85981822	85981822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:85981822G>A	uc010qmc.2	-	3	1545	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	LRIT2_uc001kcy.3_Missense_Mutation_p.R503C	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	503						integral to membrane		p.A512S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GCTTTCCTGCGATGAAGACAG	0.632000														66			17		0	0	0.006122	0	0
SOGA2	23255	broad.mit.edu	37	18	8784163	8784163	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:8784163G>A	uc002knr.2	+	5	1195	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	SOGA2_uc002knq.2_Silent_p.K351K|SOGA2_uc010dkw.1_Silent_p.K189K	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	702																	TCAGCGGCAAGGTGCTCAAAC	0.682000														42			6		0	0	0.001168	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36271932	36271932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:36271932G>A	uc002obs.2	+	10	1084	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	ARHGAP33_uc002obr.2_Missense_Mutation_p.G314S|ARHGAP33_uc002obt.2_Missense_Mutation_p.G178S|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	314					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GAGGGTGTTTGGCTGCGATCT	0.711000														44			14		0	0	0.003163	0	0
LINC00471	151477	broad.mit.edu	37	2	232373842	232373842	+	Silent	SNP	C	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:232373842C>A	uc002vrx.1	-	2	577	c.249G>T	c.(247-249)ggG>ggT	p.G83G						Homo sapiens long intergenic non-protein coding RNA 471 (LINC00471), non-coding RNA.																		TCATCGGGAACCCCCTACAGA	0.507000														137			36		1.06647e-15	2.30404e-15	0.003755	1	0
CMYA5	202333	broad.mit.edu	37	5	79054694	79054694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:79054694G>A	uc003kgc.3	+	6	11301	c.11229G>A	c.(11227-11229)atG>atA	p.M3743I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3743	Fibronectin type-III 1.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTACTGCATGGAGGAGCCAC	0.373000														107			24		0	0	0.001061	0	0
CTSA	5476	broad.mit.edu	37	20	44523489	44523490	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:44523489_44523490GG>AA	uc002xqh.3	+	9	1325_1326	c.951_952GG>AA	c.(949-954)caggat>caAAat	p.D318N	CTSA_uc002xqj.4_Missense_Mutation_p.D300N|CTSA_uc010zxi.2_Missense_Mutation_p.D301N|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	300					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTGTGGTCCAGGATTTGGGCAA	0.629000														100			28		0	0	0.004672	0	0
OVOS2	0	broad.mit.edu	37	12	31300929	31300929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:31300929G>A	uc010sjy.1	-	10	1331	c.1331C>T	c.(1330-1332)cCa>cTa	p.P444L						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AAGCTGCTTTGGTTCTGGAAC	0.428000														238			68		0	0	0.003610	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434164	69434164	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:69434164C>T	uc021xov.1	-	0	82	c.39G>A	c.(37-39)caG>caA	p.Q13Q		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	13					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						AACAACTGAGCTGCATCAGCA	0.428000														307			67		0	0	0.003610	0	0
DHX29	54505	broad.mit.edu	37	5	54579183	54579183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:54579183C>T	uc003jpx.3	-	10	1933	c.1813G>A	c.(1813-1815)Gta>Ata	p.V605I	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	605	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AAATGTGGTACCTGAGTACTT	0.413000														72			15		0	0	0.002450	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21013995	21013995	+	Missense_Mutation	SNP	C	T	T	rs150039066		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:21013995C>T	uc010sil.2	+	3	469	c.404C>T	c.(403-405)tCa>tTa	p.S135L	SLCO1B3_uc001rek.3_Missense_Mutation_p.S135L|SLCO1B3_uc001rel.3_Missense_Mutation_p.S135L|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	135					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)					TCAGAAAATTCAACATCAAGT	0.284000														48			9		0	0	0.004482	0	0
WDR46	9277	broad.mit.edu	37	6	33247142	33247142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:33247142G>A	uc003ods.3	-	14	2101	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	WDR46_uc011dra.2_Missense_Mutation_p.R528W	NM_005452	NP_005443	O15213	WDR46_HUMAN	Homo sapiens WD repeat domain 46 (WDR46), transcript variant 1, mRNA.	582										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						AGGCTCTGCCGGACCTTGTCC	0.642000														90			21		0	0	0.001523	0	0
SIRPG	55423	broad.mit.edu	37	20	1616214	1616214	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:1616214G>A	uc002wfm.1	-	3	845	c.780C>T	c.(778-780)ccC>ccT	p.P260P	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	260	Ig-like C1-type 2.				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						CCACCCTCATGGGCTGTTGAG	0.547000														44			14		0	0	0.006122	0	0
AHCYL2	23382	broad.mit.edu	37	7	129019555	129019555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:129019555C>T	uc011kov.2	+	1	503	c.440C>T	c.(439-441)tCc>tTc	p.S147F	AHCYL2_uc003vot.3_Missense_Mutation_p.S146F|AHCYL2_uc003vov.3_Missense_Mutation_p.S44F|AHCYL2_uc011kox.2_Missense_Mutation_p.S44F	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	147					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTGTCTCGTTCCATTTCTCAG	0.458000														51			6		0	0	0.001984	0	0
CNTN1	1272	broad.mit.edu	37	12	41423019	41423019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:41423019C>T	uc001rmm.1	+	22	3091	c.2978C>T	c.(2977-2979)tCa>tTa	p.S993L	CNTN1_uc001rmn.1_Missense_Mutation_p.S982L	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	993	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTCAAAATTTCAGGTAAGTGA	0.468000														83			12		0	0	0.001855	0	0
PRKG2	5593	broad.mit.edu	37	4	82090825	82090825	+	Silent	SNP	G	A	A	rs66957415		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:82090825G>A	uc003hmh.2	-	3	853	c.840C>T	c.(838-840)ttC>ttT	p.F280F	PRKG2_uc011cch.1_Silent_p.F280F	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	280					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACCTTCTGAGGAAGTTTCTGT	0.368000														54			14		0	0	0.001855	0	0
LPPR1	54886	broad.mit.edu	37	9	104032255	104032255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:104032255G>A	uc004bbb.3	+	2	556	c.157G>A	c.(157-159)Gga>Aga	p.G53R	LPPR1_uc011lvi.2_Missense_Mutation_p.G29R|LPPR1_uc004bbc.3_Missense_Mutation_p.G53R|LPPR1_uc010mtc.3_Missense_Mutation_p.G37R	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	53						integral to membrane	catalytic activity										CTGTCAGGACGGAGACTTAAT	0.493000														39			20		0	0	0.001523	0	0
KIAA0240	23506	broad.mit.edu	37	6	42797570	42797570	+	Missense_Mutation	SNP	C	T	T	rs147851446		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:42797570C>T	uc003osn.1	+	5	1650	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	KIAA0240_uc003osm.1_Missense_Mutation_p.P500L|KIAA0240_uc011duw.1_Missense_Mutation_p.P500L|KIAA0240_uc003oso.1_Missense_Mutation_p.P500L|KIAA0240_uc003osp.1_Missense_Mutation_p.P500L	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	500										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)			GGACAGATGCCCTTGCAGCAG	0.552000														79			14		0	0	0.002450	0	0
MGAM	8972	broad.mit.edu	37	7	141739966	141739966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:141739966G>A	uc003vwy.3	+	19	2422	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	790	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.E790K(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTATGACTACGAGACTGTAAG	0.418000														16			7		0	0	0.004482	0	0
TBL3	10607	broad.mit.edu	37	16	2025406	2025407	+	Missense_Mutation	DNP	CC	TT	TT	rs141126567		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:2025406_2025407CC>TT	uc002cnu.1	+	8	874_875	c.772_773CC>TT	c.(772-774)cca>TTa	p.P258L	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Missense_Mutation_p.P144L|TBL3_uc010bsc.1_Missense_Mutation_p.P144L|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	258					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TGTGAAGTCCCCAGGGCTGTAC	0.629000														77			20		0	0	0.004672	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273852	18273852	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:18273852C>T	uc002nia.1	+	9	1697	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	395	SH2 1.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CACTCACCTTCTGCTCCGTTG	0.567000														35			7		0	0	0.001984	0	0
OR8G1	26494	broad.mit.edu	37	11	124120671	124120671	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:124120671G>A	uc001pzx.3	+	0	249	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		AGATGCTGGTGAACTTTGTGA	0.468000														85			11		0	0	0.001855	0	0
NLRP1	22861	broad.mit.edu	37	17	5461997	5461997	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:5461997G>A	uc002gci.3	-	3	2574	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	NLRP1_uc002gcg.1_Silent_p.F673F|NLRP1_uc002gch.4_Silent_p.F673F|NLRP1_uc002gck.3_Silent_p.F673F|NLRP1_uc002gcj.3_Silent_p.F673F|NLRP1_uc002gcl.3_Silent_p.F673F|NLRP1_uc010clh.3_Silent_p.F673F	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	673					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)				GGCCCAATAGGAAACGTGTGG	0.498000														90			19		0	0	0.001216	0	0
FUT9	10690	broad.mit.edu	37	6	96652049	96652049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:96652049C>T	uc003pop.4	+	2	1359	c.1018C>T	c.(1018-1020)Cat>Tat	p.H340Y	FUT9_uc021zcw.1_Missense_Mutation_p.H340Y	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	340					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGCTTGCGATCATGTGAAAAG	0.318000														43			15		0	0	0.004007	0	0
KCNB2	9312	broad.mit.edu	37	8	73480030	73480030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:73480030C>T	uc003xzb.3	+	1	649	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	21					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)			ACTTTCCCTTCCTCCAGAGCC	0.522000														70			14		0	0	0.001855	0	0
KCNH2	3757	broad.mit.edu	37	7	150648678	150648678	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:150648678G>A	uc003wic.3	-	6	2204	c.1803C>T	c.(1801-1803)ggC>ggT	p.G601G	KCNH2_uc003wib.3_Silent_p.G261G|KCNH2_uc011kux.2_Silent_p.G505G|KCNH2_uc003wid.3_Silent_p.G261G|KCNH2_uc003wie.3_Silent_p.G601G	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	601			G -> S (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGCCGCCCAGGCCGCTGCTGT	0.607000														58			26		0	0	0.005443	0	0
SRCAP	10847	broad.mit.edu	37	16	30740881	30740881	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:30740881C>T	uc002dze.1	+	26	6500	c.6115C>T	c.(6115-6117)Cag>Tag	p.Q2039*	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Nonsense_Mutation_p.Q1834*	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2039					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)			AAGACTCATCCAGTATGATTG	0.493000														120			15		0	0	0.003163	0	0
HERC1	8925	broad.mit.edu	37	15	64067493	64067493	+	Silent	SNP	G	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:64067493G>C	uc002amp.3	-	1	478	c.330C>G	c.(328-330)ctC>ctG	p.L110L	HERC1_uc010uil.1_Silent_p.L110L|HERC1_uc010bgt.1_Silent_p.L110L|HERC1_uc002amq.1_Silent_p.L110L	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.	110					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity	p.V109V(2)		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						AGACACGCTGGAGTACAAGCA	0.473000														51			40		0	0	0.001287	0	0
FAM46C	54855	broad.mit.edu	37	1	118166458	118166458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:118166458G>A	uc021osq.1	+	0	968	c.968G>A	c.(967-969)gGg>gAg	p.G323E	FAM46C_uc001ehe.3_Missense_Mutation_p.G323E	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	323										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TGTCTCATGGGGCATGAACGC	0.537000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				43			7		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9067464	9067464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:9067464C>T	uc002mkp.3	-	2	20186	c.19982G>A	c.(19981-19983)gGa>gAa	p.G6661E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6663	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						GGTGCTGGTTCCCTTCAGCCC	0.512000														73			18		0	0	0.006122	0	0
LRTM1	57408	broad.mit.edu	37	3	54959205	54959205	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:54959205G>A	uc003dhl.3	-	1	179	c.45C>T	c.(43-45)ctC>ctT	p.L15L	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	15						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ATACCACCTGGAGCAGGACAA	0.473000														53			7		0	0	0.003080	0	0
APOL3	80833	broad.mit.edu	37	22	36537945	36537945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:36537945C>T	uc003aot.3	-	2	550	c.512G>A	c.(511-513)cGt>cAt	p.R171H	APOL3_uc003aoq.3_Missense_Mutation_p.R100H|APOL3_uc003aor.3_Missense_Mutation_p.R100H|APOL3_uc003aos.3_Missense_Mutation_p.R100H|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR|APOL3_uc021wol.1_5'Flank	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	171					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCAAGGGCACGAAGCTTTTC	0.498000														74			31		0	0	0.002836	0	0
KATNB1	10300	broad.mit.edu	37	16	57789407	57789407	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:57789407G>A	uc002eml.1	+	16	1940	c.1566_splice	c.e16+1	p.K522_splice		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	522	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CGACATCAAGGCAAGTGCCCA	0.647000														70			14		0	0	0.001855	0	0
TLN1	7094	broad.mit.edu	37	9	35699385	35699385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:35699385G>A	uc003zxt.2	-	50	7196	c.6842C>T	c.(6841-6843)aCt>aTt	p.T2281I		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	2281					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)			GATGAGCTCAGTGACGGAACC	0.567000														44			16		0	0	0.001523	0	0
RYR1	6261	broad.mit.edu	37	19	38981316	38981316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:38981316C>T	uc002oit.3	+	36	6201	c.6071C>T	c.(6070-6072)cCt>cTt	p.P2024L	RYR1_uc002oiu.3_Missense_Mutation_p.P2024L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2024	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTCCTCTCCCTGAAGAGATT	0.463000														35			9		0	0	0.004482	0	0
NDST3	9348	broad.mit.edu	37	4	118975844	118975844	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:118975844A>C	uc003ibx.3	+	1	1182	c.779A>C	c.(778-780)gAc>gCc	p.D260A	NDST3_uc011cgf.1_Missense_Mutation_p.D260A|NDST3_uc003ibw.3_Missense_Mutation_p.D260A	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	260	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATTATACATGACCTGGGGCTT	0.403000														95			17		0	0	0.006122	0	0
CWH43	80157	broad.mit.edu	37	4	49063906	49063906	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:49063906G>A	uc003gyv.3	+	15	2281	c.2099G>A	c.(2098-2100)tGa>tAa	p.*700*	CWH43_uc011bzl.2_Silent_p.*673*	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	0					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TACTTTTTATGAAACATTTAA	0.254000														19			6		0	0	0.001984	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659245	121659245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:121659245G>A	uc003eep.2	+	20	2076	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	SLC15A2_uc011bjn.1_Missense_Mutation_p.M610I	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	641					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCTCTAGCATGAAATCTGTGC	0.498000														50			10		0	0	0.000978	0	0
MSI2	124540	broad.mit.edu	37	17	55335632	55335632	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:55335632G>A	uc002iuz.1	+	4	359	c.186_splice	c.e4-1	p.R62_splice	MSI2_uc010wnm.1_Splice_Site_p.R40_splice|MSI2_uc002iva.3_Splice_Site_p.R58_splice	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	62	RRM 1.					cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCCTTTCAGAGGCTTCGGTTT	0.448000			T	HOXA9	CML									131			61		0	0	0.003610	0	0
STOX1	219736	broad.mit.edu	37	10	70644203	70644203	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:70644203C>T	uc001jos.2	+	2	738	c.651C>T	c.(649-651)tcC>tcT	p.S217S	STOX1_uc001joq.3_Silent_p.S107S|STOX1_uc001jor.3_Silent_p.S217S|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.S107S	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	217						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGCCAGCTTCCATGACATATC	0.483000														51			20		0	0	0.001216	0	0
SLC6A7	6534	broad.mit.edu	37	5	149580710	149580710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:149580710G>A	uc003lrr.3	+	5	1153	c.782G>A	c.(781-783)gGa>gAa	p.G261E		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	261						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CTGGTCCGCGGAGTCACCCTC	0.597000														58			15		0	0	0.003163	0	0
LIFR	3977	broad.mit.edu	37	5	38482697	38482697	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:38482697G>A	uc010ive.1	-	18	2996	c.2664C>T	c.(2662-2664)gtC>gtT	p.V888V	LIFR_uc003jli.2_Silent_p.V888V	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	888					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACCTCACAGACACTCTTTT	0.259000			T	PLAG1	salivary adenoma									83			9		0	0	0.001368	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18817131	18817131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:18817131G>A	uc003zne.4	+	20	3982	c.3830G>A	c.(3829-3831)cGa>cAa	p.R1277Q		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1277						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAAACGTCACGAATGACAGTG	0.448000														7			3		0	0	0.004672	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671894	44671894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:44671894C>T	uc010zxl.1	+	8	1314	c.1238C>T	c.(1237-1239)cCt>cTt	p.P413L	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.P390L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	413					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)	ATGGACCACCCTTATGTCTTC	0.567000														206			55		0	0	0.003610	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18167944	18167944	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:18167944G>A	uc021wbb.1	+	9	2627	c.2190G>A	c.(2188-2190)aaG>aaA	p.K730K	CSRP2BP_uc002wqk.3_Silent_p.K602K|CSRP2BP_uc010zru.2_Silent_p.K601K	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	730	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GCATGGGCAAGGACGTAACCC	0.403000														135			31		0	0	0.002096	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37250023	37250024	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:37250023_37250024CC>TT	uc003onn.3	+	3	630_631	c.484_485CC>TT	c.(484-486)ccc>TTc	p.P162F	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	162						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GCCCATCATCCCCCTCGTTGCC	0.545000														49			9		0	0	0.004672	0	0
UNC93A	54346	broad.mit.edu	37	6	167717444	167717445	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:167717444_167717445CC>TT	uc003qvq.3	+	4	838_839	c.663_664CC>TT	c.(661-666)ttcctc>ttTTtc	p.L222F	UNC93A_uc003qvr.3_Missense_Mutation_p.L180F	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	222						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TAGCTGCGTTCCTCCAACCCAT	0.505000														59			13		0	0	0.004672	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224024	43224024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:43224024C>T	uc002lbe.3	+	9	2066	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	SLC14A2_uc002lbb.3_Missense_Mutation_p.P417L|SLC14A2_uc010dnj.3_Missense_Mutation_p.P417L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	417						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.P417Q(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAACAACCCAGCCATCTTC	0.567000														98			41		0	0	0.001485	0	0
URB2	9816	broad.mit.edu	37	1	229772137	229772138	+	Missense_Mutation	DNP	CC	GT	GT	rs147789751	byFrequency	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:229772137_229772138CC>GT	uc001hts.1	+	3	1913_1914	c.1777_1778CC>GT	c.(1777-1779)cca>GTa	p.P593V	URB2_uc009xfd.1_Missense_Mutation_p.P593V	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	593						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CACCCCAGGCCCAGAGCCAGAG	0.599000														115			18		0	0	0.004672	0	0
MTMR3	8897	broad.mit.edu	37	22	30414048	30414048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:30414048C>T	uc003agv.4	+	15	2135	c.1807C>T	c.(1807-1809)Ccc>Tcc	p.P603S	MTMR3_uc003agu.4_Missense_Mutation_p.P603S|MTMR3_uc003agw.4_Missense_Mutation_p.P603S	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	603					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCCTGATGATCCCCCCCTGAG	0.627000														35			15		0	0	0.004007	0	0
ERBB2	2064	broad.mit.edu	37	17	37884091	37884092	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:37884091_37884092GG>AA	uc002hso.3	+	26	3800_3801	c.3562_3563GG>AA	c.(3562-3564)ggg>AAg	p.G1188K	ERBB2_uc010cwa.3_Missense_Mutation_p.G1173K|ERBB2_uc002hsm.3_Missense_Mutation_p.G1158K|ERBB2_uc002hsp.3_Missense_Mutation_p.G991K|ERBB2_uc010cwb.3_3'UTR|ERBB2_uc010wek.2_Missense_Mutation_p.G912K	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	1188					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G1188W(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	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)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TTTTGCCTTTGGGGGTGCCGTG	0.629000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				55			11		0	0	0.004672	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226577	23226577	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:23226577C>T	uc002dlm.1	+	12	1876	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	579					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	AACAGGCTCCCCCATGTCCAG	0.557000														80			19		0	0	0.000958	0	0
MAP3K4	4216	broad.mit.edu	37	6	161505568	161505568	+	Missense_Mutation	SNP	G	C	C	rs142735217		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:161505568G>C	uc003qtn.3	+	6	2433	c.2291G>C	c.(2290-2292)aGt>aCt	p.S764T	MAP3K4_uc010kkc.1_Missense_Mutation_p.S764T|MAP3K4_uc003qto.3_Missense_Mutation_p.S764T|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.S217T	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	764					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCTACAGGAAGTTTTTTAGAA	0.408000														73			9		0	0	0.000978	0	0
NR3C2	4306	broad.mit.edu	37	4	149356890	149356890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:149356890G>A	uc003ilj.4	-	1	1486	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	NR3C2_uc003ilk.4_Missense_Mutation_p.P375S|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	375	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TCAGTCTTAGGAAAAGGGACC	0.498000														74			15		0	0	0.003163	0	0
ZNF331	55422	broad.mit.edu	37	19	54080951	54080951	+	Silent	SNP	C	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:54080951C>G	uc002qbx.1	+	6	2571	c.1137C>G	c.(1135-1137)ggC>ggG	p.G379G	ZNF331_uc002qby.1_Silent_p.G379G|ZNF331_uc002qbz.1_Silent_p.G379G|ZNF331_uc010eqr.1_Silent_p.G379G|ZNF331_uc002qca.1_Silent_p.G379G|ZNF331_uc021uzg.1_Silent_p.G379G|ZNF331_uc021uzh.1_Silent_p.G379G|ZNF331_uc002qcb.1_Silent_p.G379G|ZNF331_uc002qcc.1_Silent_p.G379G|ZNF331_uc002qcd.1_Silent_p.G379G	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCCACACAGGCGAAACCCCGT	0.493000			T	?	follicular thyroid adenoma									50			5		0	0	0.000602	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583942	145583942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:145583942C>T	uc003zcc.2	+	2	954	c.790C>T	c.(790-792)Cca>Tca	p.P264S	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Missense_Mutation_p.P264S|SLC52A2_uc010mfy.2_Missense_Mutation_p.P264S|SLC52A2_uc011llc.2_Missense_Mutation_p.P176S|SLC52A2_uc003zcd.2_Missense_Mutation_p.P264S	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	264						integral to plasma membrane	receptor activity|riboflavin transporter activity										CACCCCTGGTCCAGACCCTAA	0.647000														39			16		0	0	0.004990	0	0
OSBPL10	114884	broad.mit.edu	37	3	31774767	31774767	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:31774767G>A	uc021wuu.1	-	5	1748	c.1077C>T	c.(1075-1077)acC>acT	p.T359T	OSBPL10_uc003ceu.1_Silent_p.T116T|OSBPL10_uc011axf.2_Silent_p.T295T	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	359					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTGGCTGTGAGGTTTGTTCGT	0.453000														67			10		0	0	0.001368	0	0
MEGF8	1954	broad.mit.edu	37	19	42847656	42847656	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:42847656A>T	uc002otl.4	+	8	2176	c.1541A>T	c.(1540-1542)tAc>tTc	p.Y514F	MEGF8_uc002otm.4_Missense_Mutation_p.Y55F	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	514						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGTGGTCGGTACTCACATGTA	0.637000														45			13		0	0	0.003163	0	0
SNX5	27131	broad.mit.edu	37	20	17934738	17934738	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:17934738G>A	uc002wqc.3	-	3	377	c.291C>T	c.(289-291)ccC>ccT	p.P97P	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Silent_p.P97P|SNX5_uc002wqe.3_5'UTR|SNX5_uc010zrt.1_Silent_p.P97P	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	97	PX.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CATCAAAGTCGGGCTTCGTAG	0.493000														75			21		0	0	0.002299	0	0
NAMPT	10135	broad.mit.edu	37	7	105894856	105894856	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:105894856A>T	uc003vdq.3	-	8	1492	c.1184T>A	c.(1183-1185)tTg>tAg	p.L395*		NM_005746	NP_005737	P43490	NAMPT_HUMAN	Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA.	395					NAD biosynthetic process|cell-cell signaling|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GGAACAATTCAAGAGATCTCT	0.373000														91			18		0	0	0.000958	0	0
ATP5H	10476	broad.mit.edu	37	17	73035134	73035134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:73035134G>A	uc002jmn.1	-	5	443	c.379C>T	c.(379-381)Cca>Tca	p.P127S	KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.3_Intron|ATP5H_uc002jmo.1_Missense_Mutation_p.P103S|Metazoa_SRP_uc021ucv.1_5'Flank	NM_006356	NP_006347	O75947	ATP5H_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d (ATP5H), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	127					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					TGATCAAATGGAATTAAGTTC	0.408000														67			12		0	0	0.001368	0	0
LRRC2	79442	broad.mit.edu	37	3	46586695	46586695	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:46586695G>A	uc010hji.3	-	2	567	c.174C>T	c.(172-174)atC>atT	p.I58I	LRRC2_uc003cpu.4_Silent_p.I58I	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	58								p.R54fs*11(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CAGCCTGGGGGATGCCCTTCC	0.532000														85			22		0	0	0.001882	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047215	46047215	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:46047215C>T	uc002zfp.4	+	0	176	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	43	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GGCCCCCTGCCTGACCCTGGT	0.692000														59			12		0	0	0.001855	0	0
RNF152	220441	broad.mit.edu	37	18	59483414	59483414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:59483414G>A	uc002lih.1	-	1	695	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	RNF152_uc021ula.1_Missense_Mutation_p.P95S	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	95					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCATTGCTGGGAAGTTTGATG	0.647000														38			7		0	0	0.001984	0	0
LCA5L	150082	broad.mit.edu	37	21	40794924	40794924	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:40794924T>C	uc002yxu.3	-	4	1128	c.815A>G	c.(814-816)gAc>gGc	p.D272G	LCA5L_uc002yxv.3_Missense_Mutation_p.D272G|LCA5L_uc021wji.1_Missense_Mutation_p.D134G|LCA5L_uc002yxw.2_Missense_Mutation_p.D272G|LCA5L_uc002yxy.3_Non-coding_Transcript	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	272										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				GTCATTTGCGTCCATTTTTGT	0.378000														81			15		0	0	0.001216	0	0
RNF165	494470	broad.mit.edu	37	18	44030306	44030306	+	Silent	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:44030306T>C	uc002lcb.1	+	4	714	c.663T>C	c.(661-663)ctT>ctC	p.L221L	RNF165_uc002lby.1_Silent_p.L154L|RNF165_uc010dnn.1_Silent_p.L17L	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	221							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TTCACTTCCTTGCTCTCCAGG	0.517000														44			13		0	0	0.002450	0	0
C7orf26	79034	broad.mit.edu	37	7	6631409	6631409	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:6631409A>T	uc003sqo.1	+	1	325	c.325A>T	c.(325-327)Agc>Tgc	p.S109C	DQ579268_uc021zzi.1_5'Flank|C7orf26_uc003sqp.1_Missense_Mutation_p.S90C	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	109										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		AGCCGATGACAGCCGGATGAG	0.502000														127			22		0	0	0.001882	0	0
AKAP6	9472	broad.mit.edu	37	14	33014795	33014795	+	Silent	SNP	T	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:33014795T>A	uc001wrq.3	+	3	1106	c.936T>A	c.(934-936)gcT>gcA	p.A312A	AKAP6_uc010aml.3_Silent_p.A309A	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	312					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGACAATGCTTCTGCAGTCG	0.493000														59			15		0	0	0.003163	0	0
ZMYND15	84225	broad.mit.edu	37	17	4648217	4648217	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:4648217G>A	uc002fyu.2	+	10	1944	c.1914G>A	c.(1912-1914)cgG>cgA	p.R638R	ZMYND15_uc002fyv.2_Silent_p.R630R|ZMYND15_uc002fyt.2_Silent_p.R591R	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	591							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTCTGCCCCGGTTACAGGTGG	0.582000														121			20		0	0	0.002299	0	0
FAM49A	81553	broad.mit.edu	37	2	16740826	16740826	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:16740826C>G	uc010exm.2	-	8	887	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	FAM49A_uc002rck.2_Missense_Mutation_p.E247Q	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	247						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATCAGGGTCTCTTCACTCGTA	0.502000														76			21		0	0	0.001523	0	0
COL10A1	1300	broad.mit.edu	37	6	116442033	116442033	+	Missense_Mutation	SNP	C	T	T	rs138141648		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:116442033C>T	uc003pwm.3	-	2	1342	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	416	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCAGGAGGTCCTCCAACTCCA	0.592000														55			19		0	0	0.001523	0	0
WDR20	91833	broad.mit.edu	37	14	102675407	102675408	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:102675407_102675408CC>TT	uc010txu.2	+	3	1065_1066	c.993_994CC>TT	c.(991-996)ggccac>ggTTac	p.H332Y	WDR20_uc001ylf.3_Missense_Mutation_p.H313Y|WDR20_uc001ykz.3_Missense_Mutation_p.H301Y|WDR20_uc001yky.2_Missense_Mutation_p.H44Y|WDR20_uc001yla.3_3'UTR|WDR20_uc001ylb.3_Missense_Mutation_p.H240Y|WDR20_uc001ylc.3_Intron|WDR20_uc001yle.3_Missense_Mutation_p.H240Y|WDR20_uc001yld.3_Missense_Mutation_p.H301Y	NM_001242417	NP_001229346	Q8TBZ3	WDR20_HUMAN	Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA.	301										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TAGCCAGAGGCCACGGGCACAA	0.540000														43			7		0	0	0.004672	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606442	31606442	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:31606442G>A	uc002wyj.3	+	9	864	c.670_splice	c.e9-1	p.A224_splice		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	224						extracellular region	lipid binding										CACCCCTACAGGCTGTTCTCT	0.632000														137			28		0	0	0.001271	0	0
ALOX15B	247	broad.mit.edu	37	17	7951740	7951740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:7951740G>A	uc002gju.3	+	13	2004	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	ALOX15B_uc002gjv.3_Missense_Mutation_p.E601K|ALOX15B_uc002gjw.3_Missense_Mutation_p.E556K|ALOX15B_uc010vun.2_Missense_Mutation_p.E618K|ALOX15B_uc010cnp.3_Missense_Mutation_p.E436K	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	630	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCACTTCACAGAGGAGGCCCC	0.662000														40			17		0	0	0.004007	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470460	470460	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:470460C>T	uc002wdw.1	-	9	1080	c.687G>A	c.(685-687)aaG>aaA	p.K229K	CSNK2A1_uc002wdx.1_Silent_p.K229K|CSNK2A1_uc002wdy.1_Silent_p.K93K	NM_177559	NP_808228	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	229	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			AAAATGGCTCCTTCCGAAAGA	0.378000														44			7		0	0	0.000673	0	0
FSD2	123722	broad.mit.edu	37	15	83447578	83447578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:83447578C>T	uc002bjd.2	-	5	1218	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	FSD2_uc010uol.1_Missense_Mutation_p.D351N|FSD2_uc010uom.1_Missense_Mutation_p.D351N	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	351										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AAGGTCTGGTCTTCAAACTCA	0.478000														18			27		0	0	0.001061	0	0
SDK1	221935	broad.mit.edu	37	7	4091420	4091420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:4091420G>A	uc003smx.3	+	18	3008	c.2869G>A	c.(2869-2871)Ggg>Agg	p.G957R	SDK1_uc010kso.3_Missense_Mutation_p.G233R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	957	Fibronectin type-III 3.				cell adhesion	integral to membrane		p.D956D(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCTGGGGACGGGCCTCCCAG	0.532000														132			28		0	0	0.002096	0	0
EVPL	2125	broad.mit.edu	37	17	74004837	74004837	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:74004837C>T	uc010wss.1	-	21	4743	c.4515G>A	c.(4513-4515)tgG>tgA	p.W1505*	EVPL_uc002jqi.2_Nonsense_Mutation_p.W1483*|EVPL_uc010wst.1_Nonsense_Mutation_p.W953*	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1483	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.V1504V(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCCAGGTCCCACCGCAGGG	0.587000														121			29		0	0	0.001271	0	0
GBP6	163351	broad.mit.edu	37	1	89834181	89834181	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:89834181A>G	uc001dnf.2	+	1	345	c.71A>G	c.(70-72)aAc>aGc	p.N24S	GBP6_uc010ost.1_Intron	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	24							GTP binding|GTPase activity	p.V23L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CTATTGGTGAACCAGCAAGCT	0.483000														95			21		0	0	0.002299	0	0
LRCH4	4034	broad.mit.edu	37	7	100173348	100173348	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:100173348G>C	uc003uvj.3	-	16	1887	c.1834C>G	c.(1834-1836)Cga>Gga	p.R612G	SAP25_uc003uvh.3_5'Flank|SAP25_uc022aip.1_5'Flank|LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_Missense_Mutation_p.R139G	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	612	CH.				nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCATTTTTCGACAGGCTTCT	0.542000														242			6		0	0	0.003080	0	0
NUP93	9688	broad.mit.edu	37	16	56868113	56868113	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:56868113G>A	uc002eka.3	+	13	1732	c.1611G>A	c.(1609-1611)cgG>cgA	p.R537R	NUP93_uc002ekb.3_Silent_p.R414R|NUP93_uc010vhi.2_Silent_p.R414R	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	537					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGTACACCCGGAAGTTTGAGT	0.532000														101			41		0	0	0.003214	0	0
RPE65	6121	broad.mit.edu	37	1	68905297	68905297	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:68905297C>T	uc001dei.1	-	6	726	c.672G>A	c.(670-672)gaG>gaA	p.E224E		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	224					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GTACAACGATCTCTGACTTGC	0.363000														61			16		0	0	0.001216	0	0
ABCB1	5243	broad.mit.edu	37	7	87196208	87196208	+	Silent	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:87196208T>C	uc003uiz.2	-	6	916	c.423A>G	c.(421-423)ggA>ggG	p.G141G	ABCB1_uc011khc.2_Intron	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	141	ABC transmembrane type-1 1.				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	p.G141*(1)		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)	GTATTTGTCTTCCAGCTGCCA	0.433000														47			16		0	0	0.004007	0	0
NSDHL	50814	broad.mit.edu	37	X	152037544	152037544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:152037544C>T	uc004fgt.1	+	8	1267	c.1006C>T	c.(1006-1008)Cac>Tac	p.H336Y	NSDHL_uc004fgs.1_Missense_Mutation_p.H336Y	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	336					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TGGCACATTCCACTACTACAG	0.587000														18			8		0	0	0.003080	0	0
BTN1A1	696	broad.mit.edu	37	6	26506979	26506979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:26506979C>T	uc003nif.4	+	3	835	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	260						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCTAGGACTTCTCACCATTGG	0.453000														212			55		0	0	0.003610	0	0
CDK18	5129	broad.mit.edu	37	1	205492424	205492424	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:205492424G>A	uc001hcr.3	+	2	392	c.130_splice	c.e2+1	p.N44_splice	CDK18_uc009xbk.2_Intron|CDK18_uc009xbl.2_Splice_Site|CDK18_uc010pri.2_Missense_Mutation_p.R2K|CDK18_uc001hcp.3_Splice_Site_p.N44_splice|CDK18_uc001hcq.3_Splice_Site_p.N44_splice|CDK18_uc010prj.2_5'UTR|CDK18_uc001hcs.3_5'UTR|CDK18_uc009xbm.1_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	42							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GGCGGAATGAGAGTGAGGGGT	0.622000														38			9		0	0	0.000443	0	0
ELFN2	114794	broad.mit.edu	37	22	37771307	37771307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:37771307C>T	uc003asq.4	-	2	1054	c.268G>A	c.(268-270)Gag>Aag	p.E90K	ELFN2_uc021wph.1_Missense_Mutation_p.E90K	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	90						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TAGGAGATCTCGTTCTTGGTG	0.597000														64			29		0	0	0.001061	0	0
UBXN1	51035	broad.mit.edu	37	11	62445872	62445872	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:62445872A>T	uc001nuj.3	-	3	361	c.229T>A	c.(229-231)Tct>Act	p.S77T	UBXN1_uc001nul.2_Missense_Mutation_p.S77T|UBXN1_uc001nuk.3_Missense_Mutation_p.S42T|UBXN1_uc010rme.1_Missense_Mutation_p.S77T|UBXN1_uc010rmf.2_Missense_Mutation_p.S77T	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	Homo sapiens UBX domain protein 1 (UBXN1), mRNA.	77	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						CCGGCAGCAGAACCAGATCCT	0.473000														81			17		0	0	0.000958	0	0
EYA2	2139	broad.mit.edu	37	20	45633718	45633718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:45633718C>T	uc002xsm.3	+	3	667	c.293C>T	c.(292-294)tCc>tTc	p.S98F	EYA2_uc010ghp.3_Missense_Mutation_p.S98F|EYA2_uc002xsq.3_Missense_Mutation_p.S98F	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	98					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GGAATCCCTTCCTACAGTGAG	0.512000														71			18		0	0	0.000958	0	0
ST14	6768	broad.mit.edu	37	11	130079580	130079580	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:130079580C>T	uc001qfw.3	+	18	2623	c.2430C>T	c.(2428-2430)tcC>tcT	p.S810S		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	810	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GACCCCTGTCCAGCGTGGAGG	0.711000														24			6		0	0	0.001984	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176769418	176769418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:176769418C>T	uc003fiw.4	-	4	561	c.301G>A	c.(301-303)Gat>Aat	p.D101N	TBL1XR1_uc003fix.4_Missense_Mutation_p.D101N|TBL1XR1_uc011bpz.2_5'UTR|TBL1XR1_uc003fiy.2_Missense_Mutation_p.D101N	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	Homo sapiens transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1), mRNA.	101					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GCAAGCTTATCTCTATAAGCT	0.488000														64			14		0	0	0.001855	0	0
PLA2G6	8398	broad.mit.edu	37	22	38541618	38541618	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:38541618G>A	uc003auy.1	-	2	388	c.252C>T	c.(250-252)ttC>ttT	p.F84F	PLA2G6_uc003auz.1_Silent_p.F84F|PLA2G6_uc003ava.1_Silent_p.F84F|PLA2G6_uc003avb.2_Silent_p.F84F|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Silent_p.F84F	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	84					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AATACTGATGGAAATTCACTA	0.577000														50			9		0	0	0.000978	0	0
DDX4	54514	broad.mit.edu	37	5	55088625	55088625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:55088625G>A	uc003jqg.4	+	16	1558	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	DDX4_uc010ivz.3_Missense_Mutation_p.E467K|DDX4_uc003jqh.4_Missense_Mutation_p.E453K|DDX4_uc003jqj.3_Missense_Mutation_p.E338K	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	487	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTCCAGAGGAAATTCAAAG	0.318000														23			6		0	0	0.001168	0	0
DDC	1644	broad.mit.edu	37	7	50571701	50571701	+	Silent	SNP	G	A	A	rs117436059	byFrequency	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:50571701G>A	uc003tpg.4	-	6	972	c.771C>T	c.(769-771)gtC>gtT	p.V257V	DDC_uc022ade.1_Silent_p.V179V|DDC_uc003tpf.4_Silent_p.V257V|DDC_uc022adb.1_Silent_p.V219V|DDC_uc022adc.1_Silent_p.V209V|DDC_uc022add.1_Silent_p.V164V|DDC_uc022adf.1_Silent_p.V257V	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	257					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AGATAGGACCGACTTCTAAGA	0.453000														62			27		0	0	0.002445	0	0
BTBD16	118663	broad.mit.edu	37	10	124094415	124094415	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:124094415A>C	uc001lgc.1	+	13	1435	c.1184A>C	c.(1183-1185)aAa>aCa	p.K395T	BTBD16_uc001lgd.1_Missense_Mutation_p.K394T	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	395										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ACTTATTCGAAAACGATTGCT	0.373000														96			10		0	0	0.001368	0	0
CCDC88C	440193	broad.mit.edu	37	14	91749693	91749693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:91749693C>T	uc010aty.3	-	25	4764	c.4610G>A	c.(4609-4611)cGg>cAg	p.R1537Q	CCDC88C_uc001xzj.3_Missense_Mutation_p.R61Q|CCDC88C_uc001xzi.3_5'UTR	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1537					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)				GCCTGGGTGCCGGGCGATGGG	0.637000														23			7		0	0	0.003080	0	0
ZFP42	132625	broad.mit.edu	37	4	188924380	188924380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:188924380C>T	uc003izh.1	+	3	827	c.419C>T	c.(418-420)tCg>tTg	p.S140L	ZFP42_uc003izi.1_Missense_Mutation_p.S140L|ZFP42_uc021xvm.1_Missense_Mutation_p.S140L	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	140					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)		GGAGAGAATTCGCTTGAGTAT	0.423000														96			16		0	0	0.004007	0	0
SNRNP200	23020	broad.mit.edu	37	2	96944041	96944041	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:96944041G>A	uc002svu.3	-	38	5676	c.5544C>T	c.(5542-5544)atC>atT	p.I1848I	SNRNP200_uc002svt.3_Silent_p.I458I|SNRNP200_uc010yuj.2_Non-coding_Transcript	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1848	SEC63 2.					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						CATTGGAGATGATCTCGATAA	0.507000														66			20		0	0	0.001216	0	0
MYH14	79784	broad.mit.edu	37	19	50794224	50794224	+	Silent	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:50794224A>G	uc010enu.1	+	35	5093	c.5046A>G	c.(5044-5046)ggA>ggG	p.G1682G	MYH14_uc002prq.1_Silent_p.G1649G|MYH14_uc002prr.1_Silent_p.G1641G|MYH14_uc010ycb.2_5'UTR|MYH14_uc002prs.1_5'UTR	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1641					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCTGGAGGGAGAGCTGGAGG	0.647000														7			3		0	0	0.004672	0	0
CXCR6	10663	broad.mit.edu	37	3	45988910	45988911	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:45988910_45988911GG>AA	uc003cpc.1	+	1	1018_1019	c.937_938GG>AA	c.(937-939)ggg>AAg	p.G313K	FYCO1_uc003cpb.4_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Missense_Mutation_p.G313K|CXCR6_uc021www.1_Missense_Mutation_p.G313K	NM_006564	NP_006555	O00574	CXCR6_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 6 (CXCR6), mRNA.	313					viral genome replication	integral to plasma membrane	coreceptor activity	p.L312F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCTTACCTTGGGGTCTCACAT	0.490000														63			19		0	0	0.004672	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140710501	140710501	+	Silent	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140710501T>C	uc003lji.2	+	0	250	c.250T>C	c.(250-252)Ttg>Ctg	p.L84L	PCDHGC5_uc011dan.2_Silent_p.L84L	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	84	Cadherin 1.				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)			AAGTGGCAGCTTGATCACCGC	0.552000														151			34		0	0	0.002836	0	0
NRCAM	4897	broad.mit.edu	37	7	107834800	107834800	+	Silent	SNP	A	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:107834800A>T	uc022aka.1	-	12	1642	c.1536T>A	c.(1534-1536)atT>atA	p.I512I	NRCAM_uc011kmk.2_Silent_p.I512I|NRCAM_uc003vfd.3_Silent_p.I493I|NRCAM_uc003vfe.3_Silent_p.I493I|NRCAM_uc003vfc.3_Silent_p.I506I	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	512	Ig-like 5.			I -> IKDATWIVKEI (in Ref. 1; AAC50765).	angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGGCCACAGGAATTTCCAAAG	0.358000														64			35		0	0	0.002836	0	0
CSMD1	64478	broad.mit.edu	37	8	3200828	3200828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:3200828G>A	uc022aqr.1	-	22	4009	c.3619C>T	c.(3619-3621)Ctc>Ttc	p.L1207F	CSMD1_uc011kwj.2_Missense_Mutation_p.L600F|CSMD1_uc003wqe.3_Missense_Mutation_p.L364F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1208	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTATAGGTGAGTTGAAAACCT	0.373000														64			14		0	0	0.002450	0	0
STK11IP	114790	broad.mit.edu	37	2	220480795	220480795	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:220480795C>T	uc002vml.3	+	24	3223	c.3180C>T	c.(3178-3180)ctC>ctT	p.L1060L		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	1060					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGGGCACTCCGTGTGGTGT	0.612000														36			9		0	0	0.000978	0	0
VGLL3	389136	broad.mit.edu	37	3	87039870	87039870	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:87039870A>T	uc003dqn.3	-	0	388	c.24T>A	c.(22-24)taT>taA	p.Y8*		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGGGGTGATACATCACCT	0.716000														19			11		0	0	0.000978	0	0
ZRANB3	84083	broad.mit.edu	37	2	135966509	135966509	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:135966509G>A	uc002tum.3	-	17	2652	c.2535C>T	c.(2533-2535)gaC>gaT	p.D845D	ZRANB3_uc002tuk.3_Silent_p.D388D|ZRANB3_uc002tul.3_Silent_p.D843D	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	845						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TCTTCACTTTGTCCATTGAGG	0.383000														88			14		0	0	0.006122	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707732	26707732	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:26707732A>G	uc003acb.3	+	8	1878	c.1682_splice	c.e8-2	p.A561_splice	SEZ6L_uc003acd.3_Splice_Site_p.A561_splice|SEZ6L_uc011akd.2_Splice_Site_p.A561_splice|SEZ6L_uc003ace.3_Splice_Site_p.A561_splice|SEZ6L_uc011akc.2_Splice_Site_p.A561_splice|SEZ6L_uc003acc.3_Splice_Site_p.A561_splice|SEZ6L_uc003acf.1_Splice_Site_p.A334_splice|SEZ6L_uc010gvc.1_Splice_Site_p.A334_splice	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	561	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCCTTCCTCAGCGTTTGAGA	0.502000														163			87		0	0	0.003610	0	0
ZNF28	7576	broad.mit.edu	37	19	53303297	53303297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:53303297G>A	uc002qad.3	-	3	1958	c.1801C>T	c.(1801-1803)Cat>Tat	p.H601Y	ZNF28_uc002qac.3_Missense_Mutation_p.H547Y|ZNF28_uc010eqe.3_Missense_Mutation_p.H547Y|ZNF28_uc021uza.1_Missense_Mutation_p.H548Y	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCTCCAGTATGAACTCTCTGA	0.448000														134			22		0	0	0.001061	0	0
MRPL41	64975	broad.mit.edu	37	9	140446788	140446788	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:140446788C>T	uc022bqj.1	+	0	255	c.255C>T	c.(253-255)ccC>ccT	p.P85P	PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank|MRPL41_uc004cnh.4_Silent_p.P85P	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN	Homo sapiens mitochondrial ribosomal protein L41 (MRPL41), nuclear gene encoding mitochondrial protein, mRNA.	85					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		AGGAGACGCCCCTGACGGCCG	0.612000														22			7		0	0	0.001984	0	0
MXRA5	25878	broad.mit.edu	37	X	3242045	3242045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:3242045C>T	uc004crg.4	-	4	1838	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	561	Ig-like C2-type 1.					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)				TCCATTTCATCCCTCACTTGA	0.532000														7			4		0	0	0.000248	0	0
ASIC5	51802	broad.mit.edu	37	4	156775308	156775308	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:156775308A>C	uc003ipe.1	-	2	553	c.506T>G	c.(505-507)tTt>tGt	p.F169C		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	169						integral to membrane|plasma membrane											GTTCCTGATAAATTCCACAAT	0.393000														62			10		0	0	0.000443	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448463	89448464	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:89448463_89448464GG>AA	uc021opo.1	-	0	1046_1047	c.1046_1047CC>TT	c.(1045-1047)ccc>cTT	p.P349L	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.P349L|RBMXL1_uc001dms.3_Missense_Mutation_p.P349L	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	349	Ser-rich.						RNA binding|nucleotide binding										CTACAGAAGGGGGAAGCCCTCT	0.530000														165			26		0	0	0.004672	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4444801	4444801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:4444801G>A	uc002fxz.4	-	23	3316	c.3254C>T	c.(3253-3255)tCc>tTc	p.S1085F	MYBBP1A_uc002fyb.4_Missense_Mutation_p.S1085F|MYBBP1A_uc002fya.4_Missense_Mutation_p.S30F|MYBBP1A_uc010vsa.2_Missense_Mutation_p.S127F	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1085					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CAGCTCCAGGGAGGACAGTGC	0.657000														105			12		0	0	0.001855	0	0
MEGF11	84465	broad.mit.edu	37	15	66215178	66215179	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:66215178_66215179CC>GT	uc002apm.2	-	13	1945_1946	c.1804_1805GG>AC	c.(1804-1806)gga>ACa	p.G602T	MEGF11_uc002apl.2_Missense_Mutation_p.G527T|MEGF11_uc002apn.1_Missense_Mutation_p.G602T	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	602	EGF-like 10.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GCATAAGGGTCCTCGGAAGCCA	0.614000														43			11		0	0	0.004672	0	0
CD163	9332	broad.mit.edu	37	12	7635291	7635291	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:7635291G>A	uc001qsz.3	-	13	3323	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_uc001qta.3_Silent_p.F1065F|CD163_uc009zfw.2_Silent_p.F1098F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1065					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						ATAATGCGACGAAAATGGCCA	0.423000														102			28		0	0	0.001271	0	0
C1orf94	84970	broad.mit.edu	37	1	34663168	34663168	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:34663168G>A	uc001bxt.3	+	1	1501	c.663G>A	c.(661-663)ggG>ggA	p.G221G	C1orf94_uc001bxs.4_Silent_p.G31G	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	31							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCAGCAAGGGGACAGAGGACA	0.567000														51			19		0	0	0.000958	0	0
TTC7A	57217	broad.mit.edu	37	2	47177586	47177586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:47177586C>T	uc010fbb.3	+	1	637	c.269C>T	c.(268-270)cCt>cTt	p.P90L	TTC7A_uc002rvm.3_Missense_Mutation_p.P56L|TTC7A_uc002rvn.1_5'UTR|TTC7A_uc002rvo.3_Missense_Mutation_p.P90L|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	90							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GACTCCATGCCTTTGCTGGAG	0.473000														68			24		0	0	0.002780	0	0
CELSR3	1951	broad.mit.edu	37	3	48692803	48692803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:48692803G>A	uc003cuf.1	-	6	4976	c.4976C>T	c.(4975-4977)cCc>cTc	p.P1659L	CELSR3_uc003cul.3_Missense_Mutation_p.P1589L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1589	Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAACTGTGGGGCTGACCAC	0.572000														52			9		0	0	0.001368	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530696	110530696	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:110530696T>C	uc003yne.3	+	72	12094	c.11990T>C	c.(11989-11991)aTt>aCt	p.I3997T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3997					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAATAGAGATTGGAGACCCT	0.388000										HNSCC(38;0.096)				34			8		0	0	0.000443	0	0
OR52E6	390078	broad.mit.edu	37	11	5862614	5862614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:5862614C>T	uc010qzq.2	-	0	514	c.514G>A	c.(514-516)Gga>Aga	p.G172R	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATACGATGTCCACAGAAGGGC	0.488000														98			12		0	0	0.000978	0	0
NUP155	9631	broad.mit.edu	37	5	37318090	37318090	+	Splice_Site	SNP	C	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:37318090C>A	uc003jku.1	-	21	2423	c.2305_splice	c.e21+1	p.E769_splice	NUP155_uc003jkt.1_Splice_Site_p.E710_splice|NUP155_uc010iuz.1_Splice_Site_p.E769_splice	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	769					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATAATTTACCATGAAACTTC	0.383000														182			6		0.00198382	0.00422978	0.001984	1	0
ADAM22	53616	broad.mit.edu	37	7	87746124	87746124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:87746124C>T	uc003ujn.3	+	6	817	c.602C>T	c.(601-603)cCa>cTa	p.P201L	ADAM22_uc003uji.2_Missense_Mutation_p.P200L|ADAM22_uc003ujj.2_Missense_Mutation_p.P201L|ADAM22_uc003ujk.2_Missense_Mutation_p.P201L|ADAM22_uc003ujl.2_Missense_Mutation_p.P201L|ADAM22_uc003ujm.3_Missense_Mutation_p.P201L|ADAM22_uc003ujo.3_Missense_Mutation_p.P201L|ADAM22_uc003ujp.1_Missense_Mutation_p.P253L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	201					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GATGATCTTCCATCTGGTATG	0.318000														32			7		0	0	0.001984	0	0
TRIM26	7726	broad.mit.edu	37	6	30164463	30164463	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:30164463G>A	uc003npr.3	-	4	804	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	TRIM26_uc003nps.3_Silent_p.L199L|TRIM26_uc003npt.3_Silent_p.L199L|TRIM26_uc010jry.3_5'UTR	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	199							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CGCTCCCTCAGGAACTGATGA	0.622000														24			7		0	0	0.000443	0	0
NUP205	23165	broad.mit.edu	37	7	135328088	135328088	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:135328088C>T	uc003vsw.3	+	38	5572	c.5541C>T	c.(5539-5541)ccC>ccT	p.P1847P		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1847					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGCAGCTTCCCCCAGATGAGA	0.423000														40			7		0	0	0.001984	0	0
IGSF10	285313	broad.mit.edu	37	3	151161558	151161558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:151161558G>A	uc011bod.2	-	4	5177	c.5177C>T	c.(5176-5178)tCc>tTc	p.S1726F	IGSF10_uc011bob.2_5'Flank|IGSF10_uc011boc.2_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1726	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.A1725T(1)		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)			AAACAGATTGGATGCGGAACA	0.512000														41			6		0	0	0.001168	0	0
RCAN2	10231	broad.mit.edu	37	2	174131184	174131184	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:174131184C>T	uc002uhz.3	+	19	2309	c.2109C>T	c.(2107-2109)tcC>tcT	p.S703S	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GTCAGCATTCCACTCCTTCAA	0.483000														53			12		0	0	0.002450	0	0
COL4A5	1287	broad.mit.edu	37	X	107814658	107814658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:107814658C>T	uc022ccg.1	+	6	602	c.400C>T	c.(400-402)Cca>Tca	p.P134S	COL4A5_uc004enz.1_Missense_Mutation_p.P134S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	134	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACGTGGATTTCCAGGCAGTCC	0.368000									Alport syndrome with Diffuse Leiomyomatosis					84			59		0	0	0.003610	0	0
AP1M2	10053	broad.mit.edu	37	19	10690440	10690440	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:10690440G>A	uc002mpd.3	-	6	858	c.774C>T	c.(772-774)atC>atT	p.I258I	AP1M2_uc002mpc.3_Silent_p.I256I	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	256	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CATCAGGCGGGATGAAGGAGA	0.557000														96			24		0	0	0.003330	0	0
GGA2	23062	broad.mit.edu	37	16	23497377	23497377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:23497377G>A	uc002dlq.3	-	7	840	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	253	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.R253G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CCTGGCCTGCGGTACATGCTC	0.552000														79			23		0	0	0.004656	0	0
CTIF	9811	broad.mit.edu	37	18	46383995	46383995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:46383995C>T	uc002ldd.3	+	11	1929	c.1570C>T	c.(1570-1572)Ctt>Ttt	p.L524F	CTIF_uc002ldc.3_Missense_Mutation_p.L522F|CTIF_uc002lde.4_Missense_Mutation_p.L151F	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	522	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGATGCTGTCCTTTGCTGCTC	0.547000														60			15		0	0	0.000958	0	0
ITPR1	3708	broad.mit.edu	37	3	4810359	4810359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:4810359G>A	uc003bqc.3	+	44	6195	c.5845G>A	c.(5845-5847)Gac>Aac	p.D1949N	ITPR1_uc021wsi.1_Missense_Mutation_p.D1916N|ITPR1_uc021wsj.1_Missense_Mutation_p.D1901N|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1964					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.L1949M(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGCCAAGGACGACCTGGAGAT	0.612000														101			28		0	0	0.003755	0	0
HOXB5	3215	broad.mit.edu	37	17	46669790	46669790	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:46669790G>A	uc002inr.3	-	1	650	c.591C>T	c.(589-591)gcC>gcT	p.A197A	HOXB3_uc010wlm.2_5'Flank|HOXB3_uc010dbf.3_5'Flank|HOXB3_uc010dbg.3_5'Flank|HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron	NM_002147	NP_002138	P09067	HXB5_HUMAN	Homo sapiens homeobox B5 (HOXB5), mRNA.	197						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						ACGCGGTCCGGGCCCTTTTCC	0.627000														32			13		0	0	0.001855	0	0
CASS4	57091	broad.mit.edu	37	20	55033749	55033750	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:55033749_55033750GG>AA	uc002xxp.2	+	6	2532_2533	c.2307_2308GG>AA	c.(2305-2310)gcggag>gcAAag	p.E770K	CASS4_uc010zze.1_Missense_Mutation_p.E716K|CASS4_uc002xxr.2_Missense_Mutation_p.E770K|CASS4_uc010gio.2_Missense_Mutation_p.E333K	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	770					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACCTCCAGGCGGAGGCTGAGAA	0.629000														13			5		0	0	0.004672	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359359	72359359	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:72359359G>A	uc002sih.1	-	5	1536	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	CYP26B1_uc010yra.1_Silent_p.V495V|CYP26B1_uc010yrb.1_Silent_p.V437V	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	512					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TCTTGGGTTAGACTGTGGCGC	0.657000														10			3		0	0	0.000248	0	0
LILRA1	11024	broad.mit.edu	37	19	55106787	55106787	+	Missense_Mutation	SNP	C	T	T	rs151320443		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:55106787C>T	uc002qgh.1	+	4	763	c.581C>T	c.(580-582)tCg>tTg	p.S194L	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.S194L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	194	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.S194S(1)		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)		CGCAGGTGGTCGTACAGGTGC	0.572000														110			36		0	0	0.003755	0	0
PRRC2C	23215	broad.mit.edu	37	1	171557584	171557584	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:171557584C>T	uc010pmg.2	+	32	8399	c.8133C>T	c.(8131-8133)ttC>ttT	p.F2711F	PRRC2C_uc010pmh.2_Silent_p.F1623F|PRRC2C_uc010pmi.2_Silent_p.F548F|PRRC2C_uc010pmj.2_Silent_p.F243F	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2711							protein C-terminus binding										AGAAGCAGTTCCAGTCAGCCC	0.433000														44			13		0	0	0.001368	0	0
STRC	161497	broad.mit.edu	37	15	43893146	43893146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:43893146G>A	uc001zsf.3	-	24	4846	c.4768C>T	c.(4768-4770)Cat>Tat	p.H1590Y	STRC_uc010bdl.3_Missense_Mutation_p.H817Y|STRC_uc001zse.3_Missense_Mutation_p.H108Y	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1590					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTGTCAGATGAACGAAGTCC	0.592000														42			25		0	0	0.004878	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846581	47846581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:47846581C>T	uc011dwm.2	-	2	2033	c.1999G>A	c.(1999-2001)Ggt>Agt	p.G667S	PTCHD4_uc011dwn.2_Missense_Mutation_p.G414S	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	667						integral to membrane	hedgehog receptor activity										AGGAGAACACCAAAGCCTGCA	0.478000														79			16		0	0	0.003163	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756579	54756579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:54756579C>T	uc010yot.1	+	0	221	c.97C>T	c.(97-99)Cac>Tac	p.H33Y	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		GAAAGGTGTCCACGGCCACAA	0.542000														45			8		0	0	0.003080	0	0
ADCY8	114	broad.mit.edu	37	8	131833660	131833660	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:131833660G>A	uc003ytd.4	-	12	2938	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F	ADCY8_uc010mds.3_Silent_p.F763F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	894					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)			TGGTCCCCAGGAAATCTCTGT	0.458000										HNSCC(32;0.087)				36			6		0	0	0.001168	0	0
MEGF8	1954	broad.mit.edu	37	19	42875635	42875635	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:42875635G>A	uc002otl.4	+	40	7703	c.7068_splice	c.e40+1	p.Q2356_splice	MEGF8_uc002otm.4_Splice_Site_p.Q1964_splice|MEGF8_uc002otn.4_Intron	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2423						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAAGTACCAGGTGCGGCTGCA	0.617000														61			10		0	0	0.000978	0	0
ABCC12	94160	broad.mit.edu	37	16	48121875	48121875	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:48121875C>T	uc002efc.1	-	24	3943	c.3597G>A	c.(3595-3597)gtG>gtA	p.V1199V	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1199	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCTGTGGGATCACAGTCAGCT	0.438000														22			9		0	0	0.000443	0	0
ZFP41	286128	broad.mit.edu	37	8	144332051	144332052	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:144332051_144332052CC>TT	uc003yxw.3	+	1	396_397	c.38_39CC>TT	c.(37-39)acc>aTT	p.T13I	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.T13I	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	13					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AAGACGCCGACCCCAAGGGAGG	0.604000														12			6		0	0	0.004672	0	0
DNAH3	55567	broad.mit.edu	37	16	21051177	21051177	+	Missense_Mutation	SNP	C	T	T	rs12927146		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:21051177C>T	uc010vbe.2	-	32	4727	c.4727G>A	c.(4726-4728)aGa>aAa	p.R1576K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1576	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AACACACCTTCTGGAGTCCAG	0.483000														96			23		0	0	0.005443	0	0
LAMA3	3909	broad.mit.edu	37	18	21427576	21427576	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:21427576G>A	uc002kuq.3	+	31	4166	c.4080G>A	c.(4078-4080)agG>agA	p.R1360R	LAMA3_uc002kur.3_Silent_p.R1360R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1360	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGTTCCAGGAGGGGCACCA	0.652000														33			9		0	0	0.000673	0	0
OR51F2	119694	broad.mit.edu	37	11	4843076	4843076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:4843076G>A	uc010qyn.2	+	0	461	c.461G>A	c.(460-462)cGa>cAa	p.R154Q		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	154					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)		ACCAATGCCCGAATTGCCAAG	0.463000														148			51		0	0	0.003610	0	0
IL37	27178	broad.mit.edu	37	2	113675280	113675280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:113675280G>A	uc002tij.3	+	3	376	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	IL37_uc002tim.3_Missense_Mutation_p.G51R|IL37_uc002tik.3_Missense_Mutation_p.G91R|IL37_uc002til.3_Missense_Mutation_p.G72R|IL37_uc002tin.3_Missense_Mutation_p.G86R	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	112					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						GATTCTCCTGGGGGTCTCTAA	0.478000														125			36		0	0	0.003271	0	0
FAM86A	196483	broad.mit.edu	37	16	5140543	5140543	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:5140543G>A	uc002cyo.2	-	4	415	c.366C>T	c.(364-366)ctC>ctT	p.L122L	FAM86A_uc002cyp.2_Silent_p.L88L	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	122										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGCTCTCGGAGAGTGTGACCG	0.602000														61			15		0	0	0.004007	0	0
LRBA	987	broad.mit.edu	37	4	151392883	151392883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:151392883G>A	uc010ipj.3	-	43	6837	c.6593C>T	c.(6592-6594)tCa>tTa	p.S2198L	LRBA_uc003ils.4_Missense_Mutation_p.S88L|LRBA_uc003ilt.4_Missense_Mutation_p.S846L|LRBA_uc003ilu.4_Missense_Mutation_p.S2187L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2198						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACTAGCTAATGAAATACGTCT	0.313000														86			10		0	0	0.000443	0	0
THSD7B	80731	broad.mit.edu	37	2	138421083	138421083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:138421083G>A	uc002tva.1	+	24	4499	c.4499G>A	c.(4498-4500)aGa>aAa	p.R1500K	THSD7B_uc010zbj.1_Non-coding_Transcript	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)		GGGAAAAACAGACCTGTGAAT	0.353000														14			3		0	0	0.004672	0	0
RPL10	6134	broad.mit.edu	37	X	153628212	153628213	+	Missense_Mutation	DNP	AT	TC	TC			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:153628212_153628213AT>TC	uc004fkm.2	+	4	447_448	c.259_260AT>TC	c.(259-261)atc>TCc	p.I87S	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Missense_Mutation_p.I87S|RPL10_uc004fkn.1_Missense_Mutation_p.I87S|RPL10_uc004fkq.1_Non-coding_Transcript|RPL10_uc004fkr.1_Missense_Mutation_p.I12S|SNORA70_uc010nux.1_5'Flank|RPL10_uc022cif.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	87					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCTTCCATATCCGGGTGCGG	0.525000														23			18		0	0	0.004672	0	0
MGAT5B	146664	broad.mit.edu	37	17	74899435	74899435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:74899435C>T	uc002jti.3	+	3	632	c.529C>T	c.(529-531)Cct>Tct	p.P177S	MGAT5B_uc002jth.3_Missense_Mutation_p.P166S	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	166						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCAAGTTCCCTGACTGCTC	0.647000														41			31		0	0	0.002445	0	0
TNPO1	3842	broad.mit.edu	37	5	72192969	72192969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:72192969G>A	uc003kck.4	+	19	2476	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	TNPO1_uc011csj.1_Missense_Mutation_p.E727K|TNPO1_uc003kci.4_Missense_Mutation_p.E769K|TNPO1_uc003kcg.4_Missense_Mutation_p.E769K	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	777					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.E769Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GACGTTGTTAGAGAATACAGG	0.373000														40			10		0	0	0.000673	0	0
TAOK1	57551	broad.mit.edu	37	17	27818848	27818848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:27818848C>T	uc002hdz.2	+	9	990	c.796C>T	c.(796-798)Cct>Tct	p.P266S	TAOK1_uc010wbe.2_Missense_Mutation_p.P266S|TAOK1_uc002heb.1_Missense_Mutation_p.P92S	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	266	Protein kinase.				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)			CCAGAAAATCCCTCAAGATCG	0.333000														105			22		0	0	0.001271	0	0
HR	55806	broad.mit.edu	37	8	21982912	21982912	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:21982912G>A	uc003xas.3	-	4	2327	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	HR_uc003xat.3_Silent_p.L554L	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	554							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTGCTTGGCGAGGCCTGTGC	0.687000														19			6		0	0	0.001984	0	0
DOK2	9046	broad.mit.edu	37	8	21767095	21767096	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:21767095_21767096AG>TA	uc003wzx.1	-	4	1058_1059	c.965_966CT>TA	c.(964-966)cct>cTA	p.P322L	DOK2_uc003wzy.1_Missense_Mutation_p.P322L|DOK2_uc003wzz.1_Missense_Mutation_p.P168L|DOK2_uc010lth.1_Missense_Mutation_p.P168L	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	322	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCAGGAGCTGAGGAGGGACTGC	0.653000														67			17		0	0	0.004672	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45459056	45459056	+	RNA	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:45459056C>T	uc001rol.3	-	0		c.139G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		AATTGGAGTTCGTTTCCTTCC	0.443000														27			7		0	0	0.003080	0	0
DNAH7	56171	broad.mit.edu	37	2	196746545	196746545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:196746545C>T	uc002utj.4	-	35	6036	c.5935G>A	c.(5935-5937)Gga>Aga	p.G1979R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1979	AAA 3 (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						TTCCCAGTTCCTGTTGGTCCT	0.368000														70			13		0	0	0.001855	0	0
AGPAT3	56894	broad.mit.edu	37	21	45400909	45400909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:45400909C>T	uc002zdx.3	+	9	1809	c.1144C>T	c.(1144-1146)Cca>Tca	p.P382S	AGPAT3_uc002zdv.3_Missense_Mutation_p.P295S|AGPAT3_uc002zdw.3_Missense_Mutation_p.P295S|AGPAT3_uc002zdy.3_Missense_Mutation_p.P233S	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	295					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GGGCATGTTTCCAGGGGAGCA	0.507000														93			21		0	0	0.001216	0	0
NCDN	23154	broad.mit.edu	37	1	36030854	36030855	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:36030854_36030855GG>AA	uc001bza.3	+	7	1907_1908	c.1780_1781GG>AA	c.(1780-1782)ggg>AAg	p.G594K	NCDN_uc001bzb.3_Missense_Mutation_p.G594K|NCDN_uc001bzc.3_Missense_Mutation_p.G577K	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	594					neuron projection development	cytosol|dendrite|neuronal cell body		p.R593Q(1)|p.R593R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCATCCCGAGGGTTCTTCGCA	0.614000											OREG0013355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		105			26		0	0	0.004672	0	0
F8	2157	broad.mit.edu	37	X	154124374	154124374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:154124374C>T	uc004fmt.3	-	21	6578	c.6407G>A	c.(6406-6408)gGa>gAa	p.G2136E	F8_uc010nvi.1_3'UTR	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2136	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTGGAATTTCCTCGATAAGT	0.398000														72			32		0	0	0.002836	0	0
EPHB2	2048	broad.mit.edu	37	1	23235527	23235527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:23235527C>T	uc009vqj.1	+	12	2510	c.2365C>T	c.(2365-2367)Ccc>Tcc	p.P789S	EPHB2_uc001bge.3_Missense_Mutation_p.P790S|EPHB2_uc001bgf.3_Missense_Mutation_p.P789S|EPHB2_uc010odu.2_Missense_Mutation_p.P731S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	789	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGGAAAGATCCCCATCCGCTG	0.587000														24			5		0	0	0.001168	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617511	28617511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:28617511G>A	uc002dqn.3	-	9	1506	c.914C>T	c.(913-915)tCc>tTc	p.S305F	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.S214F|SULT1A1_uc002dqi.3_Missense_Mutation_p.S214F|SULT1A1_uc002dqk.3_Missense_Mutation_p.S214F|SULT1A1_uc002dql.3_Missense_Mutation_p.S214F|SULT1A1_uc002dqm.3_Missense_Mutation_p.S136F|SULT1A1_uc002dqp.3_Missense_Mutation_p.S214F	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	214					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CTCTGGCAGGGAGCGCCCCAC	0.547000														63			8		0	0	0.004482	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807904	18807904	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:18807904G>A	uc001bax.3	+	0	481	c.429G>A	c.(427-429)caG>caA	p.Q143Q	KLHDC7A_uc009vpg.3_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	143						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCAGCCAGGAAACCAGAA	0.637000														20			8		0	0	0.003080	0	0
F13A1	2162	broad.mit.edu	37	6	6305714	6305714	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:6305714C>T	uc003mwv.3	-	2	312	c.189G>A	c.(187-189)gtG>gtA	p.V63V	F13A1_uc011dib.2_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	63					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.V63L(1)|p.K62_V63>NL(1)|p.K62N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGTGGTGGTCCACCTTGTTAG	0.428000														37			9		0	0	0.000673	0	0
TP63	8626	broad.mit.edu	37	3	189582062	189582062	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:189582062G>A	uc003fry.2	+	4	710	c.621G>A	c.(619-621)aaG>aaA	p.K207K	TP63_uc003frx.2_Silent_p.K207K|TP63_uc003frz.2_Silent_p.K207K|TP63_uc010hzc.1_Silent_p.K207K|TP63_uc003fsa.2_Silent_p.K113K|TP63_uc003fsb.2_Silent_p.K113K|TP63_uc003fsc.2_Silent_p.K113K|TP63_uc003fsd.2_Silent_p.K113K|TP63_uc021xir.1_Silent_p.K113K|TP63_uc010hzd.1_Silent_p.K28K|TP63_uc003fse.1_Silent_p.K88K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	207					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AAATTGCAAAGACATGCCCCA	0.502000										HNSCC(45;0.13)				147			25		0	0	0.002780	0	0
GABRG3	2567	broad.mit.edu	37	15	27574022	27574022	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:27574022G>A	uc001zbg.2	+	4	815	c.561G>A	c.(559-561)ctG>ctA	p.L187L	GABRG3_uc001zbf.3_Silent_p.L187L	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	187					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCTGCCCGCTGATTTTCTCCA	0.542000														15			11		0	0	0.001368	0	0
TRIP11	9321	broad.mit.edu	37	14	92471846	92471846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:92471846G>A	uc001xzy.3	-	10	2848	c.2474C>T	c.(2473-2475)tCa>tTa	p.S825L	TRIP11_uc010auf.2_Missense_Mutation_p.S561L	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	825					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTGCAGCTTTGAACTTCTTTC	0.338000			T	PDGFRB	AML									53			21		0	0	0.001523	0	0
FAM129A	116496	broad.mit.edu	37	1	184764971	184764972	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:184764971_184764972GG>AA	uc001gra.3	-	13	2120_2121	c.1926_1927CC>TT	c.(1924-1929)ctccct>ctTTct	p.P643S	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	643					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTTGGCCCAGGGAGAGAAAGGC	0.550000														80			16		0	0	0.004672	0	0
C12orf51	283450	broad.mit.edu	37	12	112608926	112608926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:112608926G>A	uc021reb.1	-	67	11921	c.11525C>T	c.(11524-11526)gCc>gTc	p.A3842V		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTGACCTTTGGCCTCCTTCAG	0.637000														20			4		0	0	0.000248	0	0
LRTM1	57408	broad.mit.edu	37	3	54952651	54952651	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:54952651G>A	uc003dhl.3	-	2	1007	c.873C>T	c.(871-873)atC>atT	p.I291I	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	291						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CAACGCCAGTGATGATGACAG	0.577000														77			21		0	0	0.003330	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706742	26706742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:26706742C>T	uc003acb.3	+	6	1817	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	SEZ6L_uc003acd.3_Missense_Mutation_p.R541C|SEZ6L_uc011akd.2_Missense_Mutation_p.R541C|SEZ6L_uc003ace.3_Missense_Mutation_p.R541C|SEZ6L_uc011akc.2_Missense_Mutation_p.R541C|SEZ6L_uc003acc.3_Missense_Mutation_p.R541C|SEZ6L_uc003acf.1_Missense_Mutation_p.R314C|SEZ6L_uc010gvc.1_Missense_Mutation_p.R314C	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	541	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAACACCATCCGCATCGAGTT	0.592000														129			16		0	0	0.006122	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534323	3534323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:3534323G>A	uc002kmf.3	-	9	2875	c.2348C>T	c.(2347-2349)gCc>gTc	p.A783V	DLGAP1_uc010wyz.2_Missense_Mutation_p.A783V|DLGAP1_uc010dkn.3_Missense_Mutation_p.A491V|DLGAP1_uc002kme.2_Missense_Mutation_p.A481V|DLGAP1_uc010wyw.2_Missense_Mutation_p.A489V|DLGAP1_uc010wyx.2_Missense_Mutation_p.A505V|DLGAP1_uc010wyy.2_Missense_Mutation_p.A467V|DLGAP1_uc002kmg.3_Missense_Mutation_p.A481V	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	783					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTTTGCACGGCCTCCAGAGG	0.592000														27			11		0	0	0.000673	0	0
OTOGL	283310	broad.mit.edu	37	12	80729754	80729754	+	Silent	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:80729754T>C	uc001szd.3	+	37	4413	c.4407T>C	c.(4405-4407)ttT>ttC	p.F1469F		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTCAGAAATTTGATCCTGTTT	0.343000														46			11		0	0	0.000978	0	0
MCM8	84515	broad.mit.edu	37	20	5953805	5953805	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:5953805T>C	uc002wmk.3	+	11	1855	c.1478T>C	c.(1477-1479)gTt>gCt	p.V493A	MCM8_uc002wmi.3_Missense_Mutation_p.V453A|MCM8_uc002wmj.3_Missense_Mutation_p.V437A|MCM8_uc002wml.3_Missense_Mutation_p.V453A|MCM8_uc010gbp.3_Intron|MCM8_uc002wmm.3_5'UTR	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	453	MCM.				DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ATCCTTGTTGTTGGAGATCCA	0.408000														60			17		0	0	0.001523	0	0
FAT3	120114	broad.mit.edu	37	11	92086160	92086160	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:92086160G>A	uc001pdj.4	+	0	899	c.882G>A	c.(880-882)gcG>gcA	p.A294A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	294	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGATGGAGCGAATGGAGAGA	0.438000										TCGA Ovarian(4;0.039)				455			121		0	0	0.003610	0	0
TRIML2	205860	broad.mit.edu	37	4	189012755	189012755	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:189012755G>A	uc011cle.1	-	7	1383	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	TRIML2_uc003izj.1_Silent_p.F140F|TRIML2_uc003izk.1_Silent_p.F120F|TRIML2_uc003izl.2_Silent_p.F312F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	312							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCTTTTCCAGGAAGAGCCTTT	0.527000														158			27		0	0	0.002096	0	0
ASXL1	171023	broad.mit.edu	37	20	31021578	31021579	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:31021578_31021579CC>TT	uc021wbw.1	+	11	2009_2010	c.1577_1578CC>TT	c.(1576-1578)tcc>tTT	p.S526F	ASXL1_uc002wxs.3_Missense_Mutation_p.S525F|ASXL1_uc010geb.3_Missense_Mutation_p.S417F	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	526					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AAGAGGAAATCCTTTGAGCAGG	0.515000			"""F, N, Mis"""		"""MDS, CMML"""									172			26		0	0	0.004672	0	0
FGL2	10875	broad.mit.edu	37	7	76828889	76828889	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:76828889C>T	uc003ugb.3	-	0	262	c.222G>A	c.(220-222)agG>agA	p.R74R	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	74					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CCTCCTCGATCCTGCTGAATT	0.502000														112			24		0	0	0.003954	0	0
SPIB	6689	broad.mit.edu	37	19	50926861	50926861	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:50926861G>A	uc002psd.3	+	5	365	c.340_splice	c.e5-1	p.T114_splice	SPIB_uc021uyc.1_Intron|SPIB_uc002pse.3_Splice_Site_p.T114_splice|SPIB_uc010ycc.2_Splice_Site_p.T23_splice	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	114					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACCTTCCGCAGACCCTGGTTC	0.647000														29			5		0	0	0.001168	0	0
NME9	347736	broad.mit.edu	37	3	138023832	138023832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:138023832C>T	uc003esg.3	-	8	702	c.674G>A	c.(673-675)gGa>gAa	p.G225E	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Missense_Mutation_p.G140E|NME9_uc003ese.1_Missense_Mutation_p.G164E	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	225	NDK.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GTGGCTTGGTCCACTGCACAT	0.607000														387			90		0	0	0.003610	0	0
PRR12	57479	broad.mit.edu	37	19	50098425	50098425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:50098425C>T	uc002poo.4	+	3	833	c.833C>T	c.(832-834)cCt>cTt	p.P278L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	14	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCACCGCCGCCTGAGCGGGCC	0.706000														15			3		0	0	0.004672	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76532463	76532463	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:76532463G>A	uc002fex.1	+	14	2386	c.2247_splice	c.e14-1	p.W749_splice	CNTNAP4_uc002feu.1_Splice_Site_p.W745_splice|CNTNAP4_uc002fev.1_Splice_Site_p.W610_splice|CNTNAP4_uc010chb.1_Splice_Site_p.W673_splice	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	746	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTGTTTTTTAGGACCAATGAC	0.348000														48			5		0	0	0.003080	0	0
CCDC73	493860	broad.mit.edu	37	11	32675583	32675583	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:32675583C>T	uc001mtv.3	-	11	819	c.775_splice	c.e11-1	p.E259_splice	CCDC73_uc001mtw.1_Splice_Site_p.E259_splice	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	259										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AATTCCAATTCCTTTAAAATT	0.269000														44			6		0	0	0.001984	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172738	207172738	+	Silent	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:207172738G>A	uc002vbp.2	+	4	3736	c.3486G>A	c.(3484-3486)ttG>ttA	p.L1162L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1162							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAATGAATTTGGATTCTGGTT	0.368000														73			15		0	0	0.002450	0	0
SDSL	113675	broad.mit.edu	37	12	113866240	113866240	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:113866240T>G	uc001tvi.3	+	3	397	c.190T>G	c.(190-192)Tgc>Ggc	p.C64G	SDSL_uc009zwh.3_Missense_Mutation_p.C64G	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	64					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	CAAGAAGGGATGCAGACACCT	0.552000														35			4		0	0	0.000602	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106680984	106680984	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:106680984A>G	uc009yxn.1	-	4	1817	c.1427T>C	c.(1426-1428)tTa>tCa	p.L476S	GUCY1A2_uc001pjg.1_Missense_Mutation_p.L476S|GUCY1A2_uc010rvo.1_Missense_Mutation_p.L497S	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	476					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGTTCTTTCTAAAGTTGCCTT	0.443000														70			9		0	0	0.004482	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113522155	113522155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:113522155C>T	uc010ljy.1	-	2	936	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	302					glycogen metabolic process	integral to membrane		p.R302Q(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTACATTTCGATTACTGGC	0.338000														92			18		0	0	0.004990	0	0
MYH15	22989	broad.mit.edu	37	3	108110668	108110668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:108110668G>A	uc003dxa.1	-	37	5486	c.5429C>T	c.(5428-5430)gCt>gTt	p.A1810V		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1810						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						TTCAGCTTCAGCCAGCCTTTT	0.463000														139			33		0	0	0.003755	0	0
FGD5	152273	broad.mit.edu	37	3	14964555	14964555	+	Silent	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:14964555C>T	uc003bzc.3	+	15	3920	c.3810C>T	c.(3808-3810)atC>atT	p.I1270I	FGD5_uc011avk.2_Silent_p.I1270I|FGD5_uc003bzd.3_Silent_p.I348I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1270					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCCTGCAGATCGTGTGCCGGA	0.607000														82			9		0	0	0.000673	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131904263	131904263	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:131904263G>T	uc002tsi.4	+	6	1293	c.709G>T	c.(709-711)Gac>Tac	p.D237Y	PLEKHB2_uc002tsh.2_Intron|PLEKHB2_uc002tsg.4_Missense_Mutation_p.D196Y|PLEKHB2_uc002tsj.4_Missense_Mutation_p.D195Y|PLEKHB2_uc002tsf.4_Missense_Mutation_p.D204Y|PLEKHB2_uc010zap.2_Missense_Mutation_p.E159D|PLEKHB2_uc010zaq.2_Missense_Mutation_p.E151D|PLEKHB2_uc010zao.2_Missense_Mutation_p.D146Y	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 2 (PLEKHB2), transcript variant 3, mRNA.	196						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		GCGCTATCGAGACAACGACAG	0.522000														181			40		5.44703e-19	1.17822e-18	0.002222	1	0
SDHAP1	255812	broad.mit.edu	37	3	195701304	195701304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:195701304C>T	uc011btq.1	-	7	1189	c.560G>A	c.(559-561)gGc>gAc	p.G187D	SDHAP1_uc003fvx.3_Non-coding_Transcript|SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		AGGGCACATGCCTGACCAGAC	0.572000														42			8		0	0	0.000673	0	0
LILRB4	11006	broad.mit.edu	37	19	55179188	55179188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:55179188G>A	uc002qgp.3	+	10	1506	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	LILRB4_uc002qgq.3_Missense_Mutation_p.E381K|LILRB4_uc010ert.3_Missense_Mutation_p.E423K|LILRB4_uc010eru.3_Missense_Mutation_p.E412K	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	382						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ACTGTCTGGGGAATTCCTGGA	0.592000														28			5		0	0	0.001168	0	0
PYGO2	90780	broad.mit.edu	37	1	154931385	154931386	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:154931385_154931386delCT	uc001fft.3	-	2	1296_1297	c.1090_1091delAG	c.(1090-1092)agcfs	p.S364fs	PBXIP1_uc001ffr.3_5'Flank|PBXIP1_uc001ffs.3_5'Flank|PBXIP1_uc010pep.2_5'Flank	NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	364					Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCATAGGCGCTCTCAGTCATG	0.579													---	45	---	---	8	---					
INO80B	83444	broad.mit.edu	37	2	74683021	74683038	+	In_Frame_Del	DEL	CCTATGGAAGGAGTCCCC	-	-	rs114533892	by1000genomes	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:74683021_74683038delCCTATGGAAGGAGTCCCC	uc010yrs.2	+	1	583_600	c.382_399delCCTATGGAAGGAGTCCCC	c.(382-399)cctatggaaggagtccccdel	p.PMEGVP128del	INO80B_uc002slg.3_In_Frame_Del_p.PMEGVP110del|INO80B_uc010yrr.2_In_Frame_Del_p.PMEGVP97del|INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002slj.2_5'Flank|WBP1_uc002sll.2_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	Homo sapiens INO80 complex subunit B (INO80B), mRNA.	110					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						TGAAGAGGAACCTATGGAAGGAGTCCCCCTTGAGCAGT	0.518													---	152	---	---	7	---					
SLC13A4	26266	broad.mit.edu	37	7	135390892	135390892	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:135390892delT	uc003vtb.3	-	3	1211	c.522delA	c.(520-522)gaafs	p.E174fs	SLC13A4_uc003vta.3_Frame_Shift_Del_p.E174fs	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	174						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GTTCGGCCTCTTCGGTGTTGG	0.627													---	58	---	---	25	---					
SET	6418	broad.mit.edu	37	9	131455214	131455215	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:131455214_131455215insT	uc004bvt.4	+	4	726_727	c.485_486insT	c.(484-486)ggtfs	p.G162fs	SET_uc022bol.1_Frame_Shift_Ins_p.G140fs|SET_uc004bvu.4_Frame_Shift_Ins_p.G149fs|SET_uc011mbj.2_Frame_Shift_Ins_p.G138fs	NM_001122821	NP_001116293	Q01105	SET_HUMAN	Homo sapiens SET nuclear oncogene (SET), transcript variant 1, mRNA.	162					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AATGAGAGTGGTGATCCATCTT	0.297			T	NUP214	AML								---	30	---	---	7	---					
ASUN	55726	broad.mit.edu	37	12	27078704	27078707	+	Frame_Shift_Del	DEL	GAAC	-	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:27078704_27078707delGAAC	uc001rhk.4	-	5	1199_1202	c.662_665delGTTC	c.(661-666)cgttctfs	p.R221fs	ASUN_uc010sjk.2_Frame_Shift_Del_p.R120fs	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	221					cell division|mitosis|regulation of mitotic cell cycle		protein binding										CTCTTTTTTAGAACGATCAGATAC	0.333													---	54	---	---	16	---					
WIF1	11197	broad.mit.edu	37	12	65462653	65462653	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:65462653delT	uc001ssk.3	-	3	804	c.429delA	c.(427-429)aaafs	p.K143fs		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	143	WIF.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CCCCATCCTGTTTTCCAAGAC	0.353			T	HMGA2	pleomorphic salivary gland adenoma								---	77	---	---	19	---					
TEP1	7011	broad.mit.edu	37	14	20852269	20852269	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:20852269delT	uc001vxe.3	-	23	3502	c.3462delA	c.(3460-3462)caafs	p.Q1154fs	TEP1_uc010ahk.3_Frame_Shift_Del_p.Q504fs|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Frame_Shift_Del_p.Q1046fs|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1154					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)		GCATCAGCCGTTGCACTGTGT	0.637													---	68	---	---	18	---					
PAPOLA	10914	broad.mit.edu	37	14	96993806	96993806	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:96993806delT	uc001yfq.3	+	4	588	c.371delT	c.(370-372)gttfs	p.V124fs	PAPOLA_uc001yfp.3_Frame_Shift_Del_p.V124fs|PAPOLA_uc001yfo.3_Frame_Shift_Del_p.V124fs|PAPOLA_uc001yfr.3_Frame_Shift_Del_p.V124fs|PAPOLA_uc010twv.2_Frame_Shift_Del_p.V124fs|PAPOLA_uc010avp.3_Intron	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	124					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CCAAGACATGTTGATCGAAGT	0.343													---	45	---	---	18	---					
HMG20A	10363	broad.mit.edu	37	15	77759553	77759553	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:77759553delA	uc002bcr.3	+	4	555	c.354delA	c.(352-354)cgafs	p.R118fs	HMG20A_uc002bcs.3_Frame_Shift_Del_p.R118fs	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	118					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ATGAGCGTCGAGAACAACTTC	0.458													---	42	---	---	25	---					
MYH11	4629	broad.mit.edu	37	16	15820795	15820797	+	In_Frame_Del	DEL	CTT	-	-	rs149241435	byFrequency	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:15820795_15820797delCTT	uc002ddx.3	-	28	3894_3896	c.3787_3789delAAG	c.(3787-3789)aagdel	p.K1263del	MYH11_uc002ddv.3_In_Frame_Del_p.K1263del|MYH11_uc002ddw.3_In_Frame_Del_p.K1256del|MYH11_uc002ddy.3_In_Frame_Del_p.K1256del|MYH11_uc010bvg.3_In_Frame_Del_p.K1088del|MYH11_uc010bvh.3_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1256			Missing (in AAT4).		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.K1256delK(1)|p.K1263delK(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGCCTCCAGCTTCTTCTTCTTA	0.611			T	CBFB	AML								---	196	---	---	49	---					
ATAD5	79915	broad.mit.edu	37	17	29220806	29220806	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:29220806delT	uc002hfs.1	+	20	5278	c.4935delT	c.(4933-4935)tgtfs	p.C1645fs		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1645					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTCTCATTGTTTAAATTCTC	0.358													---	193	---	---	21	---					
PLEKHJ1	55111	broad.mit.edu	37	19	2236167	2236167	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:2236167delG	uc002lvf.1	-	0	785	c.81delC	c.(79-81)cccfs	p.P27fs	MIR1227_uc021umq.1_5'Flank|SF3A2_uc002lvg.3_5'Flank	NM_018049	NP_060519	Q9NW61	PKHJ1_HUMAN	Homo sapiens pleckstrin homology domain containing, family J member 1 (PLEKHJ1), mRNA.	27	PH.						protein binding			endometrium(1)|kidney(1)	2				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)		TGCCCTTCTTGGGGCCCCTCA	0.746													---	4	---	---	2	---					
FAM58A	92002	broad.mit.edu	37	X	152860109	152860109	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:152860109delC	uc011myr.2	-	3	424	c.313delG	c.(313-315)gaafs	p.E105fs	FAM58A_uc011mys.2_Frame_Shift_Del_p.E105fs	NM_152274	NP_689487	Q8N1B3	FA58A_HUMAN	Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA.	109					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCAATTCCAGGGGCTCA	0.552													---	17	---	---	11	---