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
CSF2RB	1439	broad.mit.edu	37	22	37334053	37334053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:37334053G>A	uc003aqa.4	+	13	2420	c.2203G>A	c.(2203-2205)Ggc>Agc	p.G735S	CSF2RB_uc003aqc.4_Missense_Mutation_p.G741S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	735					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCCCTCTCTGGGCCTCCCCTC	0.617000														44			54		0	0	0.003610	0	0
TCP11	6954	broad.mit.edu	37	6	35108526	35108526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:35108526G>A	uc003okd.2	-	1	342	c.161C>T	c.(160-162)cCc>cTc	p.P54L	TCP11_uc003ojz.1_Intron|TCP11_uc003oka.2_5'UTR|TCP11_uc003okb.2_5'UTR|TCP11_uc011dsu.1_Missense_Mutation_p.P41L|TCP11_uc003okc.2_5'UTR|TCP11_uc011dsv.1_Intron|TCP11_uc011dsw.1_Intron	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	41					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GGACCTACAGGGAGGGGGGTC	0.647000														22			11		0	0	0.001368	0	0
ATP7B	540	broad.mit.edu	37	13	52544779	52544780	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:52544779_52544780CC>TT	uc001vfw.2	-	2	1548_1549	c.1391_1392GG>AA	c.(1390-1392)ggg>gAA	p.G464E	ATP7B_uc001vfy.2_Missense_Mutation_p.G353E|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.G464E|ATP7B_uc010tgt.1_Missense_Mutation_p.G464E|ATP7B_uc010tgu.1_Missense_Mutation_p.G464E|ATP7B_uc010tgv.1_Missense_Mutation_p.G464E|ATP7B_uc010tgw.1_Missense_Mutation_p.G432E	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	464					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.G464G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CAGGGAGCCTCCCAGTGTGGGG	0.525000									Wilson disease					78			56		0	0	0.004672	0	0
AGXT2	64902	broad.mit.edu	37	5	34998865	34998865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:34998865G>A	uc003jjf.3	-	13	1747	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	AGXT2_uc003jje.1_Missense_Mutation_p.R155C|AGXT2_uc011com.2_Missense_Mutation_p.R427C	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	502					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.R502H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AAGGCAGAACGAAATACTTCT	0.378000														32			14		0	0	0.004007	0	0
N6AMT1	29104	broad.mit.edu	37	21	30252217	30252217	+	Missense_Mutation	SNP	G	A	A	rs147660663		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:30252217G>A	uc002ymo.1	-	3	397	c.371C>T	c.(370-372)cCc>cTc	p.P124L	N6AMT1_uc002ymp.1_Intron|N6AMT1_uc002ymq.1_Non-coding_Transcript	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (putative) (N6AMT1), transcript variant 1, mRNA.	124	Substrate binding (By similarity).				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.P124T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						CACTACATAGGGGGGATTAAA	0.303000														69			41		0	0	0.001485	0	0
SGSM1	129049	broad.mit.edu	37	22	25243717	25243717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:25243717G>A	uc003abg.2	+	3	413	c.256G>A	c.(256-258)Gat>Aat	p.D86N	SGSM1_uc010guu.1_Missense_Mutation_p.D86N|SGSM1_uc003abh.2_Missense_Mutation_p.D86N|SGSM1_uc003abj.2_Missense_Mutation_p.D86N|SGSM1_uc003abi.1_Missense_Mutation_p.D61N|SGSM1_uc003abf.2_Missense_Mutation_p.D86N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	86	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCCGGCTGAGGATCTGAGCCG	0.607000														15			8		0	0	0.004482	0	0
SPCS2	9789	broad.mit.edu	37	1	28422781	28422781	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:28422781C>T	uc010ofv.1	-	0	289	c.153G>A	c.(151-153)tgG>tgA	p.W51*		NM_014752	NP_055567	Q15005	SPCS2_HUMAN	Homo sapiens signal peptidase complex subunit 2 homolog (S. cerevisiae) (SPCS2), mRNA.	51					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						CTGATCCATCCCACTTGTCAA	0.453000														8			6		0	0	0.001984	0	0
SUCLG1	8802	broad.mit.edu	37	2	84670433	84670433	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:84670433A>G	uc002son.3	-	2	486	c.293T>C	c.(292-294)tTa>tCa	p.L98S	SUCLG1_uc010ysk.1_Missense_Mutation_p.L85S	NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	98					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	AAAGACAGGTAAGCCCAGATG	0.493000														40			41		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720391	140720391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:140720391C>T	uc003ljk.2	+	0	2038	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S618L	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	620	Cadherin 6.				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)			GGACTCTTCTCGGTGGGTCTG	0.677000														52			17		0	0	0.006122	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885032	24885032	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:24885032C>T	uc001wpf.4	+	8	4395	c.4077C>T	c.(4075-4077)gcC>gcT	p.A1359A		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1359					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGCCGTGGCCTGCGGCCTGG	0.617000														11			41		0	0	0.001485	0	0
IL36B	27177	broad.mit.edu	37	2	113788669	113788669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:113788669C>T	uc002tiq.1	-	2	181	c.77G>A	c.(76-78)gGa>gAa	p.G26E	IL36B_uc002tir.1_Missense_Mutation_p.G26E	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	26					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TAAAGAATTTCCACTCAGGAC	0.483000														25			21		0	0	0.003954	0	0
POTEE	445582	broad.mit.edu	37	2	131976013	131976013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:131976013C>T	uc002tsn.2	+	0	90	c.38C>T	c.(37-39)tCt>tTt	p.S13F	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	13							ATP binding										GCTGCCTCTTCTGTGAAGAAG	0.542000														31			28		0	0	0.001485	0	0
YTHDF2	51441	broad.mit.edu	37	1	29064819	29064819	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:29064819T>A	uc021okf.1	+	3	364	c.101T>A	c.(100-102)tTt>tAt	p.F34Y	YTHDF2_uc001brc.3_Missense_Mutation_p.F34Y|YTHDF2_uc010ofx.2_5'UTR|YTHDF2_uc001bre.3_5'UTR	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	34					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATGATGATTTTGAACCTTAC	0.363000														13			22		0	0	0.003330	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431525	56431525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:56431525C>T	uc010rjm.2	+	0	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GGCCTATGGTCGTTTTGTGGC	0.512000														17			81		0	0	0.003610	0	0
OVGP1	5016	broad.mit.edu	37	1	111964047	111964047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:111964047G>A	uc001eba.3	-	7	810	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	OVGP1_uc001eaz.3_Missense_Mutation_p.P214S|OVGP1_uc010owb.2_Intron	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	252					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTCTCTGAGGGTGCCCCAAGC	0.532000														41			33		0	0	0.003755	0	0
PLCH1	23007	broad.mit.edu	37	3	155198963	155198963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:155198963C>T	uc021xge.1	-	22	5153	c.4876G>A	c.(4876-4878)Gtg>Atg	p.V1626M	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.V1588M	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1626					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			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)			TGGCGATTCACTGCAGGGGTG	0.587000														54			22		0	0	0.002299	0	0
THYN1	29087	broad.mit.edu	37	11	134119756	134119756	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:134119756T>C	uc001qhf.3	-	4	452	c.350A>G	c.(349-351)aAc>aGc	p.N117S	THYN1_uc001qhg.3_Missense_Mutation_p.N117S|THYN1_uc001qhh.3_Missense_Mutation_p.N117S|THYN1_uc001qhi.3_Missense_Mutation_p.N117S|THYN1_uc001qhj.3_Missense_Mutation_p.N117S|THYN1_uc009zdb.3_Missense_Mutation_p.N117S	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	117						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		CTCTTTGCAGTTGCTATGGTA	0.488000														23			54		0	0	0.003610	0	0
GRIK3	2899	broad.mit.edu	37	1	37356687	37356687	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:37356687G>A	uc001caz.2	-	1	261	c.126C>T	c.(124-126)ttC>ttT	p.F42F	GRIK3_uc001cba.1_Silent_p.F42F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	42					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.F42F(2)|p.I41I(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCGCATACTCGAAGATTCCTC	0.498000														96			31		0	0	0.003271	0	0
CDH6	1004	broad.mit.edu	37	5	31302390	31302390	+	Silent	SNP	T	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:31302390T>C	uc003jhe.2	+	5	1344	c.984T>C	c.(982-984)atT>atC	p.I328I	CDH6_uc003jhd.2_Silent_p.I328I	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	328	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGGAAGGGATTATAACTGTCA	0.438000														28			10		0	0	0.000978	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241538	60241538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:60241538C>T	uc002lip.4	+	12	2224	c.2224C>T	c.(2224-2226)Ccc>Tcc	p.P742S	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.P212S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	742					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGCACCCAAACCCGCTGATGG	0.463000														37			18		0	0	0.000958	0	0
EEF2K	29904	broad.mit.edu	37	16	22237194	22237194	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:22237194G>A	uc002dki.3	+	1	629	c.144G>A	c.(142-144)tcG>tcA	p.S48S	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	48					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ACCCAAGCTCGAACCAGAATG	0.532000														38			15		0	0	0.002450	0	0
KCNT1	57582	broad.mit.edu	37	9	138676725	138676726	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:138676725_138676726CC>TT	uc011mdq.2	+	26	3220_3221	c.3146_3147CC>TT	c.(3145-3147)tcc>tTT	p.S1049F	KCNT1_uc011mdr.2_Missense_Mutation_p.S876F|KCNT1_uc010nbf.3_Missense_Mutation_p.S1004F|KCNT1_uc004cgo.1_Missense_Mutation_p.S798F	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1049						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CACGTCTTCTCCACCTCGGAGG	0.658000														41			44		0	0	0.004672	0	0
TCOF1	6949	broad.mit.edu	37	5	149748403	149748403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:149748403C>T	uc003lry.3	+	4	611	c.503C>T	c.(502-504)aCg>aTg	p.T168M	TCOF1_uc003lrw.3_Missense_Mutation_p.T168M|TCOF1_uc003lrz.3_Missense_Mutation_p.T168M|TCOF1_uc011dch.2_Missense_Mutation_p.T168M|TCOF1_uc003lrx.3_Missense_Mutation_p.T168M|TCOF1_uc003lsa.3_Missense_Mutation_p.T168M	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	168					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAATACTACGTTGGTCTCA	0.572000														10			29		0	0	0.001786	0	0
IL1RL2	8808	broad.mit.edu	37	2	102851421	102851421	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:102851421C>T	uc002tbs.3	+	10	1488	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	IL1RL2_uc002tbt.3_Silent_p.P336P	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	454	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.P454P(2)|p.P336P(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTGTGGTCCCCGAATCGCTGG	0.493000														35			19		0	0	0.006122	0	0
HEXDC	284004	broad.mit.edu	37	17	80400218	80400218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:80400218G>A	uc002kev.4	+	11	1924	c.1508G>A	c.(1507-1509)tGc>tAc	p.C503Y	HEXDC_uc002kew.3_Silent_p.L473L|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	0					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCCCCCCGCTGCCACCCACCA	0.692000														17			6		0	0	0.001168	0	0
MAST4	375449	broad.mit.edu	37	5	66400333	66400334	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:66400333_66400334CC>TT	uc021xzk.1	+	9	1594_1595	c.1286_1287CC>TT	c.(1285-1287)tcc>tTT	p.S429F	MAST4_uc003jus.3_Missense_Mutation_p.S240F|MAST4_uc003jut.2_Missense_Mutation_p.S240F|MAST4_uc003juu.1_Missense_Mutation_p.S250F|MAST4_uc011cra.1_Missense_Mutation_p.S223F|MAST4_uc010ixa.2_Non-coding_Transcript|MAST4_uc003juv.2_Missense_Mutation_p.S235F|MAST4_uc003juw.3_Missense_Mutation_p.S235F	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	432						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)		TTGGATAAATCCCACCAGGGCC	0.436000														24			6		0	0	0.004672	0	0
ATRNL1	26033	broad.mit.edu	37	10	117278772	117278772	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr10:117278772G>A	uc001lcg.3	+	25	4041	c.3655_splice	c.e25-1	p.I1219_splice	ATRNL1_uc010qsm.2_Splice_Site_p.I348_splice|ATRNL1_uc010qsn.2_Splice_Site	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1219						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGATTTTTCAGATTGCATTCT	0.313000														6			18		0	0	0.001523	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416681	121416682	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:121416681_121416682GG>TA	uc010hrc.3	-	12	2814_2815	c.2688_2689CC>TA	c.(2686-2691)accctc>acTAtc	p.L897I	GOLGB1_uc003eei.4_Missense_Mutation_p.L892I|GOLGB1_uc003eej.4_Missense_Mutation_p.L858I|GOLGB1_uc021xcy.1_Missense_Mutation_p.L817I|GOLGB1_uc011bjm.1_Missense_Mutation_p.L778I|GOLGB1_uc010hrd.1_Missense_Mutation_p.L856I	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	892					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTTGTTGGAGGGTTTCCACAT	0.396000														79			54		0	0	0.004672	0	0
SCGN	10590	broad.mit.edu	37	6	25665219	25665219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:25665219C>T	uc003nfb.3	+	3	498	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	SCGN_uc010jpz.3_Silent_p.F8F	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	99						extracellular region|transport vesicle membrane	calcium ion binding	p.R99C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TCTGCTCTTTCGCCGGGAAAA	0.473000														39			40		0	0	0.003610	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575587	56575587	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:56575587G>A	uc001skb.3	-	8	847	c.741C>T	c.(739-741)acC>acT	p.T247T	SMARCC2_uc001skd.3_Silent_p.T247T|SMARCC2_uc001ska.3_Silent_p.T247T|SMARCC2_uc001skc.3_Silent_p.T247T|SMARCC2_uc010sqf.2_Silent_p.T136T	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	247					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATTCATTGAAGGTGTCGGTGT	0.473000														11			53		0	0	0.003610	0	0
PHF21B	112885	broad.mit.edu	37	22	45309881	45309881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:45309881G>A	uc003bfn.3	-	4	803	c.652C>T	c.(652-654)Cca>Tca	p.P218S	PHF21B_uc011aqk.2_Intron|PHF21B_uc003bfm.3_Intron|PHF21B_uc011aql.2_Intron|PHF21B_uc011aqm.1_Intron	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	218							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		gacagtgatggggagggaggg	0.652000														15			29		0	0	0.005443	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829652	26829652	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:26829652C>G	uc003acg.2	+	1	468	c.71C>G	c.(70-72)tCc>tGc	p.S24C		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	24					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						AGTAAGGACTCCCCCAAGATG	0.652000														18			26		0	0	0.002445	0	0
TRPM2	7226	broad.mit.edu	37	21	45795868	45795868	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:45795868C>T	uc010gpt.1	+	5	1024	c.924C>T	c.(922-924)ttC>ttT	p.F308F	TRPM2_uc002zet.1_Silent_p.F308F|TRPM2_uc002zeu.1_Silent_p.F308F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.F308F|TRPM2_uc002zex.1_Silent_p.F94F	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	308						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGGAGAAGTTCATATCGGAGC	0.582000														24			12		0	0	0.001855	0	0
ALPK1	80216	broad.mit.edu	37	4	113352739	113352739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:113352739C>T	uc003ian.4	+	10	2263	c.2036C>T	c.(2035-2037)aCc>aTc	p.T679I	ALPK1_uc003iap.4_Missense_Mutation_p.T679I|ALPK1_uc011cfx.2_Missense_Mutation_p.T601I|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.T507I	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	679							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCTCATAATACCCCAGGCATT	0.493000														27			12		0	0	0.001368	0	0
CENPF	1063	broad.mit.edu	37	1	214818199	214818199	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:214818199C>T	uc001hkm.3	+	12	5460	c.5286C>T	c.(5284-5286)ttC>ttT	p.F1762F		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1858					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTATGGATTTCCTGGGGAATC	0.413000														22			16		0	0	0.003163	0	0
OR10J3	441911	broad.mit.edu	37	1	159284411	159284411	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:159284411G>A	uc010piu.2	-	0	39	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AACCTTCAAAGAGGAACTCAG	0.423000														59			100		0	0	0.003610	0	0
PSD2	84249	broad.mit.edu	37	5	139197084	139197084	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:139197084G>A	uc003leu.1	+	4	1240	c.1035G>A	c.(1033-1035)ctG>ctA	p.L345L		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	345	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGCAGGCTGGTGGCCGGGG	0.577000														15			17		0	0	0.001523	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693194	187693194	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:187693194G>A	uc002upu.1	-	8	1459	c.1419C>T	c.(1417-1419)atC>atT	p.I473I		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	473					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TATCTAATTTGATAGAGCATA	0.303000														32			10		0	0	0.000443	0	0
ZNF70	7621	broad.mit.edu	37	22	24086677	24086677	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:24086677G>A	uc002zxs.3	-	1	1112	c.651C>T	c.(649-651)atC>atT	p.I217I	ZNF70_uc021wmu.1_Silent_p.I217I	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	Homo sapiens zinc finger protein 70 (ZNF70), mRNA.	217						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTCCGGTGTGGATCTTTTGGT	0.577000														15			20		0	0	0.002780	0	0
BCO2	83875	broad.mit.edu	37	11	112064218	112064218	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:112064218G>A	uc001pnf.3	+	2	432	c.315G>A	c.(313-315)ggG>ggA	p.G105G	BCO2_uc001pne.1_5'UTR|BCO2_uc001png.3_Silent_p.G105G|BCO2_uc001pnh.3_Silent_p.G71G|BCO2_uc010rwt.2_5'UTR|BCO2_uc009yyn.3_Silent_p.G71G|BCO2_uc001pni.3_Silent_p.G71G	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	105					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GGTTTGATGGGATGGCGCTGC	0.388000														3			24		0	0	0.003330	0	0
NRK	203447	broad.mit.edu	37	X	105168889	105168889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:105168889G>A	uc004emd.3	+	18	3481	c.3178G>A	c.(3178-3180)Gat>Aat	p.D1060N	NRK_uc010npc.1_Missense_Mutation_p.D728N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1060							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAGTGAGGGTGATGGAGGTAA	0.502000										HNSCC(51;0.14)				4			16		0	0	0.004990	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101773372	101773372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:101773372C>T	uc001pgl.3	-	5	1116	c.520G>A	c.(520-522)Gga>Aga	p.G174R		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	174	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TAGCTAGATCCTTCTGGGTGA	0.338000														13			49		0	0	0.003610	0	0
ZNF331	55422	broad.mit.edu	37	19	54074872	54074872	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:54074872C>T	uc002qbx.1	+	5	1458	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ZNF331_uc002qby.1_Silent_p.F8F|ZNF331_uc002qbz.1_Silent_p.F8F|ZNF331_uc010eqr.1_Silent_p.F8F|ZNF331_uc002qca.1_Silent_p.F8F|ZNF331_uc021uzg.1_Silent_p.F8F|ZNF331_uc021uzh.1_Silent_p.F8F|ZNF331_uc002qcb.1_Silent_p.F8F|ZNF331_uc002qcc.1_Silent_p.F8F|ZNF331_uc002qcd.1_Silent_p.F8F	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	8	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T7M(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGGTGACGTTCGCCGACGTAG	0.527000			T	?	follicular thyroid adenoma									136			147		0	0	0.003610	0	0
HEATR4	399671	broad.mit.edu	37	14	73989840	73989840	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:73989840T>C	uc021rwe.1	-	2	365	c.17A>G	c.(16-18)aAg>aGg	p.K6R	HEATR4_uc021rwf.1_5'UTR|HEATR4_uc010tub.1_Missense_Mutation_p.K6R	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGTCTTTCCCTTCTGGGTCCT	0.527000														2			6		0	0	0.001168	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86067340	86067340	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:86067340G>T	uc002sqq.1	-	6	1313	c.1184C>A	c.(1183-1185)aCc>aAc	p.T395N	ST3GAL5_uc010fgq.1_Missense_Mutation_p.T214N|ST3GAL5_uc002sqp.1_Missense_Mutation_p.T372N	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 5 (ST3GAL5), transcript variant 1, mRNA.	395					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GAGGAACTTGGTTTCCGTTGT	0.433000														37			36		2.47316e-13	5.50572e-13	0.003271	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558546	140558546	+	Missense_Mutation	SNP	G	A	A	rs148140727		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:140558546G>A	uc011dai.2	+	0	1176	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	311	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E311K(4)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTGATTTCGAAAAATTTCA	0.383000														328			17		0	0	0.004007	0	0
COL6A5	256076	broad.mit.edu	37	3	130189733	130189733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:130189733C>T	uc010htj.1	+	38	7990	c.7496C>T	c.(7495-7497)cCc>cTc	p.P2499L	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.P538L|COL6A5_uc010htk.1_Missense_Mutation_p.P538L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2499	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AACAAATATCCCACCGAAGAT	0.428000														22			7		0	0	0.003080	0	0
KCNMA1	3778	broad.mit.edu	37	10	78669767	78669768	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr10:78669767_78669768CC>TT	uc001jxn.3	-	24	3280_3281	c.3103_3104GG>AA	c.(3103-3105)ggg>AAg	p.G1035K	KCNMA1_uc021ptu.1_Missense_Mutation_p.G927K|KCNMA1_uc001jxj.2_Missense_Mutation_p.G981K|KCNMA1_uc001jxk.1_Missense_Mutation_p.G653K|KCNMA1_uc009xrt.1_Missense_Mutation_p.G826K|KCNMA1_uc001jxl.1_Missense_Mutation_p.G660K|KCNMA1_uc001jxo.3_Missense_Mutation_p.G1018K|KCNMA1_uc001jxm.3_Missense_Mutation_p.G977K|KCNMA1_uc001jxq.3_Missense_Mutation_p.G1007K	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1035	Segment S10.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AAATGCTGTCCCACAGGCAAAG	0.495000														4			8		0	0	0.004672	0	0
ATP2B2	491	broad.mit.edu	37	3	10430031	10430031	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:10430031G>A	uc003bvt.3	-	5	1276	c.837C>T	c.(835-837)aaC>aaT	p.N279N	ATP2B2_uc003bvv.3_Silent_p.N279N|ATP2B2_uc003bvw.3_Silent_p.N279N|ATP2B2_uc010hdp.2_Silent_p.N279N|ATP2B2_uc010hdo.3_Silent_p.N15N	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	279					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGTCTGAGAGTTCACACCCA	0.522000														55			62		0	0	0.003610	0	0
POTED	317754	broad.mit.edu	37	21	15013801	15013801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:15013801G>A	uc002yjb.1	+	10	1721	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	557						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AATTTTGGAGGAAATTGAAAG	0.368000														26			20		0	0	0.003271	0	0
PCNX	22990	broad.mit.edu	37	14	71518712	71518712	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:71518712C>T	uc001xmo.2	+	23	5006	c.4560C>T	c.(4558-4560)ttC>ttT	p.F1520F	PCNX_uc010are.1_Silent_p.F1409F|PCNX_uc010arf.1_Silent_p.F380F	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1520						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGTGAAATTCTGGGAGAGAG	0.368000														39			17		0	0	0.004990	0	0
ABCA3	21	broad.mit.edu	37	16	2369591	2369591	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:2369591C>T	uc002cpy.1	-	7	1576	c.864G>A	c.(862-864)agG>agA	p.R288R	ABCA3_uc010bsk.1_Silent_p.R288R|ABCA3_uc010bsl.1_Silent_p.R288R	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	288					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCTTCAGCCTCCTTTCCTTCT	0.572000														35			19		0	0	0.001523	0	0
PTK2B	2185	broad.mit.edu	37	8	27311673	27311673	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:27311673C>T	uc003xfn.2	+	33	3406	c.2598C>T	c.(2596-2598)tcC>tcT	p.S866S	PTK2B_uc022ate.1_Silent_p.S866S|PTK2B_uc003xfp.2_Silent_p.S866S|PTK2B_uc003xfq.2_Silent_p.S824S	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	866	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCCCTCAGTCCATCCAGCCCA	0.602000														6			19		0	0	0.006122	0	0
ANGPT1	284	broad.mit.edu	37	8	108297042	108297042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:108297042C>T	uc003ymn.3	-	6	1541	c.1073G>A	c.(1072-1074)gGg>gAg	p.G358E	ANGPT1_uc011lhv.2_Missense_Mutation_p.G158E|ANGPT1_uc003ymo.3_Missense_Mutation_p.G357E|ANGPT1_uc003ymp.4_Missense_Mutation_p.G157E	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	358	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AAACTCATTCCCCAGCCAATA	0.408000														25			29		0	0	0.001786	0	0
ANKRD52	283373	broad.mit.edu	37	12	56648425	56648425	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:56648425G>A	uc001skm.4	-	6	720	c.630C>T	c.(628-630)ctC>ctT	p.L210L	ANKRD52_uc001skn.1_Non-coding_Transcript	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	210							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CAGCTGTATGGAGCAGCCCAT	0.587000														0			7		0	0	0.003080	0	0
MEGF6	1953	broad.mit.edu	37	1	3414996	3414996	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:3414996A>C	uc001akl.3	-	25	3518	c.3291T>G	c.(3289-3291)tgT>tgG	p.C1097W	MEGF6_uc001akk.3_Missense_Mutation_p.C906W	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	1097	EGF-like 20.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TGTGCGGGTCACACAGGCCCC	0.721000														4			3		0	0	0.000248	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927268	43927268	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:43927268C>T	uc010yny.2	+	7	1254	c.1171C>T	c.(1171-1173)Caa>Taa	p.Q391*	PLEKHH2_uc002rte.3_Nonsense_Mutation_p.Q391*|PLEKHH2_uc002rtf.3_Nonsense_Mutation_p.Q390*	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	391						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAAAAAATTTCAATCCCAGAG	0.408000														218			107		0	0	0.003610	0	0
SSPO	23145	broad.mit.edu	37	7	149500562	149500562	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:149500562G>A	uc010lpk.3	+	54	7955	c.7955_splice	c.e54-1	p.G2652_splice		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2655	TIL 4.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CATACTCCCAGGATGCCGCTG	0.677000														6			6		0	0	0.003080	0	0
CFTR	1080	broad.mit.edu	37	7	117176693	117176693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:117176693G>A	uc003vjd.3	+	6	967	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	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.	279	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			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)	CTGCTGGGAAGAAGCAATGGA	0.308000									Cystic Fibrosis					27			19		0	0	0.002299	0	0
WDR62	284403	broad.mit.edu	37	19	36592980	36592980	+	Silent	SNP	C	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:36592980C>A	uc002odd.2	+	25	3238	c.3147C>A	c.(3145-3147)tcC>tcA	p.S1049S	WDR62_uc002odc.2_Silent_p.S1049S	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	1049					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCAGCAGCTCCCTACCCCAGA	0.642000														63			5		0.00116845	0.00252893	0.001168	1	0
POU4F2	5458	broad.mit.edu	37	4	147561718	147561718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:147561718C>T	uc003ikv.3	+	1	1236	c.988C>T	c.(988-990)Cac>Tac	p.H330Y		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	330					MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGAGAAGTCCCACCGCGAGAA	0.592000														37			18		0	0	0.000958	0	0
PPP1R1C	151242	broad.mit.edu	37	2	182928484	182928484	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:182928484G>A	uc010frm.1	+	3	515	c.228G>A	c.(226-228)agG>agA	p.R76R	PPP1R1C_uc002uoo.3_Silent_p.R69R|PPP1R1C_uc002uop.1_Silent_p.R69R|PPP1R1C_uc010frn.1_Non-coding_Transcript	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1C (PPP1R1C), mRNA.	69					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			CTAAGCAAAGGAAGCAGAGTG	0.458000														51			30		0	0	0.001786	0	0
OR1F1	4992	broad.mit.edu	37	16	3255141	3255141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:3255141G>A	uc010uwu.2	+	0	895	c.895G>A	c.(895-897)Ggg>Agg	p.G299R		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GTACTTGAAAGGGGCTCTGAA	0.418000														32			44		0	0	0.002852	0	0
TBX20	57057	broad.mit.edu	37	7	35242269	35242269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:35242269C>T	uc011kas.2	-	7	1597	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	373						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GCTATGGATGCTGTGCTGGTG	0.527000														14			4		0	0	0.000602	0	0
TRANK1	9881	broad.mit.edu	37	3	36896672	36896672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:36896672G>A	uc003cgj.3	-	11	4657	c.4409C>T	c.(4408-4410)tCc>tTc	p.S1470F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1470					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTGAGTGGGACCTGTAATT	0.517000														14			5		0	0	0.001168	0	0
CR1	1378	broad.mit.edu	37	1	207758168	207758168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:207758168G>A	uc001hfy.3	+	24	4267	c.4127G>A	c.(4126-4128)gGg>gAg	p.G1376E	CR1_uc009xcl.1_Missense_Mutation_p.G926E|CR1_uc001hfx.3_Missense_Mutation_p.G1826E|CR1_uc021pij.1_Missense_Mutation_p.G1376E	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1376	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACCCTCATGGGAATGGGGTT	0.512000														67			21		0	0	0.005443	0	0
LMF1	64788	broad.mit.edu	37	16	919955	919955	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:919955G>A	uc021tae.1	-	8	1348	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P	LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Silent_p.P231P|LMF1_uc021tad.1_Silent_p.P279P|LMF1_uc010bri.2_Silent_p.P211P|LMF1_uc002ckk.2_Silent_p.P231P	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	448						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCGTCTGCTGGGGTCACCTG	0.677000														32			15		0	0	0.003163	0	0
FABP6	2172	broad.mit.edu	37	5	159659229	159659229	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:159659229C>T	uc003lya.1	+	1	320	c.192C>T	c.(190-192)ttC>ttT	p.F64F	FABP6_uc003lxx.1_Silent_p.F113F|FABP6_uc003lxz.1_Silent_p.F113F|HI423497_uc021ygz.1_5'Flank	NM_001445	NP_001436	P51161	FABP6_HUMAN	Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 2, mRNA.	64					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAACAAGTTCACTGTTGGCA	0.582000														7			5		0	0	0.000602	0	0
KSR2	283455	broad.mit.edu	37	12	117922329	117922329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:117922329C>T	uc001two.2	-	15	2310	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	781	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.H751N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGTAGGATTCCCTTGGCGTG	0.512000														0			10		0	0	0.000978	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831617	7831617	+	Missense_Mutation	SNP	G	A	A	rs138729831	byFrequency	TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:7831617G>A	uc010dvt.3	+	4	978	c.860G>A	c.(859-861)cGg>cAg	p.R287Q	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.R264Q|CLEC4M_uc010xjw.2_Missense_Mutation_p.R220Q|CLEC4M_uc010dvs.3_Missense_Mutation_p.R263Q|CLEC4M_uc010xjx.2_Missense_Mutation_p.R236Q|CLEC4M_uc002mhz.3_Missense_Mutation_p.R195Q|CLEC4M_uc002mic.3_Missense_Mutation_p.R259Q|CLEC4M_uc002mia.3_Missense_Mutation_p.R151Q	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	287	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AACTCCCAGCGGAACTGGCAC	0.592000														35			22		0	0	0.003330	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725326	140725326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:140725326G>A	uc003ljm.2	+	0	1726	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.E576K	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	578	Cadherin 6.				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)			CACTGGCGTGGAGCTGGCGCC	0.667000														55			26		0	0	0.001061	0	0
SLC38A6	145389	broad.mit.edu	37	14	61512123	61512123	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:61512123C>T	uc001xfh.2	+	10	968	c.804C>T	c.(802-804)ccC>ccT	p.P268P	SLC38A6_uc001xfg.2_Silent_p.P268P|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_Silent_p.P245P	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	268					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		CAATATTGCCCATATACTGTG	0.333000														11			19		0	0	0.001523	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338707	13338707	+	RNA	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:13338707G>A	uc003gms.3	+	0		c.3671G>A								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						AAGAAGTAGTGGAGAAGCACT	0.458000														6			7		0	0	0.003080	0	0
C3orf39	84892	broad.mit.edu	37	3	43122145	43122146	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:43122145_43122146GA>AC	uc003cmr.1	-	1	1121_1122	c.778_779TC>GT	c.(778-780)tca>GTa	p.S260V	C3orf39_uc003cmq.1_Missense_Mutation_p.S260V|C3orf39_uc021wwn.1_Missense_Mutation_p.S260V	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	260						extracellular region	transferase activity, transferring glycosyl groups	p.V259I(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		CTCATTGCCTGAGACGAGGATG	0.554000														29			30		0	0	0.004672	0	0
EPS15L1	58513	broad.mit.edu	37	19	16514715	16514715	+	Silent	SNP	T	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:16514715T>C	uc002ndx.3	-	14	1461	c.1455A>G	c.(1453-1455)caA>caG	p.Q485Q	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Silent_p.Q375Q|EPS15L1_uc002ndz.1_Silent_p.Q485Q|EPS15L1_uc010xpf.1_Silent_p.Q388Q|EPS15L1_uc002nea.1_Silent_p.Q485Q|EPS15L1_uc010eah.1_Silent_p.Q485Q|EPS15L1_uc002neb.1_Silent_p.Q331Q|EPS15L1_uc002nec.1_Silent_p.Q485Q	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	485					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ATTCCTGAGATTGGATTTGCG	0.458000														18			4		0	0	0.000602	0	0
DCC	1630	broad.mit.edu	37	18	50705392	50705392	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:50705392G>A	uc002lfe.2	+	8	2095	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K	DCC_uc010xdr.1_Silent_p.K341K|DCC_uc010dpf.2_Silent_p.K148K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	493	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.K493N(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAACCTGAAGCCAGAAGCCA	0.488000														12			17		0	0	0.004007	0	0
IGSF21	84966	broad.mit.edu	37	1	18618468	18618468	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:18618468C>T	uc001bau.2	+	2	675	c.292C>T	c.(292-294)Cag>Tag	p.Q98*		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	98	Ig-like 1.					extracellular region		p.Q98*(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCTGGTGTACCAGTCCACTGT	0.607000														55			25		0	0	0.001061	0	0
CBX4	8535	broad.mit.edu	37	17	77809476	77809477	+	Missense_Mutation	DNP	CT	TG	TG			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:77809476_77809477CT>TG	uc002jxe.3	-	3	377_378	c.214_215AG>CA	c.(214-216)aga>CAa	p.R72Q		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	72	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTTCGGCCCTCTCTTCCGATAT	0.649000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			9		0	0	0.004672	0	0
RASSF6	166824	broad.mit.edu	37	4	74442000	74442000	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:74442000C>T	uc003hhd.1	-	10	1185	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	RASSF6_uc003hhc.1_Silent_p.L322L|RASSF6_uc010iik.1_Silent_p.L288L|RASSF6_uc010iil.1_Silent_p.L310L	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	354	SARAH.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAAGACATTTCAGTATAATCG	0.289000														11			12		0	0	0.001368	0	0
SDPR	8436	broad.mit.edu	37	2	192701257	192701257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:192701257C>T	uc002utb.3	-	1	1025	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	224						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTACTTTCTTCCACCTTTTCC	0.483000														66			25		0	0	0.003954	0	0
ZNF181	339318	broad.mit.edu	37	19	35232544	35232544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:35232544C>T	uc002nvu.3	+	3	1721	c.1258C>T	c.(1258-1260)Ctt>Ttt	p.L420F	ZNF181_uc010xsb.1_Missense_Mutation_p.L419F|ZNF181_uc010xsc.1_Missense_Mutation_p.L355F	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCTCTCATTTCTTGTTCAGCA	0.378000														17			17		0	0	0.001523	0	0
OPHN1	4983	broad.mit.edu	37	X	67518911	67518911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:67518911G>A	uc004dww.4	-	2	476	c.182C>T	c.(181-183)tCc>tTc	p.S61F	OPHN1_uc011mpg.2_Missense_Mutation_p.S61F|OPHN1_uc004dwx.3_Missense_Mutation_p.S61F	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	61					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAGCGTCTGGGAAAATTTCTG	0.378000														5			32		0	0	0.004878	0	0
ITSN2	50618	broad.mit.edu	37	2	24426500	24426500	+	Silent	SNP	G	A	A	rs147903706		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:24426500G>A	uc002rfe.2	-	39	5347	c.5089C>T	c.(5089-5091)Ctg>Ttg	p.L1697L	ITSN2_uc002rff.2_Silent_p.L1670L|ITSN2_uc021vep.1_3'UTR	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	1697					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCCCTACAGGAGAGTTTTT	0.592000														13			3		0	0	0.004672	0	0
HPD	3242	broad.mit.edu	37	12	122295271	122295271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:122295271G>A	uc001ubj.3	-	3	201	c.161C>T	c.(160-162)tCc>tTc	p.S54F	HPD_uc001ubk.3_Missense_Mutation_p.S15F	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	54					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CACCTCCCGGGAACCGGTCTC	0.582000														7			28		0	0	0.001512	0	0
PER1	5187	broad.mit.edu	37	17	8049948	8049948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:8049948G>A	uc002gkd.3	-	14	2109	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.S608F	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	624	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGCTGGTAGGAGCAGCTGGA	0.632000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						7			34		0	0	0.005524	0	0
ATAD2	29028	broad.mit.edu	37	8	124358364	124358364	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:124358364C>A	uc003yqh.4	-	17	2602	c.2494G>T	c.(2494-2496)Gga>Tga	p.G832*	ATAD2_uc011lii.2_Nonsense_Mutation_p.G623*|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Nonsense_Mutation_p.G832*	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	832					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTACTAACTCCAAAAAGAACA	0.413000														93			6		0.000157383	0.000344622	0.003080	1	0
TMEM74B	55321	broad.mit.edu	37	20	1162070	1162070	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:1162070A>T	uc002weq.1	-	1	865	c.193T>A	c.(193-195)Tcc>Acc	p.S65T	TMEM74B_uc010gaa.1_Missense_Mutation_p.S65T	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	Homo sapiens transmembrane protein 74B (TMEM74B), mRNA.	65						integral to membrane	protein binding										TCCTCTGAGGAGAAGCAGGCA	0.622000														18			20		0	0	0.001216	0	0
RELB	5971	broad.mit.edu	37	19	45515450	45515450	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:45515450C>T	uc021uvq.1	+	3	551	c.420C>T	c.(418-420)ttC>ttT	p.F140F	RELB_uc021uvp.1_Silent_p.F137F	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	140	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCATGCGCTTCCGCTACGAGT	0.751000														21			9		0	0	0.000443	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	T	T	rs79388709		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:39274206C>T	uc002hvz.3	-	0	401	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(10)|p.R121R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000														19			4		0	0	0.000602	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36776216	36776216	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:36776216G>A	uc010tei.2	-	6	609	c.294C>T	c.(292-294)atC>atT	p.I98I	CCDC169-SOHLH2_uc001uvj.3_Silent_p.I21I	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	98					regulation of transcription, DNA-dependent	nucleus											CAACTAATAAGATGTCTATTT	0.408000														31			24		0	0	0.003954	0	0
KCNC3	3748	broad.mit.edu	37	19	50826854	50826854	+	Silent	SNP	G	A	A	rs147215054		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:50826854G>A	uc002pru.1	-	1	1651	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	KCNC3_uc002prt.1_Silent_p.I88I	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	452					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CCAGGAAGATGATGAGCAGCA	0.627000														12			8		0	0	0.000443	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744030	70744030	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:70744030G>A	uc003xyl.3	-	1	1586	c.879C>T	c.(877-879)gtC>gtT	p.V293V	SLCO5A1_uc010lzb.3_Silent_p.V293V|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.V293V|SLCO5A1_uc010lzc.2_Silent_p.V293V	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	293						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTTCTTTCTTGACATTGTCAT	0.413000														43			46		0	0	0.003610	0	0
OR2G6	391211	broad.mit.edu	37	1	248685026	248685026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:248685026C>T	uc001ien.1	+	0	79	c.79C>T	c.(79-81)Ctt>Ttt	p.L27F		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGAGGTTTCTTTTTGCCAT	0.458000														36			34		0	0	0.001485	0	0
BMP6	654	broad.mit.edu	37	6	7862700	7862700	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:7862700C>T	uc003mxu.4	+	3	1351	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	391					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CTACCCAGTCCCAGGACGTGG	0.577000														42			27		0	0	0.001512	0	0
OR7A5	26659	broad.mit.edu	37	19	14938426	14938426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:14938426G>A	uc002mzw.3	-	0	851	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	OR7A5_uc010xoa.2_Missense_Mutation_p.P210S	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CCAGTCAGGGGACCTCCACCC	0.423000														27			20		0	0	0.001216	0	0
UBD	10537	broad.mit.edu	37	6	29524029	29524029	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:29524029C>T	uc003nmo.3	-	1	350	c.126G>A	c.(124-126)aaG>aaA	p.K42K	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	42	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of apoptosis|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GCACAGGAACCTTGGTCTTAG	0.473000														34			28		0	0	0.001512	0	0
RIF1	55183	broad.mit.edu	37	2	152271359	152271359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:152271359C>T	uc002txm.3	+	3	367	c.206C>T	c.(205-207)tCg>tTg	p.S69L	RIF1_uc010fnv.2_Missense_Mutation_p.S33L|RIF1_uc002txn.3_Missense_Mutation_p.S69L|RIF1_uc002txl.3_Missense_Mutation_p.S69L|RIF1_uc002txo.3_Missense_Mutation_p.S69L|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	69					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGTCAAAACTCGGAGCTGAGT	0.333000														20			23		0	0	0.005443	0	0
MYO1D	4642	broad.mit.edu	37	17	30980903	30980903	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:30980903C>T	uc002hho.1	-	18	2565	c.2553G>A	c.(2551-2553)aaG>aaA	p.K851K	MYO1D_uc002hhp.1_Silent_p.K851K	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	851						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)			TGTATTTGTCCTTCCGTTTCA	0.413000														14			19		0	0	0.002299	0	0
C20orf144	128864	broad.mit.edu	37	20	32251364	32251365	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:32251364_32251365GG>AA	uc002wzs.2	+	1	213_214	c.153_154GG>AA	c.(151-156)ctggac>ctAAac	p.D52N	NECAB3_uc002wzl.3_5'Flank|NECAB3_uc002wzm.4_Intron|NECAB3_uc002wzn.4_Intron|NECAB3_uc002wzo.4_Intron|ACTL10_uc002wzt.3_5'Flank	NM_080825	NP_543015	Q9BQM9	CT144_HUMAN	Homo sapiens chromosome 20 open reading frame 144 (C20orf144), mRNA.	52										lung(1)	1						TTCTCCCCCTGGACAAGCGGCA	0.733000														15			12		0	0	0.004672	0	0
CCDC141	285025	broad.mit.edu	37	2	179702336	179702336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:179702336C>T	uc002une.2	-	22	3728	c.3610G>A	c.(3610-3612)Gaa>Aaa	p.E1204K	CCDC141_uc002unf.1_Missense_Mutation_p.E683K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	629							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCATATTCTTCCCCTGAGAGC	0.567000														45			14		0	0	0.003163	0	0
ZNF473	25888	broad.mit.edu	37	19	50542478	50542478	+	Missense_Mutation	SNP	G	A	A	rs139691184	byFrequency	TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:50542478G>A	uc002prn.3	+	2	307	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	ZNF473_uc002prm.3_Missense_Mutation_p.G24R|ZNF473_uc010ybo.2_Missense_Mutation_p.G12R	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	24	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GGAGCAGCTCGGGCTGGAACA	0.572000														66			32		0	0	0.003755	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141231641	141231641	+	Missense_Mutation	SNP	G	A	A	rs35318201		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:141231641G>A	uc003yvh.2	-	16	2782	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	TRAPPC9_uc003yvj.2_Missense_Mutation_p.R825W|TRAPPC9_uc010mel.1_Missense_Mutation_p.R246W|TRAPPC9_uc003yvi.1_Missense_Mutation_p.R816W	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	825					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ACGACCTGCCGAAAAGGACTG	0.507000														35			34		0	0	0.003271	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50682732	50682732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:50682732C>T	uc003bkb.1	-	0	669	c.157G>A	c.(157-159)Gag>Aag	p.E53K	TUBGCP6_uc010har.1_Missense_Mutation_p.E53K|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hau.1_Missense_Mutation_p.E53K	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	53					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGTTGAGTCTCATCTTGAAAA	0.522000														28			28		0	0	0.001786	0	0
EIF3D	8664	broad.mit.edu	37	22	36922128	36922128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:36922128G>A	uc003apr.3	-	1	206	c.41C>T	c.(40-42)tCa>tTa	p.S14L	EIF3D_uc011amt.2_Missense_Mutation_p.S14L|EIF3D_uc011ams.2_5'UTR	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	14						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						ACCCCAGCCTGAGGGGTTGTC	0.522000														38			18		0	0	0.000958	0	0
DSG3	1830	broad.mit.edu	37	18	29044140	29044140	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:29044140C>A	uc002kws.3	+	8	1175	c.1066C>A	c.(1066-1068)Cac>Aac	p.H356N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	356	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCTGAATTTCACCAATCAGT	0.383000														15			18		8.00594e-06	1.76963e-05	0.000958	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077266	57077266	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:57077266C>T	uc001njr.3	-	4	3231	c.2919G>A	c.(2917-2919)caG>caA	p.Q973Q	TNKS1BP1_uc001njs.3_Silent_p.Q973Q|TNKS1BP1_uc009ymd.1_Silent_p.Q424Q	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	973	Acidic.				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)				AGCTTCTGTCCTGGGCGTCAA	0.577000														12			57		0	0	0.003610	0	0
COL5A3	50509	broad.mit.edu	37	19	10081318	10081318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:10081318G>A	uc002mmq.1	-	53	4002	c.3916C>T	c.(3916-3918)Ccc>Tcc	p.P1306S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1306	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.A1305V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			gggggcccgggggcgccgggc	0.607000														4			3		0	0	0.004672	0	0
STAB1	23166	broad.mit.edu	37	3	52547956	52547956	+	Missense_Mutation	SNP	G	T	T	rs146570004		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:52547956G>T	uc003dej.3	+	31	3480	c.3406G>T	c.(3406-3408)Gac>Tac	p.D1136Y		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1136	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCAGCAGCTGGACTTGGTGCC	0.632000														51			31		1.36239e-07	3.02574e-07	0.003271	1	0
STAB2	55576	broad.mit.edu	37	12	104046452	104046452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:104046452G>A	uc001tjw.3	+	11	1562	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	459	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCTTGACTGGAAAGTCGGGG	0.403000														11			23		0	0	0.004656	0	0
KANK2	25959	broad.mit.edu	37	19	11283753	11283753	+	Silent	SNP	A	G	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:11283753A>G	uc002mqm.3	-	7	2218	c.2139T>C	c.(2137-2139)atT>atC	p.I713I	KANK2_uc021upe.1_Silent_p.I705I|KANK2_uc002mqo.4_Silent_p.I705I|KANK2_uc002mqp.1_Silent_p.I514I	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	705										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CGGTGAGCATAATAGGGCTGT	0.567000														15			23		0	0	0.003330	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021513	46021513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:46021513C>T	uc002zfn.4	+	1	1002	c.977C>T	c.(976-978)cCc>cTc	p.P326L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	331	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GTGCCCGTCCCCTCCTGCTGC	0.721000														30			16		0	0	0.006122	0	0
DCDC5	100506627	broad.mit.edu	37	11	31086668	31086668	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:31086668C>T	uc009yjk.1	-	6	744	c.675G>A	c.(673-675)gaG>gaA	p.E225E	DCDC5_uc009yjl.1_Silent_p.E153E|DCDC5_uc001msu.2_Silent_p.E396E	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	268					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CATTTAGCTCCTCTAGGTAGG	0.423000														1			17		0	0	0.004990	0	0
MYO16	23026	broad.mit.edu	37	13	109562393	109562393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:109562393C>T	uc010agk.2	+	15	2442	c.1820C>T	c.(1819-1821)tCa>tTa	p.S607L	MYO16_uc001vqt.1_Missense_Mutation_p.S585L|MYO16_uc001vqu.1_Missense_Mutation_p.S385L|MYO16_uc010tjh.1_Missense_Mutation_p.S97L	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	585	Myosin head-like 1.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.E607K(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGACTTGTTTCACAACCTCTT	0.338000														78			49		0	0	0.003610	0	0
STK38L	23012	broad.mit.edu	37	12	27465494	27465494	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:27465494C>T	uc001rhr.3	+	5	605	c.406C>T	c.(406-408)Cga>Tga	p.R136*	STK38L_uc010sjm.2_Nonsense_Mutation_p.R43*|STK38L_uc010sjn.2_5'Flank	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	136	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	ATP binding|actin binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GGCCCATATCCGAGCAGAAAG	0.338000														27			30		0	0	0.004289	0	0
MYH3	4621	broad.mit.edu	37	17	10541556	10541556	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:10541556T>C	uc002gmq.2	-	26	3621	c.3533A>G	c.(3532-3534)gAc>gGc	p.D1178G		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1178					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCCTCCAGGTCCCTGCGCAG	0.637000														6			18		0	0	0.000958	0	0
GSTT1	2952	broad.mit.edu	37	22	24379451	24379451	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:24379451C>T	uc002zze.4	-	2	314	c.261G>A	c.(259-261)caG>caA	p.Q87Q	GSTT1_uc010gug.3_Splice_Site|GSTT1_uc011ajl.2_5'UTR|GSTT1_uc010guh.3_Intron	NM_000853	NP_000844	P30711	GSTT1_HUMAN	Homo sapiens glutathione S-transferase theta 1 (GSTT1), mRNA.	87					glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	CCTGCAGGTCCTGAGGGTACC	0.607000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial					4			10		0	0	0.000673	0	0
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:43430713G>A	uc002ovl.4	-	4	964	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.R167C	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	289	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493000														124			130		0	0	0.003610	0	0
TG	7038	broad.mit.edu	37	8	134108579	134108579	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:134108579C>T	uc003ytw.3	+	42	7575	c.7534C>T	c.(7534-7536)Cag>Tag	p.Q2512*	TG_uc010mdw.3_Nonsense_Mutation_p.Q1271*|TG_uc011ljb.2_Nonsense_Mutation_p.Q881*|TG_uc011ljc.2_Nonsense_Mutation_p.Q645*|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2512					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGGAGTTCTCAGGACGACGG	0.577000														110			120		0	0	0.003610	0	0
SCAP	22937	broad.mit.edu	37	3	47470067	47470067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:47470067G>A	uc003crh.1	-	3	601	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	116					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AAAGGTGAACGAAATACATCT	0.557000														55			25		0	0	0.005443	0	0
GALNT14	79623	broad.mit.edu	37	2	31135139	31135139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:31135139G>A	uc002rns.3	-	14	2105	c.1465C>T	c.(1465-1467)Cct>Tct	p.P489S	GALNT14_uc002rnq.3_Missense_Mutation_p.P464S|GALNT14_uc010ymr.2_Missense_Mutation_p.P449S|GALNT14_uc002rnr.3_Missense_Mutation_p.P484S	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	484	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGGCGCCAGGGAACAAGGTG	0.552000														29			30		0	0	0.001512	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302156	128302156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:128302156C>T	uc003kuy.3	+	1	722	c.326C>T	c.(325-327)gCt>gTt	p.A109V	SLC27A6_uc003kuz.3_Missense_Mutation_p.A109V	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	109					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GACACGGTGGCTCTGCTGATG	0.552000														11			20		0	0	0.001216	0	0
CDH10	1008	broad.mit.edu	37	5	24593449	24593449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:24593449G>A	uc003jgr.2	-	1	657	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	51					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R51C(2)|p.R51R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CGTTTTTGACGATGGAGAATT	0.393000										HNSCC(23;0.051)				74			19		0	0	0.001523	0	0
CCDC158	339965	broad.mit.edu	37	4	77250083	77250083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:77250083G>A	uc003hkb.4	-	20	3121	c.2968C>T	c.(2968-2970)Ccc>Tcc	p.P990S		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	990	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CAACCAGAGGGATCTTCCCTG	0.448000														31			7		0	0	0.000443	0	0
LAMA1	284217	broad.mit.edu	37	18	7043305	7043305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:7043305C>T	uc002knm.3	-	7	1170	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	359	Laminin EGF-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATGCAAACCCCTCCTCCTCT	0.383000														53			41		0	0	0.002222	0	0
PLD2	5338	broad.mit.edu	37	17	4720032	4720032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:4720032C>T	uc002fzc.3	+	14	1699	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	PLD2_uc010vsj.2_Missense_Mutation_p.P382S|PLD2_uc002fzd.3_Missense_Mutation_p.P525S	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	525	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCTGGACCGGCCTTTCGAAGG	0.587000														66			16		0	0	0.000958	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927200	43927200	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:43927200G>T	uc010yny.2	+	7	1186	c.1103G>T	c.(1102-1104)gGa>gTa	p.G368V	PLEKHH2_uc002rte.3_Missense_Mutation_p.G368V|PLEKHH2_uc002rtf.3_Missense_Mutation_p.G367V	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	368						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTCCTCTTGGAAAGGGAAAT	0.378000														235			95		1.52804e-57	3.40982e-57	0.003610	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50189043	50189043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:50189043G>A	uc009zlk.2	-	7	2802	c.2600C>T	c.(2599-2601)cCc>cTc	p.P867L	NCKAP5L_uc001rvc.3_Missense_Mutation_p.P71L|NCKAP5L_uc001rvb.2_Missense_Mutation_p.P460L	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	863	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TGGGTCAGTGGGGCCAGGTAC	0.637000														21			42		0	0	0.002222	0	0
FATE1	89885	broad.mit.edu	37	X	150889963	150889963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:150889963C>T	uc004fex.3	+	2	415	c.331C>T	c.(331-333)Cat>Tat	p.H111Y		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	111						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CATACGTTTCCATTATGATCG	0.602000														0			11		0	0	0.001368	0	0
MYOCD	93649	broad.mit.edu	37	17	12656088	12656088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:12656088G>A	uc002gno.2	+	9	1782	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	MYOCD_uc002gnn.2_Missense_Mutation_p.E495K|MYOCD_uc002gnp.1_Missense_Mutation_p.E399K|MYOCD_uc002gnq.2_Missense_Mutation_p.E214K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	495	Ser-rich.				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			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)		GTGCACGGAGGAAAGTCTCAT	0.602000														2			9		0	0	0.000443	0	0
NDUFB9	4715	broad.mit.edu	37	8	125551344	125551344	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:125551344C>T	uc011lim.1	+	1	1	c.-84_splice	c.e1-1		TATDN1_uc003yre.2_5'Flank|TATDN1_uc003yrd.2_5'Flank|TATDN1_uc010mdm.2_5'Flank|NDUFB9_uc003yrg.4_Splice_Site	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.?(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GCAACTCCGCCCTTCCGGCTG	0.662000														27			30		0	0	0.001512	0	0
MUC16	94025	broad.mit.edu	37	19	9060089	9060089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:9060089C>T	uc002mkp.3	-	2	27561	c.27357G>A	c.(27355-27357)atG>atA	p.M9119I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9121	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						TAAGAGCGGTCATCTGTGAGT	0.498000														28			13		0	0	0.001368	0	0
COL4A2	1284	broad.mit.edu	37	13	111141854	111141854	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:111141854C>T	uc001vqx.3	+	35	3560	c.3271_splice	c.e35+1	p.G1091_splice		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1091	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.F1090F(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGGTGATTTCGGTGAGTGTT	0.507000														63			35		0	0	0.004878	0	0
COL9A2	1298	broad.mit.edu	37	1	40775612	40775612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:40775612C>T	uc001cfh.1	-	15	956	c.844G>A	c.(844-846)Gag>Aag	p.E282K	COL9A2_uc001cfi.1_Missense_Mutation_p.E101K	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	282	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX		p.D281D(2)|p.D281E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGACTCACCTCGTCACCCTTC	0.612000														62			23		0	0	0.004656	0	0
MYO3A	53904	broad.mit.edu	37	10	26455081	26455081	+	Missense_Mutation	SNP	G	A	A	rs56403976		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr10:26455081G>A	uc001isn.2	+	26	3445	c.3085G>A	c.(3085-3087)Gat>Aat	p.D1029N	MYO3A_uc009xko.1_Missense_Mutation_p.D1029N|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1029	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.L1028L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCTGGTCTCGATAACTGGGC	0.403000														15			66		0	0	0.003610	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698680	111698680	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:111698680C>T	uc022cct.1	+	0	724	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	ZCCHC16_uc004epo.1_Nonsense_Mutation_p.Q242*	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	242							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATCCAACACCAAGCCCTCTT	0.557000														8			41		0	0	0.002222	0	0
KCNK2	3776	broad.mit.edu	37	1	215260014	215260015	+	Missense_Mutation	DNP	TC	GA	GA			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:215260014_215260015TC>GA	uc001hkq.3	+	1	519_520	c.350_351TC>GA	c.(349-351)ctc>cGA	p.L117R	KCNK2_uc001hko.3_Missense_Mutation_p.L113R|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Missense_Mutation_p.L102R	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	117							outward rectifier potassium channel activity	p.P116Q(1)		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)	CTGGATGAACTCATTCAGGTAA	0.460000														49			51		0	0	0.004672	0	0
SRCAP	10847	broad.mit.edu	37	16	30748978	30748978	+	Silent	SNP	A	G	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:30748978A>G	uc002dze.1	+	33	8002	c.7617A>G	c.(7615-7617)tcA>tcG	p.S2539S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.S2334S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2539	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTCTGCCTCAGTCACTAATC	0.587000														106			54		0	0	0.003610	0	0
OR4D10	390197	broad.mit.edu	37	11	59245400	59245400	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:59245400C>T	uc001nnz.1	+	0	498	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCTCCCACTCCCTTTCTGCG	0.502000														10			34		0	0	0.003755	0	0
PDE11A	50940	broad.mit.edu	37	2	178879172	178879172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:178879172C>T	uc002ulq.3	-	1	1246	c.928G>A	c.(928-930)Gat>Aat	p.D310N	PDE11A_uc002ulr.3_Missense_Mutation_p.D60N|PDE11A_uc002ult.1_Missense_Mutation_p.D60N	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	310	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCGATTTCATCATTGAATCGT	0.393000									Primary Pigmented Nodular Adrenocortical Disease, Familial					18			7		0	0	0.001984	0	0
CA9	768	broad.mit.edu	37	9	35676143	35676143	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:35676143G>A	uc003zxo.4	+	3	729	c.687G>A	c.(685-687)tgG>tgA	p.W229*	C9orf100_uc003zxl.3_5'Flank	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	229	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCTGCACTGGGGGGCTGCAG	0.682000														8			14		0	0	0.002450	0	0
ABCA11P	79963	broad.mit.edu	37	4	420881	420881	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:420881A>G	uc003gae.3	-	4	560	c.25T>C	c.(25-27)Ttt>Ctt	p.F9L	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_3'UTR|ABCA11P_uc010ibd.2_Missense_Mutation_p.F9L					Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene (ABCA11P), non-coding RNA.																		ATATACATAAAGTTGAGCTGG	0.318000														12			4		0	0	0.000248	0	0
SMPD3	55512	broad.mit.edu	37	16	68405393	68405393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:68405393C>T	uc002ewa.3	-	2	1114	c.692G>A	c.(691-693)gGg>gAg	p.G231E	SMPD3_uc010cfe.3_Missense_Mutation_p.G231E|SMPD3_uc010vlh.2_Missense_Mutation_p.G231E	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	231					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GACAGGGTCCCCAGAGGCTGG	0.701000														6			9		0	0	0.004482	0	0
MEGF6	1953	broad.mit.edu	37	1	3425709	3425709	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:3425709C>T	uc001akl.3	-	11	1685	c.1458G>A	c.(1456-1458)caG>caA	p.Q486Q	MEGF6_uc001akk.3_Silent_p.Q381Q	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	486						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGTCGTCATCCTGGAAGAGTT	0.682000														9			4		0	0	0.000248	0	0
CPA3	1359	broad.mit.edu	37	3	148614335	148614335	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:148614335G>A	uc003ewm.3	+	10	1147	c.1095G>A	c.(1093-1095)tgG>tgA	p.W365*		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	365					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTTTAGACTGGGCTTATGACC	0.393000														45			19		0	0	0.001523	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138586	126138586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:126138586G>A	uc001uhe.1	+	8	2575	c.2567G>A	c.(2566-2568)gGg>gAg	p.G856E	TMEM132B_uc001uhf.1_Missense_Mutation_p.G368E	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	856						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCATGGAAGGGAAGAATAAG	0.517000														2			21		0	0	0.001216	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10567374	10567374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:10567374C>T	uc002czw.3	+	7	1624	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	ATF7IP2_uc010uyp.2_Missense_Mutation_p.P33S|ATF7IP2_uc002czu.3_Missense_Mutation_p.P489S|ATF7IP2_uc002czv.3_Missense_Mutation_p.P489S|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TAGCAATTCTCCCAATGCTGA	0.289000														101			49		0	0	0.003610	0	0
PRKD3	23683	broad.mit.edu	37	2	37518100	37518100	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:37518100A>G	uc002rqd.3	-	2	1025	c.470T>C	c.(469-471)cTc>cCc	p.L157P	PRKD3_uc002rqf.1_Missense_Mutation_p.L157P	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	157					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.L157L(1)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATGTACATAGAGAGTATGTGG	0.388000														16			26		0	0	0.004656	0	0
ACSS3	79611	broad.mit.edu	37	12	81568625	81568625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:81568625G>A	uc001szl.1	+	7	1248	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E	ACSS3_uc001szm.1_Missense_Mutation_p.G385E|ACSS3_uc001szn.1_Missense_Mutation_p.G68E	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	386						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCAGAGCATGGAGTAGCTGCC	0.488000														2			17		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179641179	179641179	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:179641179G>A	uc021vsy.1	-	27	5637	c.5412C>T	c.(5410-5412)tcC>tcT	p.S1804S	TTN_uc021vsz.1_Silent_p.S1758S|TTN_uc021vta.1_Silent_p.S1758S|TTN_uc021vtb.1_Silent_p.S1758S|TTN_uc002unb.2_Silent_p.S1804S|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1804							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)			CAGGCAATTGGGATTCTTCCA	0.403000														43			41		0	0	0.003610	0	0
ADORA1	134	broad.mit.edu	37	1	203098282	203098282	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:203098282C>A	uc010pqh.1	+	1	449	c.412C>A	c.(412-414)Cgc>Agc	p.R138S	ADORA1_uc001gzf.1_Missense_Mutation_p.R105S|ADORA1_uc001gze.1_Missense_Mutation_p.R105S|ADORA1_uc010pqg.1_5'UTR|ADORA1_uc009xak.1_5'UTR	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	105					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGCTGTGGACCGCTACCTCCG	0.597000														91			5		0.00116845	0.00252893	0.001168	1	0
BC024008	0	broad.mit.edu	37	12	98126975	98126975	+	RNA	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:98126975C>T	uc001tfc.1	-	4		c.1082G>A			BC024008_uc001tfd.3_Non-coding_Transcript					Homo sapiens cDNA FLJ25775 fis, clone TST06543.																		CTGAGATATCCATCTGTCGTC	0.468000														4			3		0	0	0.004672	0	0
CCDC39	339829	broad.mit.edu	37	3	180366002	180366002	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:180366002T>C	uc010hxe.3	-	9	1428	c.1313A>G	c.(1312-1314)cAa>cGa	p.Q438R	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	438					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATCCAGTTTTTGTAACTGATG	0.343000														22			23		0	0	0.002299	0	0
CD8B	926	broad.mit.edu	37	2	87085363	87085363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:87085363C>T	uc002srw.3	-	1	279	c.220G>A	c.(220-222)Gat>Aat	p.D74N	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Missense_Mutation_p.D74N|CD8B_uc002sry.3_Missense_Mutation_p.D74N|CD8B_uc010fgt.3_Missense_Mutation_p.D74N|CD8B_uc002srz.3_Missense_Mutation_p.D74N|CD8B_uc010yto.2_Missense_Mutation_p.D74N	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	74	Ig-like V-type.				T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TTTGCGGAATCCCAGAGGGCC	0.542000														28			36		0	0	0.001287	0	0
NOTCH2	4853	broad.mit.edu	37	1	120496243	120496243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:120496243G>A	uc001eik.3	-	13	2585	c.2288C>T	c.(2287-2289)tCg>tTg	p.S763L	NOTCH2_uc001eil.3_Missense_Mutation_p.S763L|NOTCH2_uc021osy.1_Missense_Mutation_p.S724L|NOTCH2_uc001eim.4_Missense_Mutation_p.S680L	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	763	EGF-like 20; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCATGGATTCGAAAGGCATTC	0.403000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					208			282		0	0	0.003610	0	0
ODZ2	57451	broad.mit.edu	37	5	167645808	167645808	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:167645808A>T	uc010jjd.3	+	22	4885	c.4885A>T	c.(4885-4887)Atc>Ttc	p.I1629F	ODZ2_uc003lzr.4_Missense_Mutation_p.I1399F|ODZ2_uc003lzt.4_Missense_Mutation_p.I1002F|ODZ2_uc010jje.3_Missense_Mutation_p.I893F	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTCCCTGAAGATCCGTCGGGA	0.507000														67			24		0	0	0.005443	0	0
ZNF417	147687	broad.mit.edu	37	19	58420069	58420069	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:58420069C>A	uc002qqq.3	-	2	1776	c.1577G>T	c.(1576-1578)gGa>gTa	p.G526V	ZNF417_uc010yhm.2_Missense_Mutation_p.G483V|ZNF417_uc002qqr.3_Missense_Mutation_p.G525V	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AAAGGATTTTCCACATTCACT	0.388000														58			14		1.3612e-06	3.01594e-06	0.003163	1	0
UMODL1	89766	broad.mit.edu	37	21	43547863	43547863	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:43547863C>T	uc002zag.1	+	18	3996	c.3996C>T	c.(3994-3996)tcC>tcT	p.S1332S	UMODL1_uc002zad.1_Silent_p.S1132S|UMODL1_uc002zae.1_Silent_p.S1260S|UMODL1_uc002zaf.1_Silent_p.S1204S|UMODL1_uc002zal.1_Silent_p.S154S|UMODL1_uc010gpa.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1204						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						GGATCTTTTCCTTTATCAACG	0.493000														24			22		0	0	0.002780	0	0
MAP1S	55201	broad.mit.edu	37	19	17831749	17831749	+	Silent	SNP	C	T	T	rs149771755		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:17831749C>T	uc002nhe.1	+	1	132	c.123C>T	c.(121-123)atC>atT	p.I41I	MAP1S_uc010eaz.2_Intron|MAP1S_uc010xpv.1_Silent_p.I15I	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	41	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CACCAGGCATCCGGTCTTGGG	0.582000														26			46		0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36874065	36874065	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:36874065A>T	uc003cgj.3	-	20	7125	c.6877T>A	c.(6877-6879)Ttc>Atc	p.F2293I		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2293					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAGAGAAGGAAAGCTTGCATG	0.493000														17			21		0	0	0.001216	0	0
XRN1	54464	broad.mit.edu	37	3	142075782	142075782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:142075782G>A	uc003eus.3	-	30	3711	c.3644C>T	c.(3643-3645)tCc>tTc	p.S1215F	XRN1_uc010huu.3_Missense_Mutation_p.S681F|XRN1_uc003eut.3_Missense_Mutation_p.S1215F|XRN1_uc003euu.3_Missense_Mutation_p.S1215F	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1215					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGATTGAGGGGAATGGTTGAG	0.418000														19			20		0	0	0.001216	0	0
CCBL2	56267	broad.mit.edu	37	1	89414899	89414899	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:89414899A>C	uc001dmp.2	-	10	1393	c.1016T>G	c.(1015-1017)tTt>tGt	p.F339C	CCBL2_uc001dmq.2_Missense_Mutation_p.F305C|CCBL2_uc001dmr.2_Missense_Mutation_p.F175C	NM_001008661	NP_001008662	Q6YP21	KAT3_HUMAN	Homo sapiens cysteine conjugate-beta lyase 2 (CCBL2), transcript variant 1, mRNA.	339					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAAAGAATTAAAGTAACATTC	0.388000														19			12		0	0	0.001368	0	0
AIRE	326	broad.mit.edu	37	21	45708302	45708302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:45708302G>A	uc002zei.2	+	4	740	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	205	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		AGCCCGAGGGGCCGTGGAGGG	0.627000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					54			40		0	0	0.001951	0	0
TTN	7273	broad.mit.edu	37	2	179584982	179584982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:179584982C>T	uc021vsy.1	-	77	19880	c.19655G>A	c.(19654-19656)cGa>cAa	p.R6552Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3213Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7479	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACGAATCGTGGAGGTTC	0.453000														24			13		0	0	0.001368	0	0
TRPC6	7225	broad.mit.edu	37	11	101323787	101323787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:101323787G>A	uc001pgk.4	-	12	3120	c.2695C>T	c.(2695-2697)Ctt>Ttt	p.L899F	TRPC6_uc009ywy.3_Missense_Mutation_p.L783F	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	899					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTTTCTTCAAGGAGTTCATAG	0.378000														12			40		0	0	0.001485	0	0
PLG	5340	broad.mit.edu	37	6	161139847	161139848	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:161139847_161139848CC>TT	uc003qtm.4	+	8	1185_1186	c.1073_1074CC>TT	c.(1072-1074)tcc>tTT	p.S358F		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	358					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.V357E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCCCAGTATCCACGGAACAAT	0.505000														6			14		0	0	0.004672	0	0
BMP6	654	broad.mit.edu	37	6	7845396	7845396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:7845396C>T	uc003mxu.4	+	1	866	c.688C>T	c.(688-690)Cct>Tct	p.P230S		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	230					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GGAGTTCTCCCCTCGTCAGCG	0.483000														56			47		0	0	0.003610	0	0
FN1	2335	broad.mit.edu	37	2	216262452	216262452	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:216262452C>T	uc002vfa.3	-	21	3734	c.3468G>A	c.(3466-3468)ctG>ctA	p.L1156L	FN1_uc002vfc.3_Silent_p.L1156L|FN1_uc002vfe.3_Silent_p.L1156L|FN1_uc002vff.3_Silent_p.L1156L|FN1_uc002vfg.3_Silent_p.L1156L|FN1_uc002vfh.3_Silent_p.L1156L|FN1_uc002vfi.3_Silent_p.L1156L|FN1_uc002vfj.3_Silent_p.L1156L|FN1_uc002vfb.3_Silent_p.L1156L	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1156	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCCATCTCTCAGGACTTGGA	0.438000														36			36		0	0	0.005524	0	0
GRIN2C	2905	broad.mit.edu	37	17	72848636	72848636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:72848636G>A	uc002jlt.1	-	2	670	c.514C>T	c.(514-516)Cac>Tac	p.H172Y	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.H172Y|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	172					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TGGCCCGGGTGCAGGCTGGTG	0.692000														3			6		0	0	0.003080	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001275	13001275	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:13001275C>T	uc001auq.2	-	2	494	c.408G>A	c.(406-408)caG>caA	p.Q136Q	PRAMEF6_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	136										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGACAGTCCTGCACTGGTG	0.498000														421			144		0	0	0.003610	0	0
WEE2	494551	broad.mit.edu	37	7	141423004	141423004	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:141423004G>A	uc003vwn.2	+	5	1357	c.951G>A	c.(949-951)aaG>aaA	p.K317K	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	317	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CAAAACTCAAGGACATCCTTC	0.453000														54			46		0	0	0.003610	0	0
NPSR1	387129	broad.mit.edu	37	7	34698164	34698164	+	Missense_Mutation	SNP	C	T	T	rs116240309	byFrequency	TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:34698164C>T	uc003teh.1	+	0	268	c.140C>T	c.(139-141)tCc>tTc	p.S47F	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.S47F|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S47F|NPSR1_uc003tei.1_Missense_Mutation_p.S47F|NPSR1_uc010kww.1_Missense_Mutation_p.S47F|NPSR1_uc011kar.1_Missense_Mutation_p.S47F	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	47						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.S47P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTCTACTACTCCTTTAAGGTA	0.458000														18			18		0	0	0.001523	0	0
C11orf58	10944	broad.mit.edu	37	11	16776499	16776499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:16776499G>A	uc001mmk.2	+	4	578	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_014267	NP_055082	O00193	SMAP_HUMAN	Homo sapiens chromosome 11 open reading frame 58 (C11orf58), mRNA.	134	Asp-rich.									NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						TGAAAGTCCAGATGATTCTGA	0.433000														3			20		0	0	0.000958	0	0
FLT3	2322	broad.mit.edu	37	13	28631577	28631577	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:28631577A>C	uc001urw.3	-	3	473	c.391T>G	c.(391-393)Ttg>Gtg	p.L131V	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.L131V	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	131					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTCATTTTCAAAATGACCATG	0.328000			"""Mis, O"""		"""AML, ALL"""									36			30		0	0	0.002096	0	0
KCNA1	3736	broad.mit.edu	37	12	5020678	5020678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:5020678G>A	uc001qnh.3	+	1	1239	c.134G>A	c.(133-135)gGg>gAg	p.G45E	KCNA1_uc021qts.1_Missense_Mutation_p.G45E	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	45					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AACATCTCCGGGCTGCGCTTC	0.672000														20			21		0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9085016	9085016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:9085016G>A	uc002mkp.3	-	0	7003	c.6799C>T	c.(6799-6801)Cca>Tca	p.P2267S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2267	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						GTCTTTTCTGGGAAATGTGAG	0.433000														15			13		0	0	0.001368	0	0
RFX5	5993	broad.mit.edu	37	1	151316936	151316936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:151316936G>A	uc001exv.1	-	6	644	c.430C>T	c.(430-432)Cct>Tct	p.P144S	RFX5_uc001exw.1_Missense_Mutation_p.P144S|RFX5_uc010pcx.1_Missense_Mutation_p.P104S	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	144						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGATGTCAGGGAAGATCTCT	0.557000														8			27		0	0	0.004656	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698565	96698565	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr10:96698565C>T	uc001kka.4	+	0	151	c.126C>T	c.(124-126)atC>atT	p.I42I	CYP2C9_uc009xut.3_Silent_p.I42I|CYP2C9_uc001kjz.3_Silent_p.I42I	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	42					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTGGAAATATCCTACAGATAG	0.433000														11			34		0	0	0.004289	0	0
GABRP	2568	broad.mit.edu	37	5	170239142	170239142	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:170239142G>A	uc003mau.3	+	9	1401	c.1203G>A	c.(1201-1203)agG>agA	p.R401R	GABRP_uc011dev.2_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	401						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)			AGATGGGCAGGATTGTTGATT	0.383000														37			11		0	0	0.000673	0	0
SALL1	6299	broad.mit.edu	37	16	51173852	51173852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:51173852G>A	uc021tif.1	-	1	2312	c.1990C>T	c.(1990-1992)Ccg>Tcg	p.P664S	SALL1_uc021tid.1_Missense_Mutation_p.P664S|SALL1_uc021tie.1_Missense_Mutation_p.P761S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	761					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L663F(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACTCTGAGCGGGGGCATAGCA	0.552000														6			19		0	0	0.001216	0	0
SASH1	23328	broad.mit.edu	37	6	148865456	148865456	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:148865456C>T	uc003qme.1	+	17	3325	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	SASH1_uc011eeb.1_Silent_p.G711G|SASH1_uc003qmf.1_Silent_p.G360G	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	950							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTCTGGAGGGCCACAGAAAAG	0.552000														3			19		0	0	0.001216	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446576	107446576	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:107446576G>A	uc002tdq.3	-	4	1383	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	ST6GAL2_uc002tdr.3_Nonsense_Mutation_p.Q422*|ST6GAL2_uc002tds.3_Nonsense_Mutation_p.Q422*	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	422					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGTTCTCCTGGATAATATCC	0.398000														70			26		0	0	0.003330	0	0
GRPR	2925	broad.mit.edu	37	X	16142206	16142206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:16142206C>T	uc004cxj.3	+	0	783	c.130C>T	c.(130-132)Cct>Tct	p.P44S		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	44					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTATGTCATCCCTGCAGTTTA	0.498000											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		3			46		0	0	0.003610	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003330	75003330	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:75003330G>A	uc004ecj.2	-	0	1750	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	519										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGGGTCAAGGAAAAACATGA	0.458000														3			16		0	0	0.006122	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30691757	30691757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:30691757G>A	uc010gvu.3	-	3	599	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc003ahi.3_Missense_Mutation_p.H23Y|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc003ahk.4_Missense_Mutation_p.H165Y	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	165	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AACATCTCATGGAATGGGAAC	0.607000														12			13		0	0	0.002450	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409601	153409601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:153409601C>T	uc010pdx.2	-	2	350	c.272G>A	c.(271-273)gGg>gAg	p.G91E		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTTATATCCCCCAGCAAGGA	0.478000														82			36		0	0	0.003755	0	0
IGSF9	57549	broad.mit.edu	37	1	159897984	159897984	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:159897984C>T	uc001fur.2	-	18	3392	c.3194G>A	c.(3193-3195)tGg>tAg	p.W1065*	IGSF9_uc001fuq.2_Nonsense_Mutation_p.W1049*|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Nonsense_Mutation_p.W211*	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1065						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTCGGGGCCATCTCTCAGG	0.667000														25			36		0	0	0.001951	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459540	107459540	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:107459540G>A	uc002tdq.3	-	1	1013	c.894C>T	c.(892-894)gtC>gtT	p.V298V	ST6GAL2_uc002tdr.3_Silent_p.V298V|ST6GAL2_uc002tds.3_Silent_p.V298V	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	298					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGACATGACGACAGCGCAGC	0.687000														15			4		0	0	0.001984	0	0
DSG1	1828	broad.mit.edu	37	18	28934521	28934521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:28934521G>A	uc002kwp.3	+	14	2574	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	DSG1_uc010xbp.2_Missense_Mutation_p.E147K	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	788					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.Q787*(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCTTCCTCAGGAAACAGAGCC	0.488000														34			31		0	0	0.002836	0	0
OR52E4	390081	broad.mit.edu	37	11	5905702	5905702	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:5905702C>T	uc010qzs.2	+	0	180	c.180C>T	c.(178-180)ccC>ccT	p.P60P	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	60					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)		TACACCAGCCCATGTTCTACT	0.433000														11			56		0	0	0.003610	0	0
UNC93A	54346	broad.mit.edu	37	6	167708178	167708178	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:167708178C>T	uc003qvq.3	+	1	436	c.261C>T	c.(259-261)ttC>ttT	p.F87F	UNC93A_uc003qvr.3_Silent_p.F87F	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	87						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)		GCAACTTCTTCGCCAGCTGGT	0.622000														16			64		0	0	0.003610	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140776	143140776	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:143140776C>T	uc011ktg.2	+	0	231	c.231C>T	c.(229-231)acC>acT	p.T77T	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	77					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGGGTAAGACCATTTATGTTT	0.488000														14			23		0	0	0.001882	0	0
ALPK2	115701	broad.mit.edu	37	18	56246693	56246693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:56246693C>T	uc002lhj.4	-	3	1529	c.1315G>A	c.(1315-1317)Gga>Aga	p.G439R		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	439							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAAGACGTTCCATCCTGGTGA	0.517000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			30		0	0	0.002445	0	0
ZFP42	132625	broad.mit.edu	37	4	188924602	188924602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:188924602C>T	uc003izh.1	+	3	1049	c.641C>T	c.(640-642)cCc>cTc	p.P214L	ZFP42_uc003izi.1_Missense_Mutation_p.P214L|ZFP42_uc021xvm.1_Missense_Mutation_p.P214L	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	214					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)		ATTCATGGTCCCCGAGACCAC	0.502000														29			32		0	0	0.002836	0	0
ASMTL	8623	broad.mit.edu	37	X	1536944	1536944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:1536944C>T	uc004cpx.2	-	10	1581	c.1444G>A	c.(1444-1446)Gac>Aac	p.D482N	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.D466N|ASMTL_uc011mhe.2_Missense_Mutation_p.D406N|ASMTL_uc011mhf.2_Missense_Mutation_p.D424N	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	482	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTGGGAGGTCAAACACAGTC	0.632000														14			11		0	0	0.000673	0	0
EPHA3	2042	broad.mit.edu	37	3	89480399	89480399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:89480399G>A	uc003dqy.3	+	12	2461	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N	EPHA3_uc021xbf.1_Missense_Mutation_p.D746N	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	746	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTTCACCGAGACCTCGCTGC	0.498000										TSP Lung(6;0.00050)				12			17		0	0	0.004990	0	0
FLRT3	23767	broad.mit.edu	37	20	14307027	14307027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:14307027G>A	uc021war.1	-	0	1126	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.P376S|FLRT3_uc002wow.2_Missense_Mutation_p.P376S	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	376					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CCTTGGGCAGGATACACTGTG	0.468000														64			71		0	0	0.003610	0	0
C2orf71	388939	broad.mit.edu	37	2	29296844	29296844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:29296844C>T	uc002rmt.2	-	0	284	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	95					response to stimulus|visual perception	photoreceptor outer segment		p.G95R(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGTTTTGGTTCCTGGGATCAG	0.493000														76			39		0	0	0.003214	0	0
DNER	92737	broad.mit.edu	37	2	230231825	230231825	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:230231825C>T	uc002vpv.3	-	11	2013	c.1866G>A	c.(1864-1866)tgG>tgA	p.W622*		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	622					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GCCCGGACTTCCATTGGAGGT	0.483000														14			17		0	0	0.001882	0	0
TRIO	7204	broad.mit.edu	37	5	14488291	14488291	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:14488291C>T	uc003jff.3	+	47	7560	c.7554C>T	c.(7552-7554)gcC>gcT	p.A2518A	TRIO_uc003jfg.3_Intron|TRIO_uc003jfh.1_Silent_p.A2167A	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2518					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCACGCGGCCCCTGGCAAGG	0.721000														4			7		0	0	0.001984	0	0
GPS2	2874	broad.mit.edu	37	17	7221919	7221919	+	Silent	SNP	A	G	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:7221919A>G	uc002gga.1	-	22	3766	c.3759T>C	c.(3757-3759)tcT>tcC	p.S1253S	GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Silent_p.S1251S	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCAGCCCCCCAGAGCTGTCCA	0.617000														14			3		0	0	0.004672	0	0
MORC1	27136	broad.mit.edu	37	3	108723928	108723928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:108723928C>T	uc003dxl.3	-	18	2089	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	MORC1_uc011bhn.2_Missense_Mutation_p.E647K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	668					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						TGGGATCTCTCAGCTAGTTTG	0.333000														27			31		0	0	0.002445	0	0
SLC4A4	8671	broad.mit.edu	37	4	72363279	72363279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:72363279G>A	uc010iic.3	+	15	2153	c.2036G>A	c.(2035-2037)gGa>gAa	p.G679E	SLC4A4_uc003hfy.3_Missense_Mutation_p.G679E|SLC4A4_uc010iib.3_Missense_Mutation_p.G679E|SLC4A4_uc003hfz.3_Missense_Mutation_p.G679E|SLC4A4_uc003hgc.4_Missense_Mutation_p.G635E|SLC4A4_uc010iid.3_Intron	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	679						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AAATACGGAGGAAACCTCGTC	0.373000														31			13		0	0	0.002450	0	0
C2orf47	79568	broad.mit.edu	37	2	200824584	200824584	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:200824584C>T	uc002uvm.3	+	3	952	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_024520	NP_078796	Q8WWC4	CB047_HUMAN	Homo sapiens chromosome 2 open reading frame 47 (C2orf47), mRNA.	210						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						GAGACATCTCCATTTACTATG	0.343000														21			31		0	0	0.004878	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800683	70800683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:70800683C>T	uc003tvy.3	+	1	386	c.386C>T	c.(385-387)tCa>tTa	p.S129L	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	129						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAAAAAATTTCACTGGACCGT	0.502000														34			11		0	0	0.001855	0	0
TRIM54	57159	broad.mit.edu	37	2	27505713	27505713	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:27505713G>A	uc002rjo.3	+	0	417	c.114G>A	c.(112-114)gtG>gtA	p.V38V	TRIM54_uc002rjn.3_Silent_p.V38V	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	38					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCAGTGGTGATCCTGCCCT	0.587000														75			70		0	0	0.003610	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962908	69962908	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:69962908T>C	uc003heg.4	+	0	716	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L	UGT2B7_uc010ihq.3_Missense_Mutation_p.F224L	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	224					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGACTTTTGGTTCGAAATATT	0.328000														34			28		0	0	0.005443	0	0
KLHL11	55175	broad.mit.edu	37	17	40010189	40010189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:40010189G>A	uc002hyf.1	-	1	1936	c.1930C>T	c.(1930-1932)Ctt>Ttt	p.L644F		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	644						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				ATAGGAGGAAGAAGCATCCAC	0.468000														40			21		0	0	0.001523	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661232	8661232	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:8661232G>A	uc002mkj.1	-	9	1423	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	ADAMTS10_uc002mkk.1_Silent_p.G15G	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	383	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTGTGGCCAGGCCAATGTCCT	0.672000														11			5		0	0	0.000602	0	0
ITGB3	3690	broad.mit.edu	37	17	45368378	45368378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:45368378C>T	uc002ilj.3	+	8	1204	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	ITGB3_uc002ili.1_Missense_Mutation_p.S395F|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	395					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TTGTCTCTATCCTTCAATGCC	0.502000														19			50		0	0	0.003610	0	0
FAM5C	339479	broad.mit.edu	37	1	190067958	190067958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:190067958C>T	uc001gse.1	-	7	1723	c.1491G>A	c.(1489-1491)atG>atA	p.M497I	FAM5C_uc010pot.1_Missense_Mutation_p.M395I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	497						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)					GCAGATATTTCATCTCGAGAT	0.498000														73			68		0	0	0.003610	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34505	34505	+	RNA	SNP	A	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrGL000241.1:34505A>C	uc011mgv.2	-	2		c.379T>G								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CAACATATCAAGCTGGGTttc	0.289000														29			4		0	0	0.000602	0	0
ZNF709	163051	broad.mit.edu	37	19	12637951	12637951	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:12637951A>G	uc002mty.3	-	3	1181	c.971T>C	c.(970-972)gTt>gCt	p.V324A	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						ATGCTTTCGAACATAACTGGG	0.363000														13			20		0	0	0.000958	0	0
MED15	51586	broad.mit.edu	37	22	20937220	20937220	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:20937220C>T	uc002zsp.3	+	10	1583	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	MED15_uc002zsq.3_Silent_p.F461F|MED15_uc010gso.3_Silent_p.F444F|MED15_uc002zsr.3_Silent_p.F435F|MED15_uc011ahs.2_Silent_p.F435F|MED15_uc002zss.3_Silent_p.F380F|MED15_uc011ahu.2_Silent_p.F211F|MED15_uc002zst.3_Silent_p.F117F|MED15_uc002zsu.3_Silent_p.F106F	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	501	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CACAGAACTTCAGTGTCCCCT	0.612000														28			9		0	0	0.000443	0	0
GRID2	2895	broad.mit.edu	37	4	94128560	94128560	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:94128560G>A	uc011cdt.2	+	4	999	c.741G>A	c.(739-741)gtG>gtA	p.V247V	GRID2_uc010ikx.3_Silent_p.V247V|GRID2_uc011cdu.2_Silent_p.V152V|GRID2_uc011cdv.1_Non-coding_Transcript|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	247					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			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)	TCTAGGTTGTGGAGACTAATT	0.308000														48			17		0	0	0.001523	0	0
ZNF628	89887	broad.mit.edu	37	19	55993031	55993031	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:55993031C>T	uc021vbv.1	+	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ZNF628_uc002qld.2_Silent_p.F153F	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	153						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCAAGGCCTTCAAGAACTCGT	0.662000														4			9		0	0	0.000673	0	0
CALCR	799	broad.mit.edu	37	7	93055823	93055823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:93055823G>A	uc003umv.2	-	15	1672	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R424C|CALCR_uc003umw.2_Missense_Mutation_p.R424C	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	440					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CGAGCAGAGCGGTTGGAGGGG	0.582000														37			23		0	0	0.002780	0	0
TNN	63923	broad.mit.edu	37	1	175116091	175116091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:175116091G>A	uc001gkl.1	+	18	3897	c.3784G>A	c.(3784-3786)Gga>Aga	p.G1262R		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1262	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTTGGAAAGGACATGAATT	0.507000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			26		0	0	0.004656	0	0
DEFB121	245934	broad.mit.edu	37	20	29993946	29993946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:29993946G>A	uc002wvv.2	-	0	124	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	DEFB121_uc021wbq.1_Intron	NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	Homo sapiens defensin, beta 121 (DEFB121), transcript variant 1, mRNA.	4					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCAGAAGAAGGAGCTTCATG	0.493000														27			15		0	0	0.003163	0	0
BPIFB4	149954	broad.mit.edu	37	20	31673890	31673890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:31673890G>A	uc010zue.2	+	4	861	c.846G>A	c.(844-846)atG>atA	p.M282I		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	282						cytoplasm|extracellular region	lipid binding										GGCTGACCATGGACCGCACGG	0.587000														58			57		0	0	0.003610	0	0
SPAG16	79582	broad.mit.edu	37	2	214239754	214239754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:214239754G>A	uc002veq.3	+	8	945	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	SPAG16_uc010fuz.2_Missense_Mutation_p.E136K|SPAG16_uc002ver.3_Missense_Mutation_p.E231K|SPAG16_uc010zjk.2_Missense_Mutation_p.E191K	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	285					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)		TCGTGAAAAAGAAAATGCACC	0.313000														9			9		0	0	0.000443	0	0
NTN4	59277	broad.mit.edu	37	12	96104261	96104261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:96104261G>A	uc001tei.3	-	4	1587	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	NTN4_uc009ztf.3_Missense_Mutation_p.R380C|NTN4_uc009ztg.3_Missense_Mutation_p.R343C	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	380	Laminin EGF-like 2.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CGCAGGTCACGATAGAAGCCT	0.488000														16			24		0	0	0.002299	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182898872	182898872	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:182898872G>A	uc001gpu.3	-	5	1377	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	SHCBP1L_uc001gpv.3_Silent_p.F245F|SHCBP1L_uc010pnz.2_Silent_p.F222F|SHCBP1L_uc001gpw.3_Silent_p.F84F	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	436										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TTCTTGGAAAGAAAGGTCCAT	0.294000														26			10		0	0	0.000673	0	0
ASB4	51666	broad.mit.edu	37	7	95115433	95115433	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:95115433C>T	uc011kij.2	+	0	221	c.150C>T	c.(148-150)gtC>gtT	p.V50V	ASB4_uc003unx.3_Silent_p.V50V	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	50					intracellular signal transduction			p.E49Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTTTGAAGTCGAAGATGAGA	0.333000														28			17		0	0	0.000958	0	0
ZFP112	7771	broad.mit.edu	37	19	44891168	44891168	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:44891168G>A	uc010xxa.2	-	3	1303	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.S413S	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CTTGAAGAACGGAGCTTGAAC	0.493000														24			31		0	0	0.002096	0	0
MECOM	2122	broad.mit.edu	37	3	169099121	169099121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:169099121G>A	uc011bpj.1	-	1	632	c.229C>T	c.(229-231)Cct>Tct	p.P77S	MECOM_uc003ffl.2_Missense_Mutation_p.P49S|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.P77S|MECOM_uc011bpl.1_Missense_Mutation_p.P77S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	77							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AACTCAGCAGGAATGGGGATA	0.478000														79			32		0	0	0.002836	0	0
DENND2C	163259	broad.mit.edu	37	1	115151336	115151336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:115151336G>A	uc001efd.1	-	9	2230	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.P453S	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	510	UDENN.									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)		ATGACCTGGGGAATATAGCTT	0.463000														38			43		0	0	0.003214	0	0
TTN	7273	broad.mit.edu	37	2	179640374	179640374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:179640374G>A	uc021vsy.1	-	27	6442	c.6217C>T	c.(6217-6219)Cct>Tct	p.P2073S	TTN_uc021vsz.1_Missense_Mutation_p.P2027S|TTN_uc021vta.1_Missense_Mutation_p.P2027S|TTN_uc021vtb.1_Missense_Mutation_p.P2027S|TTN_uc002unb.2_Missense_Mutation_p.P2073S|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2073							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)			TCCATACTAGGACTTAGTTCA	0.458000														51			21		0	0	0.001523	0	0
GPC5	2262	broad.mit.edu	37	13	92345703	92345703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:92345703G>A	uc010tif.2	+	2	954	c.588G>A	c.(586-588)atG>atA	p.M196I		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	196						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R195L(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCATCCGGATGGCTCGCCGGG	0.498000														41			40		0	0	0.001485	0	0
GPR50	9248	broad.mit.edu	37	X	150349283	150349283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:150349283C>T	uc010ntg.2	+	1	1366	c.1228C>T	c.(1228-1230)Cac>Tac	p.H410Y		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	410	Pro-rich.				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)					TGTCTTTAGCCACTCCAAGGC	0.602000														8			63		0	0	0.003610	0	0
CHRM3	1131	broad.mit.edu	37	1	240071054	240071054	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:240071054G>A	uc021plc.1	+	0	303	c.303G>A	c.(301-303)acG>acA	p.T101T	CHRM3_uc001hyp.3_Silent_p.T101T	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	101					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AGCTGAAGACGGTCAACAACT	0.468000														26			21		0	0	0.001216	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539831	169539831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:169539831C>T	uc003fgb.3	+	0	122	c.122C>T	c.(121-123)cCt>cTt	p.P41L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	41										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACTGCCATTCCTTTGGAGATC	0.383000														63			22		0	0	0.001882	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671825	77671825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:77671825G>A	uc021rks.1	-	55	9731	c.9464C>T	c.(9463-9465)cCt>cTt	p.P3155L	MYCBP2_uc010aev.3_Missense_Mutation_p.P2521L|MYCBP2_uc001vkg.1_Missense_Mutation_p.P640L|MYCBP2_uc010aew.3_Missense_Mutation_p.P503L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAAGGGAAGAGGAGACTTAGA	0.403000														42			47		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179577493	179577493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:179577493C>T	uc021vsy.1	-	90	23752	c.23527G>A	c.(23527-23529)Gga>Aga	p.G7843R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4504R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8770	Ig-like 60.						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)			GTATATTCTCCACTTTGTGAT	0.413000														25			30		0	0	0.001786	0	0
MTOR	2475	broad.mit.edu	37	1	11300438	11300438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:11300438G>A	uc001asd.3	-	10	1829	c.1708C>T	c.(1708-1710)Ctc>Ttc	p.L570F		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	570					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGGGTCGTGAGGCCAGGAGAG	0.572000														24			31		0	0	0.001512	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55290098	55290098	+	Silent	SNP	A	G	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:55290098A>G	uc010erz.1	+	4	737	c.699A>G	c.(697-699)gaA>gaG	p.E233E	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qhb.1_Silent_p.E233E	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	233					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CACCCACTGAACCAAGCTCCA	0.502000														88			32		0	0	0.001485	0	0
GALNT13	114805	broad.mit.edu	37	2	154801128	154801128	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:154801128A>T	uc002tyt.4	+	0	222	c.118A>T	c.(118-120)Aga>Tga	p.R40*	GALNT13_uc002tyr.4_Nonsense_Mutation_p.R40*	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	40						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E39K(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAAGAAGGAGAGATCTCTGCT	0.423000														50			25		0	0	0.001512	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216515	20216515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:20216515C>T	uc010tkt.2	+	0	929	c.929C>T	c.(928-930)cCa>cTa	p.P310L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGCATTCCATTGCCTTGT	0.393000														16			9		0	0	0.000443	0	0
BAP1	8314	broad.mit.edu	37	3	52438473	52438473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:52438473G>A	uc003ddx.3	-	11	1361	c.1246C>T	c.(1246-1248)Ctt>Ttt	p.L416F	BAP1_uc003ddw.3_5'Flank|BAP1_uc010hmg.3_5'Flank|BAP1_uc010hmh.3_Non-coding_Transcript	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	416					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCTGACCTAAGGGCAGAGTTG	0.537000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								26			24		0	0	0.002780	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954316	75954316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:75954316C>T	uc003kek.3	+	20	2575	c.2353C>T	c.(2353-2355)Cgc>Tgc	p.R785C	IQGAP2_uc010izv.2_Missense_Mutation_p.R338C|IQGAP2_uc011csv.2_Missense_Mutation_p.R281C|IQGAP2_uc003kel.3_Missense_Mutation_p.R281C	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	785					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AACAGTAATTCGCAAATTTGT	0.413000														74			22		0	0	0.001061	0	0
KRT222	125113	broad.mit.edu	37	17	38816309	38816309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:38816309G>A	uc002hvc.2	-	2	441	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F	KRT222_uc002hvb.2_Missense_Mutation_p.L86F|KRT222_uc010cxc.3_Missense_Mutation_p.L86F	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	126						intermediate filament	structural molecule activity	p.L126I(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTCGTGTTGAGAAGCATCTCG	0.443000														47			56		0	0	0.003610	0	0
CRB2	286204	broad.mit.edu	37	9	126125281	126125281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:126125281C>T	uc004bnx.1	+	1	324	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	CRB2_uc004bnw.1_Missense_Mutation_p.H78Y	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	78	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCCATGCCACCACGGCGCTCT	0.682000														26			9		0	0	0.000443	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961271	51961271	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:51961271A>T	uc002pwt.3	-	0	438	c.371T>A	c.(370-372)tTt>tAt	p.F124Y	SIGLEC8_uc010yda.2_Missense_Mutation_p.F124Y|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.F124Y	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	124					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCTAGCCGAAAGAAATATGA	0.498000														58			37		0	0	0.005524	0	0
EFCAB3	146779	broad.mit.edu	37	17	60483897	60483897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:60483897C>T	uc010wpc.2	+	8	772	c.701C>T	c.(700-702)aCt>aTt	p.T234I	EFCAB3_uc002izu.2_Missense_Mutation_p.T182I	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	182							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGTCCCTACACTATGGGCTAT	0.408000														6			20		0	0	0.001523	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955429	18955429	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:18955429C>T	uc001mpg.3	-	0	1121	c.903G>A	c.(901-903)gtG>gtA	p.V301V		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	301					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACCTTCATCCACCTCAGACG	0.552000														5			21		0	0	0.001216	0	0
USP24	23358	broad.mit.edu	37	1	55548966	55548966	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:55548966C>T	uc021onw.1	-	57	7207	c.6954G>A	c.(6952-6954)ggG>ggA	p.G2318G	USP24_uc001cyg.4_Silent_p.G2152G	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	2318					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCCGACTGGCCCCTAGGAGGA	0.428000														32			12		0	0	0.001368	0	0
POTEG	404785	broad.mit.edu	37	14	19553803	19553803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:19553803G>A	uc001vuz.1	+	0	439	c.387G>A	c.(385-387)atG>atA	p.M129I	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	129										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCGCTTTCATGGAGCCGAGGT	0.597000														130			25		0	0	0.004289	0	0
FAM83B	222584	broad.mit.edu	37	6	54792312	54792312	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:54792312C>T	uc003pck.3	+	3	732	c.616C>T	c.(616-618)Cga>Tga	p.R206*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	206								p.R206*(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTAGAATATTCGAGTGCGAAC	0.299000														28			27		0	0	0.001271	0	0
CHGB	1114	broad.mit.edu	37	20	5904645	5904645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:5904645G>A	uc002wmg.3	+	3	2161	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	CHGB_uc010zqz.2_Missense_Mutation_p.E302K	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	619						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAAGTCAGCTGAGTTTCCAGA	0.542000														8			11		0	0	0.000978	0	0
GRM5	2915	broad.mit.edu	37	11	88300543	88300543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:88300543C>T	uc001pcq.3	-	6	2508	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	GRM5_uc009yvm.3_Missense_Mutation_p.E770K	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	770					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.N769I(1)|p.N769N(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TACTTGGCCTCGTTGAAGTTA	0.433000														9			35		0	0	0.004878	0	0
NDUFB2	4708	broad.mit.edu	37	7	140402692	140402692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:140402692C>T	uc003vwa.3	+	1	189	c.125C>T	c.(124-126)cCc>cTc	p.P42L	NDUFB2_uc010lnl.3_Non-coding_Transcript|NDUFB2_uc022amu.1_5'Flank	NM_004546	NP_004537	O95178	NDUB2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa (NDUFB2), nuclear gene encoding mitochondrial protein, mRNA.	42					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.E41Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	CACATTGAGCCCCGGTATAGA	0.522000														51			33		0	0	0.002445	0	0
PXDNL	137902	broad.mit.edu	37	8	52321411	52321411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:52321411G>A	uc003xqu.4	-	16	2874	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	925					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGGCCAAGGAAAGCCTGTC	0.627000														16			15		0	0	0.002450	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175899	207175899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:207175899G>A	uc002vbp.2	+	4	6897	c.6647G>A	c.(6646-6648)cGg>cAg	p.R2216Q		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2216							nucleic acid binding|zinc ion binding	p.I2215I(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTTGGATTCGGACCAAACCA	0.358000														17			9		0	0	0.000443	0	0
GNA14	9630	broad.mit.edu	37	9	80039047	80039048	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:80039047_80039048GG>TA	uc004aku.3	-	6	1438_1439	c.915_916CC>TA	c.(913-918)atcctg>atTAtg	p.L306M		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	306					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TAAAGCTTCAGGATAAAGTCTC	0.431000														64			18		0	0	0.004672	0	0
OR4M1	441670	broad.mit.edu	37	14	20248760	20248760	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:20248760C>T	uc010tku.2	+	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93S(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATAATTTCCTTTGGTGGAT	0.448000														138			94		0	0	0.003610	0	0
MIR1324	100302212	broad.mit.edu	37	3	75680003	75680003	+	RNA	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:75680003G>A	uc021xar.1	+	0		c.90G>A								Homo sapiens microRNA 1324 (MIR1324), microRNA.																		CTTTCCTGGAGGCTCCATGCT	0.522000														35			7		0	0	0.001984	0	0
RHPN1	114822	broad.mit.edu	37	8	144463852	144463853	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:144463852_144463853CC>TT	uc003yyb.3	+	12	1732_1733	c.1599_1600CC>TT	c.(1597-1602)gtcctc>gtTTtc	p.L534F		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	559					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			ACTCGCCTGTCCTCATCGCTGC	0.698000														8			16		0	0	0.004672	0	0
SALL3	27164	broad.mit.edu	37	18	76757174	76757174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:76757174C>T	uc002lmt.3	+	2	3755	c.3755C>T	c.(3754-3756)cCt>cTt	p.P1252L	SALL3_uc010dra.3_Missense_Mutation_p.P787L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCTCCCCCCTCTGGGCAGC	0.627000														61			26		0	0	0.004656	0	0
KIF16B	55614	broad.mit.edu	37	20	16493521	16493522	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:16493521_16493522CC>TT	uc002wpg.2	-	4	554_555	c.395_396GG>AA	c.(394-396)cgg>cAA	p.R132Q	KIF16B_uc010gch.2_Missense_Mutation_p.R132Q|KIF16B_uc010gci.2_Missense_Mutation_p.R132Q|KIF16B_uc010gcj.2_Missense_Mutation_p.R132Q	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	132	Kinesin-motor.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTCATTTATCCGACTGAAGAG	0.460000														34			17		0	0	0.004672	0	0
KCNC4	3749	broad.mit.edu	37	1	110766492	110766493	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:110766492_110766493GA>AC	uc009wfr.3	+	1	2371_2372	c.1585_1586GA>AC	c.(1585-1587)gaa>ACa	p.E529T	KCNC4_uc001dzf.3_Missense_Mutation_p.E529T|KCNC4_uc001dzh.3_Missense_Mutation_p.E529T|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.E529T	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	529					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCTGCCCGGGAAGAGGGTATG	0.604000														13			14		0	0	0.004672	0	0
C4orf27	54969	broad.mit.edu	37	4	170663151	170663151	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:170663151G>T	uc003isl.4	-	4	670	c.605C>A	c.(604-606)tCg>tAg	p.S202*		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	Homo sapiens chromosome 4 open reading frame 27 (C4orf27), mRNA.	202						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTGTTCAAGCGAGTACCCCAA	0.358000														27			11		0.00010058	0.000220756	0.001368	1	0
MYH1	4619	broad.mit.edu	37	17	10404793	10404793	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:10404793C>T	uc002gmo.3	-	26	3466	c.3372G>A	c.(3370-3372)gaG>gaA	p.E1124E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1124						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1124*(1)		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						CCTCGATTTCCTCCTCCAGCT	0.542000														0			14		0	0	0.002450	0	0
TET3	200424	broad.mit.edu	37	2	74328099	74328099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:74328099C>T	uc002skb.4	+	8	3779	c.3779C>T	c.(3778-3780)tCc>tTc	p.S1260F		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1260							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TACAACAGATCCATCAAGCAA	0.602000														8			4		0	0	0.000248	0	0
INVS	27130	broad.mit.edu	37	9	103055012	103055012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:103055012C>T	uc004bap.1	+	13	2685	c.2473C>T	c.(2473-2475)Cct>Tct	p.P825S	INVS_uc011lve.1_Missense_Mutation_p.P729S|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.P729S|INVS_uc010mtb.1_Missense_Mutation_p.P499S	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	825					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TGGGCAGAATCCTCCCCACCA	0.587000														17			20		0	0	0.001216	0	0
FAT2	2196	broad.mit.edu	37	5	150923867	150923867	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:150923867T>C	uc003lue.4	-	8	6834	c.6821A>G	c.(6820-6822)cAa>cGa	p.Q2274R		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2274	Cadherin 20.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAGACCAATTGGGAAAAAGT	0.522000														25			36		0	0	0.002836	0	0
NDST4	64579	broad.mit.edu	37	4	115998075	115998075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:115998075C>T	uc003ibu.3	-	1	797	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	40	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTGTCATTTCCTGTTTGTAG	0.388000														24			12		0	0	0.000978	0	0
CD163	9332	broad.mit.edu	37	12	7639195	7639195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:7639195C>T	uc001qsz.3	-	9	2486	c.2358G>A	c.(2356-2358)atG>atA	p.M786I	CD163_uc001qta.3_Missense_Mutation_p.M786I|CD163_uc009zfw.2_Missense_Mutation_p.M819I	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	786	SRCR 7.				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						CATTGCATTTCATCTCATCCA	0.542000														108			64		0	0	0.003610	0	0
AGFG2	3268	broad.mit.edu	37	7	100161517	100161517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:100161517G>A	uc003uvf.3	+	9	1368	c.1232G>A	c.(1231-1233)gGg>gAg	p.G411E		NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	411	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCACCCACTGGGGCCTTTGCC	0.612000											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			9		0	0	0.000443	0	0
FNDC3B	64778	broad.mit.edu	37	3	172003763	172003763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:172003763G>A	uc003fhy.3	+	6	1010	c.838G>A	c.(838-840)Gag>Aag	p.E280K	FNDC3B_uc003fhz.4_Missense_Mutation_p.E280K|FNDC3B_uc003fia.3_Missense_Mutation_p.E211K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	280	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTCGGGAATAGAGAAACCACA	0.353000														24			10		0	0	0.000978	0	0
OR13C2	392376	broad.mit.edu	37	9	107367200	107367200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:107367200C>T	uc011lvq.2	-	0	709	c.709G>A	c.(709-711)Gct>Act	p.A237T		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K236I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GTAGAGGAAGCTTTGCTTCTC	0.393000														23			34		0	0	0.003755	0	0
C5orf30	90355	broad.mit.edu	37	5	102611674	102611675	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:102611674_102611675CC>GT	uc003kog.1	+	2	323_324	c.54_55CC>GT	c.(52-57)ttccct>ttGTct	p.18_19FP>LS	C5orf30_uc003koh.1_Missense_Mutation_p.18_19FP>LS|C5orf30_uc021yca.1_Missense_Mutation_p.18_19FP>LS	NM_033211	NP_149988	Q96GV9	CE030_HUMAN	Homo sapiens chromosome 5 open reading frame 30 (C5orf30), mRNA.	18										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		CCTTGCCCTTCCCTGGGGCTGA	0.550000														23			11		0	0	0.004672	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494445	20494445	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:20494445G>A	uc010bwe.3	+	13	1814	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	ACSM2A_uc002dhf.4_Silent_p.K525K|ACSM2A_uc002dhg.4_Silent_p.K525K|ACSM2A_uc010vay.2_Silent_p.K446K|ACSM2A_uc002dhh.4_Silent_p.K155K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	525					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCTCACCAAGGAGCTGCAGC	0.498000														98			45		0	0	0.003214	0	0
CR2	1380	broad.mit.edu	37	1	207651288	207651288	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:207651288G>A	uc001hfw.3	+	14	2903	c.2784G>A	c.(2782-2784)agG>agA	p.R928R	CR2_uc001hfv.3_Silent_p.R987R|CR2_uc009xch.3_Silent_p.R866R	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	928	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.A927S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAACCAAGGAAAATGTATC	0.443000														13			8		0	0	0.000443	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571628	155571628	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:155571628C>T	uc003fan.4	-	0	621	c.159G>A	c.(157-159)ctG>ctA	p.L53L	SLC33A1_uc003fao.2_Silent_p.L53L	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	53					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGGTATCCCCCAGAAGAGCTT	0.562000														46			19		0	0	0.002780	0	0
GCSHP3	100329109	broad.mit.edu	37	2	206980992	206980992	+	RNA	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:206980992C>T	uc002vbc.2	-	0		c.305G>A								Homo sapiens glycine cleavage system protein H (aminomethyl carrier) pseudogene (LOC100329109), non-coding RNA.																		TCATTAATTTCGGTTACTTCT	0.388000														15			13		0	0	0.001368	0	0
PRELID2	153768	broad.mit.edu	37	5	145197505	145197505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:145197505G>A	uc003lnp.1	-	4	441	c.356C>T	c.(355-357)tCc>tTc	p.S119F	PRELID2_uc003lno.1_Missense_Mutation_p.S78F|PRELID2_uc003lnq.1_Missense_Mutation_p.S107F|PRELID2_uc003lnr.1_Missense_Mutation_p.S107F	NM_182960	NP_892005	Q8N945	PRLD2_HUMAN	Homo sapiens PRELI domain containing 2 (PRELID2), transcript variant 1, mRNA.	119	PRELI/MSF1.									endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTTCATGGATGCATACTG	0.448000														40			17		0	0	0.006122	0	0
LRFN2	57497	broad.mit.edu	37	6	40359883	40359883	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:40359883G>A	uc003oph.1	-	2	2634	c.2169C>T	c.(2167-2169)tcC>tcT	p.S723S		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	723						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCATGTCGAAGGAGTGGCTGC	0.701000														10			8		0	0	0.003080	0	0
GINS4	84296	broad.mit.edu	37	8	41387799	41387799	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:41387799C>T	uc003xnx.3	+	1	288	c.78C>T	c.(76-78)ctC>ctT	p.L26L	GINS4_uc022aug.1_Non-coding_Transcript	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	Homo sapiens GINS complex subunit 4 (Sld5 homolog) (GINS4), mRNA.	26					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CTGCAGAGCTCATTGAAAGAT	0.463000														3			19		0	0	0.001882	0	0
PTPRT	11122	broad.mit.edu	37	20	40747076	40747076	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:40747076G>A	uc002xkg.3	-	20	3133	c.2949C>T	c.(2947-2949)atC>atT	p.I983I	PTPRT_uc010ggj.3_Silent_p.I1002I|PTPRT_uc010ggi.3_Silent_p.I186I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	983	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGACCATGACGATGCTGGCGG	0.532000														65			42		0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196709845	196709845	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:196709845G>A	uc002utj.4	-	46	8927	c.8826C>T	c.(8824-8826)atC>atT	p.I2942I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2942					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						CTGAGCAGGGGATATCTCTTC	0.403000														16			17		0	0	0.001216	0	0
DAB1	1600	broad.mit.edu	37	1	57611077	57611077	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:57611077C>T	uc009vzx.1	-	2	413	c.93G>A	c.(91-93)ttG>ttA	p.L31L	DAB1_uc001cyt.1_Silent_p.L31L|DAB1_uc001cyq.1_Silent_p.L31L|DAB1_uc001cyr.1_Silent_p.L31L|DAB1_uc009vzw.1_Silent_p.L31L|DAB1_uc001cys.1_Silent_p.L31L	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	31					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						ACCTCTTTATCAAAGTGGCTT	0.443000														39			10		0	0	0.000443	0	0
ALG8	79053	broad.mit.edu	37	11	77835129	77835129	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:77835129G>A	uc001oza.1	-	2	371	c.306C>T	c.(304-306)acC>acT	p.T102T	ALG8_uc001oyz.1_Silent_p.T102T|ALG8_uc009yuy.1_Non-coding_Transcript	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	102					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GGAAAAGTAAGGTCCTTGAGC	0.378000														9			40		0	0	0.001485	0	0
GPR174	84636	broad.mit.edu	37	X	78427144	78427144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:78427144G>A	uc004edg.1	+	0	676	c.640G>A	c.(640-642)Gat>Aat	p.D214N		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	214						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.D214N(2)		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						ATCACTGCAAGATAAATATCC	0.428000										HNSCC(63;0.18)				5			15		0	0	0.004990	0	0
LAMB3	3914	broad.mit.edu	37	1	209796330	209796330	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:209796330C>T	uc001hhg.3	-	15	2943	c.2553G>A	c.(2551-2553)caG>caA	p.Q851Q	LAMB3_uc009xco.3_Silent_p.Q851Q|LAMB3_uc001hhh.3_Silent_p.Q851Q|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	851	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CACTTACCATCTGCCTGGTCC	0.637000														77			28		0	0	0.001786	0	0
TECTA	7007	broad.mit.edu	37	11	120980167	120980167	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:120980167G>A	uc010rzo.2	+	2	446	c.446G>A	c.(445-447)tGg>tAg	p.W149*		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	149	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATTGTGACATGGGAGGAAGTC	0.443000														10			37		0	0	0.002522	0	0
KCTD8	386617	broad.mit.edu	37	4	44177195	44177195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:44177195C>T	uc003gwu.3	-	1	1318	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	345						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ACTTTCACTTCCTTTATCAGT	0.443000										HNSCC(17;0.042)				11			17		0	0	0.004007	0	0
FREM1	158326	broad.mit.edu	37	9	14748472	14748472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:14748472C>T	uc003zlm.3	-	31	6539	c.5723G>A	c.(5722-5724)gGa>gAa	p.G1908E	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Missense_Mutation_p.G444E	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1908					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGGGTGTCTCCCCTGATGAC	0.517000														11			37		0	0	0.004289	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431599	56431599	+	Silent	SNP	G	T	T	rs151139570		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:56431599G>T	uc010rjm.2	+	0	438	c.438G>T	c.(436-438)ctG>ctT	p.L146L	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CTCTCATGCTGGGCTCTTACC	0.512000														75			5		0.000602214	0.00130947	0.000602	1	0
SCN1A	6323	broad.mit.edu	37	2	166894334	166894334	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:166894334G>A	uc002udo.4	-	16	3125	c.2898C>T	c.(2896-2898)gcC>gcT	p.A966A	SCN1A_uc010fpk.3_Silent_p.A938A|SCN1A_uc021vsb.1_Silent_p.A955A	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	966						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TAAGGCACATGGCTTGACCAG	0.473000														80			32		0	0	0.003271	0	0
LRFN1	57622	broad.mit.edu	37	19	39805674	39805674	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:39805674G>A	uc002okw.2	-	0	303	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	101						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)			CCACCTGGCCGATGGTGTTCC	0.706000														5			4		0	0	0.001168	0	0
USP34	9736	broad.mit.edu	37	2	61415640	61415640	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:61415640T>A	uc002sbe.3	-	79	10260	c.10238A>T	c.(10237-10239)aAa>aTa	p.K3413I	USP34_uc002sbd.3_Missense_Mutation_p.K215I	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	3413					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCGGTATTCTTTAACAGAACT	0.423000														50			26		0	0	0.003954	0	0
GRB14	2888	broad.mit.edu	37	2	165476208	165476208	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:165476208T>A	uc002ucl.3	-	1	854	c.313A>T	c.(313-315)Agg>Tgg	p.R105W		NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	105					blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGTTTTTTCCTTGAATTTGCT	0.348000														20			29		0	0	0.001512	0	0
FAM83F	113828	broad.mit.edu	37	22	40417843	40417843	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:40417843C>T	uc003ayk.1	+	3	1423	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	443										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GCAGGCTCTTCAGTCGCCGAG	0.672000														17			11		0	0	0.000978	0	0
TLR4	7099	broad.mit.edu	37	9	120476880	120476880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:120476880G>A	uc004bjz.3	+	2	2765	c.2474G>A	c.(2473-2475)gGa>gAa	p.G825E	TLR4_uc004bkb.3_Missense_Mutation_p.G625E|TLR4_uc004bka.3_Missense_Mutation_p.G785E	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	825					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						AATCCAGAAGGAACAGTGGGT	0.498000														33			44		0	0	0.003610	0	0
OR4A16	81327	broad.mit.edu	37	11	55110739	55110739	+	Silent	SNP	G	A	A	rs78513473		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:55110739G>A	uc010rie.2	+	0	63	c.63G>A	c.(61-63)gtG>gtA	p.V21V		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V21V(2)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACAT	0.413000														4			28		0	0	0.005443	0	0
BCAR3	8412	broad.mit.edu	37	1	94027810	94027810	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:94027810C>T	uc001dpz.3	-	11	2741	c.2466G>A	c.(2464-2466)caG>caA	p.Q822Q	BCAR3_uc001dqa.3_Silent_p.Q822Q|BCAR3_uc001dqb.3_Silent_p.Q822Q|BCAR3_uc001dpx.4_Silent_p.Q498Q|BCAR3_uc001dpy.3_Silent_p.Q731Q	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	822					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)		AAAGCTCTGCCTGCTTTACAG	0.398000														55			11		0	0	0.001368	0	0
DEFA1	1667	broad.mit.edu	37	8	6873614	6873614	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:6873614C>T	uc003wqz.1	-	2	275	c.183G>A	c.(181-183)agG>agA	p.R61R		NM_004084	NP_005208	P59665	DEF1_HUMAN	Homo sapiens defensin, alpha 1 (DEFA1), mRNA.	61					chemotaxis|defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism|response to virus	extracellular space									COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		CCATGTTTTTCCTTGAGCCTG	0.493000														10			41		0	0	0.002852	0	0
PPARD	5467	broad.mit.edu	37	6	35392187	35392187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:35392187C>T	uc003okn.3	+	7	1114	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	PPARD_uc003okl.3_Missense_Mutation_p.P237S|PPARD_uc011dtb.2_Missense_Mutation_p.P198S|PPARD_uc011dtc.2_Missense_Mutation_p.P139S|PPARD_uc003okm.3_Missense_Mutation_p.P237S	NM_001171818	NP_006229	Q03181	PPARD_HUMAN	Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA.	237					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGGCCTGCCTCCCTACAAGGA	0.587000														24			23		0	0	0.003954	0	0
MGA	23269	broad.mit.edu	37	15	42058433	42058433	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr15:42058433T>C	uc010ucy.2	+	23	8334	c.8153T>C	c.(8152-8154)gTt>gCt	p.V2718A	MGA_uc010ucz.2_Missense_Mutation_p.V2509A	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2679						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCAACGCAGGTTTTTCTGGCA	0.408000														2			13		0	0	0.001368	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4443768	4443768	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:4443768C>T	uc002fxz.4	-	24	3371	c.3309G>A	c.(3307-3309)ttG>ttA	p.L1103L	MYBBP1A_uc002fyb.4_Silent_p.L1103L|MYBBP1A_uc002fya.4_Silent_p.L48L|MYBBP1A_uc010vsa.2_Silent_p.L145L	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1103					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						CCGTCAGGTCCAAGGTCAGCT	0.677000														16			13		0	0	0.000958	0	0
C11orf63	79864	broad.mit.edu	37	11	122830109	122830109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:122830109G>A	uc001pym.3	+	8	2590	c.2293G>A	c.(2293-2295)Gaa>Aaa	p.E765K		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	765										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACACGAAAGGGAAAAACAGGC	0.413000														3			18		0	0	0.000958	0	0
NYAP2	57624	broad.mit.edu	37	2	226446914	226446914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:226446914G>A	uc002voe.2	+	3	956	c.781G>A	c.(781-783)Gat>Aat	p.D261N	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.D31N	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	261																	GAAGGAGGACGATGACCAGAG	0.562000														39			47		0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166892848	166892848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:166892848C>T	uc002udo.4	-	17	3366	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K	SCN1A_uc010fpk.3_Missense_Mutation_p.E1019K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1036K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1047						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTTAATTTCATCTAAAATC	0.308000														19			7		0	0	0.003080	0	0
ATAD2B	54454	broad.mit.edu	37	2	24046247	24046247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:24046247G>A	uc002rek.4	-	15	2308	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	ATAD2B_uc002rei.4_Missense_Mutation_p.S671L|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	671							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCATGCCCTGAAGACATCAC	0.453000														16			6		0	0	0.001984	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070261	57070261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:57070261G>A	uc001njr.3	-	5	4667	c.4355C>T	c.(4354-4356)tCc>tTc	p.S1452F	TNKS1BP1_uc001njq.3_Missense_Mutation_p.S24F|TNKS1BP1_uc001njs.3_Missense_Mutation_p.S1452F	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1452	Acidic.|Tankyrase-binding.				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)				CAGGCCCTGGGAGCCGGAGGG	0.687000														1			4		0	0	0.000602	0	0
SLC34A2	10568	broad.mit.edu	37	4	25669533	25669533	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:25669533C>T	uc003grr.3	+	5	636	c.555C>T	c.(553-555)atC>atT	p.I185I	SLC34A2_uc003grs.3_Silent_p.I184I|SLC34A2_uc010iev.3_Silent_p.I184I	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	185					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCCCATTATCATGGGGGCCA	0.502000			T	ROS1	NSCLC									16			18		0	0	0.001216	0	0
MGAM	8972	broad.mit.edu	37	7	141727428	141727428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:141727428C>T	uc003vwy.3	+	9	1168	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	372	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCGGCCAGCCCTTCCCTCCTA	0.443000														22			10		0	0	0.001368	0	0
LRRC42	115353	broad.mit.edu	37	1	54417850	54417850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:54417850G>A	uc001cwj.1	+	1	378	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	LRRC42_uc001cwk.1_Missense_Mutation_p.E60K	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA.	60										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CATGAACAGGGAAGACGACAC	0.512000														44			20		0	0	0.002780	0	0
PASD1	139135	broad.mit.edu	37	X	150791502	150791502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:150791502G>A	uc004fev.4	+	6	844	c.512G>A	c.(511-513)gGa>gAa	p.G171E		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	171						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TATCTTGTGGGAAATGTTTGC	0.512000														5			41		0	0	0.005524	0	0
EML5	161436	broad.mit.edu	37	14	89163205	89163205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:89163205G>A	uc021ryf.1	-	14	2579	c.2330C>T	c.(2329-2331)gCc>gTc	p.A777V	EML5_uc021ryg.1_Missense_Mutation_p.A777V|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	777						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAAATCAACGGCACTAACACC	0.393000														3			17		0	0	0.000958	0	0
GLB1L3	112937	broad.mit.edu	37	11	134151280	134151280	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:134151280G>A	uc009zdf.3	+	3	732	c.372G>A	c.(370-372)ccG>ccA	p.P124P	GLB1L3_uc010scs.2_Silent_p.P124P|GLB1L3_uc010sct.2_5'UTR	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	124					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCTATGTTCCGTGGAACCTGC	0.493000														23			74		0	0	0.003610	0	0
DES	1674	broad.mit.edu	37	2	220286282	220286282	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:220286282G>A	uc002vll.3	+	6	1330	c.1244_splice	c.e6+1	p.R415_splice		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	415	Tail.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGGAGAGCCGGTGAGGGGCC	0.627000														8			3		0	0	0.004672	0	0
RBL1	5933	broad.mit.edu	37	20	35717524	35717524	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:35717524C>T	uc002xgi.3	-	2	236	c.157_splice	c.e2-1	p.G53_splice	RBL1_uc002xgj.1_Splice_Site_p.G53_splice|RBL1_uc010gfv.1_Splice_Site	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	53					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TGTAACTTCTCCCTGGCAAGC	0.373000														15			19		0	0	0.006122	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290729	141290729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:141290729C>T	uc022cfj.1	-	0	1045	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	MAGEC2_uc004fbu.2_Missense_Mutation_p.D349N	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	349						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCGGTATCAATTGTGGCC	0.468000										HNSCC(46;0.14)				19			39		0	0	0.003610	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141802	133141802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:133141802G>A	uc003ytj.3	-	14	2551	c.2326C>T	c.(2326-2328)Ccc>Tcc	p.P776S	KCNQ3_uc003yti.3_Missense_Mutation_p.P656S|KCNQ3_uc010mdt.3_Missense_Mutation_p.P764S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	776					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTCTGCCGGGGGGAGATTCGG	0.617000														29			21		0	0	0.002780	0	0
EPHA6	285220	broad.mit.edu	37	3	97167412	97167412	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:97167412G>A	uc010how.1	+	7	1775	c.1732_splice	c.e7-1	p.E578_splice	EPHA6_uc011bgo.1_Splice_Site|EPHA6_uc011bgp.1_Splice_Site|EPHA6_uc003drs.4_Splice_Site|EPHA6_uc003drr.4_Splice_Site|EPHA6_uc003drt.3_Splice_Site|EPHA6_uc010hox.1_Splice_Site	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	483						integral to plasma membrane	ATP binding|ephrin receptor activity			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						TGTCCCCCAGGAACATGAGCA	0.418000														31			18		0	0	0.001523	0	0
LRGUK	136332	broad.mit.edu	37	7	133812400	133812400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:133812400G>A	uc003vrm.1	+	0	296	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	94							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTCAGAGTCCGAAATGCTGAA	0.642000														15			12		0	0	0.001855	0	0
ADCY10	55811	broad.mit.edu	37	1	167839635	167839635	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:167839635C>T	uc001ger.3	-	13	1774	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	ADCY10_uc010plj.2_Silent_p.E339E|ADCY10_uc009wvk.3_Silent_p.E400E|ADCY10_uc009wvl.3_Silent_p.E491E	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	492					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding	p.E492D(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGTAGTTGATCTCTTTATTAC	0.318000														13			9		0	0	0.000443	0	0
ZBED4	9889	broad.mit.edu	37	22	50279635	50279635	+	Silent	SNP	G	A	A	rs71774500		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:50279635G>A	uc003bix.2	+	1	2795	c.2325G>A	c.(2323-2325)gtG>gtA	p.V775V	ZBED4_uc021wrx.1_Silent_p.V775V	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	775						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGTCGCAGGTGGACTGCGACT	0.647000														11			9		0	0	0.000673	0	0
UBE2E2	7325	broad.mit.edu	37	3	23250196	23250196	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:23250196C>T	uc003ccg.2	+	1	186	c.6C>T	c.(4-6)tcC>tcT	p.S2S	UBE2E2_uc010hfc.2_Non-coding_Transcript	NM_152653	NP_689866	Q96LR5	UB2E2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 2 (UBE2E2), mRNA.	2					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						CTAAAATGTCCACTGAGGCAC	0.403000														14			7		0	0	0.001984	0	0
FBN3	84467	broad.mit.edu	37	19	8182136	8182136	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:8182136A>C	uc002mjf.3	-	26	3520	c.3503T>G	c.(3502-3504)gTg>gGg	p.V1168G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1168	EGF-like 16; 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						AATACAGTGCACGTCACACCC	0.632000														18			14		0	0	0.006122	0	0
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	T	T	rs149004156	by1000genomes	TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:320606G>T	uc001lpa.2	-	0	309	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	BC040735_uc001loz.3_Intron	NM_021034	NP_066362	Q01628	IFM3_HUMAN	Homo sapiens interferon induced transmembrane protein 3 (IFITM3), mRNA.	70	Interaction with SPP1.				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P70T(6)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632000														40			9		0.000442599	0.00096464	0.000443	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110408344	110408344	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:110408344C>T	uc003yne.3	+	10	1004	c.900C>T	c.(898-900)ttC>ttT	p.F300F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	300	IPT/TIG 3.				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)			AGACAGATTTCCCCGTCAGAG	0.393000										HNSCC(38;0.096)				10			11		0	0	0.000978	0	0
TNS3	64759	broad.mit.edu	37	7	47454705	47454705	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:47454705G>A	uc003tnw.3	-	10	931	c.573C>T	c.(571-573)ttC>ttT	p.F191F	TNS3_uc010kyo.1_Silent_p.F191F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	191	C2 tensin-type.					focal adhesion	protein binding	p.F191fs*10(4)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CACCTGTGTCGAAGTTGGGGG	0.572000														11			4		0	0	0.000602	0	0
LIMCH1	22998	broad.mit.edu	37	4	41673605	41673605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:41673605G>A	uc003gvz.4	+	21	3849	c.3432G>A	c.(3430-3432)atG>atA	p.M1144I	LIMCH1_uc003gwe.4_Intron|LIMCH1_uc003gvu.4_Missense_Mutation_p.M759I|LIMCH1_uc003gvv.4_Missense_Mutation_p.M759I|LIMCH1_uc003gvw.4_Missense_Mutation_p.M759I|LIMCH1_uc003gvx.4_Missense_Mutation_p.M772I|LIMCH1_uc003gvy.4_Missense_Mutation_p.M588I|LIMCH1_uc003gwa.4_Missense_Mutation_p.M600I|LIMCH1_uc011byu.2_Missense_Mutation_p.M593I|LIMCH1_uc003gwc.4_Missense_Mutation_p.M605I|LIMCH1_uc003gwd.4_Missense_Mutation_p.M593I|LIMCH1_uc011byv.2_Missense_Mutation_p.M510I|LIMCH1_uc011byw.2_Missense_Mutation_p.M59I	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	759					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CACCTGTTATGACACCTGTAA	0.333000														20			13		0	0	0.004007	0	0
MGC16703	113691	broad.mit.edu	37	22	21363406	21363406	+	RNA	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:21363406C>T	uc002zty.4	-	2		c.1050G>A			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		CACAGGGAGGCCGTGATGGAG	0.562000														22			10		0	0	0.000443	0	0
COL3A1	1281	broad.mit.edu	37	2	189859504	189859504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:189859504G>A	uc002uqj.1	+	19	1519	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	468	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G468E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGCAAGGATGGATCACCTGG	0.443000														27			19		0	0	0.000958	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101731	69101731	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:69101731G>A	uc003hdw.4	-	3	433	c.297C>T	c.(295-297)gtC>gtT	p.V99V		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	99	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GAAGTTTGATGACCTCAGATT	0.269000														7			9		0	0	0.001368	0	0
RNF220	55182	broad.mit.edu	37	1	44877799	44877799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:44877799G>A	uc001clv.1	+	1	390	c.30G>A	c.(28-30)atG>atA	p.M10I	RNF220_uc001clw.1_Missense_Mutation_p.M10I	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	10					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCTTCAAGATGGAGAACTCAT	0.587000														23			10		0	0	0.000673	0	0
ATP10D	57205	broad.mit.edu	37	4	47560265	47560265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:47560265G>A	uc003gxk.1	+	11	2573	c.2409G>A	c.(2407-2409)atG>atA	p.M803I	ATP10D_uc003gxl.1_Missense_Mutation_p.M51I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	803					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTGTGATCATGGAGTTACTGT	0.413000														38			30		0	0	0.003271	0	0
CACNA1C	775	broad.mit.edu	37	12	2760885	2760885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:2760885G>A	uc009zdu.1	+	33	4482	c.4169G>A	c.(4168-4170)cGt>cAt	p.R1390H	CACNA1C_uc001qkc.2_Missense_Mutation_p.R1342H|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1342H|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1342H|CACNA1C_uc001qke.2_Missense_Mutation_p.R1331H|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1331H|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1364H|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1329H|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1331H|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1390H|CACNA1C_uc001qkj.2_Missense_Mutation_p.R1342H|CACNA1C_uc001qkk.2_Missense_Mutation_p.R1342H|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1342H|CACNA1C_uc001qkm.2_Missense_Mutation_p.R1331H|CACNA1C_uc001qko.2_Missense_Mutation_p.R1362H|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1342H|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1370H|CACNA1C_uc001qku.2_Missense_Mutation_p.R1342H|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1359H|CACNA1C_uc001qks.2_Missense_Mutation_p.R1342H|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1342H|CACNA1C_uc009zdv.1_Missense_Mutation_p.R1339H|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1342H|CACNA1C_uc001qki.1_Missense_Mutation_p.R1078H|CACNA1C_uc010sea.1_Missense_Mutation_p.R33H	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1390					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGCTGAGCCGTGGGGAGGGC	0.642000														24			14		0	0	0.002450	0	0
HUNK	30811	broad.mit.edu	37	21	33370979	33370979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:33370979G>A	uc002yph.3	+	10	1987	c.1627G>A	c.(1627-1629)Gga>Aga	p.G543R		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	543					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCCAGGGCCCGGAAGCACTGG	0.602000														21			19		0	0	0.006122	0	0
RAB40AL	282808	broad.mit.edu	37	X	102193017	102193017	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:102193017G>A	uc004ejs.3	+	0	818	c.771G>A	c.(769-771)gtG>gtA	p.V257V		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	Homo sapiens RAB40A, member RAS oncogene family-like (RAB40AL), mRNA.	257					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						TCTGCAAAGTGAAGATCGTCT	0.532000														4			34		0	0	0.003271	0	0
LCT	3938	broad.mit.edu	37	2	136570000	136570000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:136570000C>T	uc002tuu.1	-	6	2245	c.2234G>A	c.(2233-2235)aGa>aAa	p.R745K		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	745	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AACTTTTCCTCTTGTGTATTC	0.468000														40			16		0	0	0.003163	0	0
NRG1	3084	broad.mit.edu	37	8	32621534	32621534	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:32621534C>T	uc003xiv.2	+	11	2054	c.1537C>T	c.(1537-1539)Cct>Tct	p.P513S	NRG1_uc022ats.1_Missense_Mutation_p.P463S|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.P518S|NRG1_uc003xiw.2_Missense_Mutation_p.P510S|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.P255S|NRG1_uc010lvs.2_Missense_Mutation_p.P255S|NRG1_uc010lvp.2_Missense_Mutation_p.P467S|NRG1_uc010lvq.2_Missense_Mutation_p.P443S|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.P356S|NRG1_uc003xja.2_Missense_Mutation_p.P324S	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	513					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TAACAGCCTCCCTGCTAGCCC	0.562000														1			17		0	0	0.000958	0	0
TAF1L	138474	broad.mit.edu	37	9	32634818	32634818	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:32634818G>A	uc003zrg.1	-	0	850	c.760C>T	c.(760-762)Cga>Tga	p.R254*	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	254					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.R254*(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTTCCAGGTCGAAATTCTGGA	0.483000														36			21		0	0	0.001882	0	0
CFI	3426	broad.mit.edu	37	4	110687788	110687788	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:110687788T>C	uc011cft.2	-	1	458	c.250A>G	c.(250-252)Aca>Gca	p.T84A	CFI_uc003hzr.4_Missense_Mutation_p.T84A	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	84	Kazal-like.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGACAGTATGTTGGGAAGCTT	0.438000														37			15		0	0	0.003163	0	0
POC1A	25886	broad.mit.edu	37	3	52130635	52130636	+	Silent	DNP	GT	AA	AA			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:52130635_52130636GT>AA	uc003dcu.3	-	9	1392_1393	c.1074_1075AC>TT	c.(1072-1077)acactg>acTTtg	p.358_359TL>TL	POC1A_uc003dcv.3_Silent_p.320_321TL>TL|POC1A_uc003dcw.3_Intron	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN	Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.	358						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GTGCTAGTCAGTGTCTGGGGCA	0.614000														51			39		0	0	0.004672	0	0
TRANK1	9881	broad.mit.edu	37	3	36872668	36872668	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:36872668C>T	uc003cgj.3	-	20	8522	c.8274G>A	c.(8272-8274)agG>agA	p.R2758R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2758					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCAGCTCAGCCCTGGAAAGGA	0.557000														27			28		0	0	0.001061	0	0
SVEP1	79987	broad.mit.edu	37	9	113276374	113276374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:113276374C>T	uc010mtz.3	-	3	1314	c.977G>A	c.(976-978)gGg>gAg	p.G326E	SVEP1_uc010mua.1_Missense_Mutation_p.G326E|SVEP1_uc004beu.2_Missense_Mutation_p.G326E|SVEP1_uc004bev.3_Missense_Mutation_p.G70E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	326					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTTGTATGTCCCCGATGGGCA	0.478000														12			5		0	0	0.000602	0	0
IGSF3	3321	broad.mit.edu	37	1	117122036	117122036	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:117122036G>A	uc001egq.1	-	10	4077	c.3372C>T	c.(3370-3372)atC>atT	p.I1124I	IGSF3_uc001egr.1_Silent_p.I1104I	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	1104						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CACGGATGCCGATGGGGGCTG	0.522000														58			22		0	0	0.002780	0	0
ANKS1B	56899	broad.mit.edu	37	12	99837454	99837454	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:99837454G>A	uc001tge.2	-	10	1989	c.1572C>T	c.(1570-1572)ccC>ccT	p.P524P	ANKS1B_uc001tgf.2_Silent_p.P104P|ANKS1B_uc009ztt.1_Silent_p.P490P	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	524						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CACTTACCTGGGGTCGAATGA	0.413000														10			19		0	0	0.001882	0	0
FGF16	8823	broad.mit.edu	37	X	76711855	76711855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:76711855G>A	uc011mqp.2	+	1	193	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_003868	NP_003859	O43320	FGF16_HUMAN	Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.	156					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						CAAACATTCGGACTCAGAGAG	0.468000														8			23		0	0	0.002780	0	0
SNED1	25992	broad.mit.edu	37	2	241991544	241991544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:241991544C>T	uc002wah.1	+	13	1939	c.1939C>T	c.(1939-1941)Cca>Tca	p.P647S		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	647	EGF-like 9.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGACTGTCCCCCAGGCTTCTC	0.617000														21			15		0	0	0.004007	0	0
FAT1	2195	broad.mit.edu	37	4	187539690	187539690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:187539690C>T	uc003izf.3	-	9	8238	c.8050G>A	c.(8050-8052)Gaa>Aaa	p.E2684K		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2684	Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAACAGATTCTTTTGATGGA	0.413000										HNSCC(5;0.00058)				50			27		0	0	0.002445	0	0
ZAN	7455	broad.mit.edu	37	7	100361526	100361526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:100361526C>T	uc003uwj.3	+	20	4249	c.4084C>T	c.(4084-4086)Cat>Tat	p.H1362Y	ZAN_uc003uwk.3_Missense_Mutation_p.H1362Y|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1362	VWFD 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTCGACACTCATGGCCCATT	0.597000														39			33		0	0	0.003755	0	0
IFNAR2	3455	broad.mit.edu	37	21	34660416	34660417	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:34660416_34660417CC>TT	uc002yrl.1	+	4	1071_1072	c.660_661CC>TT	c.(658-663)gtcccc>gtTTcc	p.P221S	IFNAR2_uc002yrk.1_Missense_Mutation_p.P219S	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	240					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CAGAAACGGTCCCCTCCTGGAT	0.540000														109			55		0	0	0.004672	0	0
CEP85L	387119	broad.mit.edu	37	6	118790464	118790464	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:118790464G>A	uc003pya.2	-	12	2101	c.2034C>T	c.(2032-2034)aaC>aaT	p.N678N	CEP85L_uc003pxz.2_Silent_p.N675N	NM_001178035	NP_001171506	Q5SZL2	CF204_HUMAN	Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA.	675						centrosome											TTTGTCTTTGGTTCTGCAAGG	0.408000														10			47		0	0	0.003610	0	0
LMTK2	22853	broad.mit.edu	37	7	97823516	97823516	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:97823516C>T	uc003upd.2	+	10	4032	c.3739C>T	c.(3739-3741)Ctg>Ttg	p.L1247L		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1247					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGACAAGTCCCTGTCCAGCCA	0.602000														11			6		0	0	0.003080	0	0
ATP2B2	491	broad.mit.edu	37	3	10387777	10387777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:10387777C>T	uc003bvt.3	-	16	2888	c.2449G>A	c.(2449-2451)Gtg>Atg	p.V817M	ATP2B2_uc003bvv.3_Missense_Mutation_p.V772M|ATP2B2_uc003bvw.3_Missense_Mutation_p.V772M|ATP2B2_uc010hdo.3_Missense_Mutation_p.V522M	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	817					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	p.V817I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCCCCGTCACGGCCACCACC	0.687000														17			8		0	0	0.000443	0	0
C5orf30	90355	broad.mit.edu	37	5	102611864	102611864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:102611864G>A	uc003kog.1	+	2	513	c.244G>A	c.(244-246)Gag>Aag	p.E82K	C5orf30_uc003koh.1_Missense_Mutation_p.E82K|C5orf30_uc021yca.1_Missense_Mutation_p.E82K	NM_033211	NP_149988	Q96GV9	CE030_HUMAN	Homo sapiens chromosome 5 open reading frame 30 (C5orf30), mRNA.	82										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		AGGAGGTGAAGAGAGCAAAGC	0.493000														7			19		0	0	0.001882	0	0
TECTA	7007	broad.mit.edu	37	11	121016325	121016325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:121016325C>T	uc010rzo.2	+	10	3605	c.3605C>T	c.(3604-3606)tCc>tTc	p.S1202F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1202	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AATATCTTTTCCTTTGGCTTC	0.502000														17			71		0	0	0.003610	0	0
GJB3	2707	broad.mit.edu	37	1	35250366	35250366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:35250366G>A	uc001bxz.4	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	GJB3_uc001bxx.3_Missense_Mutation_p.M1I|GJB3_uc001bxy.3_Missense_Mutation_p.M1I	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	1					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CAGGCGCCATGGACTGGAAGA	0.542000														5			5		0	0	0.000602	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891278	18891278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:18891278G>A	uc001rdy.3	+	0	234	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	26					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CCCTCCAGGGGAATTTGTAAA	0.458000														42			31		0	0	0.001512	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517836	158517836	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:158517836C>T	uc010pil.2	-	0	60	c.60G>A	c.(58-60)ctG>ctA	p.L20L		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TTGGAAACCCCAGAAGAATGA	0.448000														32			10		0	0	0.000673	0	0
DLEC1	9940	broad.mit.edu	37	3	38149958	38149958	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:38149958C>T	uc003chp.1	+	20	3102	c.3081C>T	c.(3079-3081)ggC>ggT	p.G1027G	DLEC1_uc003cho.1_Silent_p.G1027G|DLEC1_uc010hgv.1_Silent_p.G1027G|DLEC1_uc003chr.1_Silent_p.G133G|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1027					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCCTGCTGGGCCCAAGTGAGG	0.567000														17			10		0	0	0.000978	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604553	160604553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:160604553G>A	uc001fwl.4	-	2	896	c.550C>T	c.(550-552)Cca>Tca	p.P184S	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	184	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGTTCAGTGGGTGGGTGCCC	0.592000														20			45		0	0	0.002852	0	0
TDRD7	23424	broad.mit.edu	37	9	100237744	100237744	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:100237744G>C	uc004axj.3	+	11	2384	c.2159G>C	c.(2158-2160)cGa>cCa	p.R720P	TDRD7_uc011lux.2_Missense_Mutation_p.R646P|TDRD7_uc010msp.1_Intron|TDRD7_uc011luy.2_Intron	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	720	Tudor 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	p.R720*(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAATGGTTACGAGTAGAGGTA	0.328000														11			17		0	0	0.006122	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464962	110464962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:110464962C>T	uc003yne.3	+	42	6627	c.6523C>T	c.(6523-6525)Ctt>Ttt	p.L2175F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2175	IPT/TIG 14.				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)			TGCTGACTTTCTTTATGTTGA	0.358000										HNSCC(38;0.096)				8			4		0	0	0.000248	0	0
BRD7	29117	broad.mit.edu	37	16	50388812	50388812	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:50388812G>A	uc021thx.1	-	2	440	c.280C>T	c.(280-282)Cga>Tga	p.R94*	BRD7_uc002ege.2_Nonsense_Mutation_p.R94*	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	94					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ACCCGGTCTCGATCTCGCTTC	0.403000														16			60		0	0	0.003610	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				53			77		0	0	0.003610	0	0
SLC6A18	348932	broad.mit.edu	37	5	1246071	1246071	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:1246071C>T	uc003jby.2	+	11	1888	c.1765C>T	c.(1765-1767)Cag>Tag	p.Q589*		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	589					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCGCTTGCTCAGCTGCTCAC	0.731000														5			9		0	0	0.004482	0	0
PRC1	9055	broad.mit.edu	37	15	91512747	91512747	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr15:91512747T>C	uc002bqm.3	-	12	1836	c.1679A>G	c.(1678-1680)tAc>tGc	p.Y560C	PRC1_uc002bqn.3_Missense_Mutation_p.Y560C|PRC1_uc002bqo.3_Intron|PRC1_uc010uqs.2_Intron	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	560	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGAGCCAGGGTACCCACCACT	0.537000														62			268		0	0	0.003610	0	0
TRIM15	89870	broad.mit.edu	37	6	30131573	30131573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:30131573C>T	uc010jrx.3	+	0	591	c.112C>T	c.(112-114)Ctc>Ttc	p.L38F	TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	38					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CTTCTGCCGGCTCTGCCTCCC	0.667000														21			26		0	0	0.002096	0	0
GNE	10020	broad.mit.edu	37	9	36222900	36222900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:36222900G>A	uc010mlh.3	-	8	1728	c.1507C>T	c.(1507-1509)Ccc>Tcc	p.P503S	GNE_uc010mlg.3_Intron|GNE_uc011lpl.2_Missense_Mutation_p.P393S|GNE_uc010mli.3_Missense_Mutation_p.P534S|GNE_uc010mlj.3_Missense_Mutation_p.P498S	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA.	503	N-acetylmannosamine kinase.				N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TCAGAAAGGGGGGTCCTAAGG	0.517000														38			59		0	0	0.003610	0	0
IARS	3376	broad.mit.edu	37	9	95048112	95048112	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:95048112G>A	uc004art.1	-	5	746	c.489C>T	c.(487-489)ttC>ttT	p.F163F	IARS_uc004ars.1_Silent_p.F8F|IARS_uc004aru.3_Silent_p.F163F|IARS_uc010mqr.2_Silent_p.F53F|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	163					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGAGTTGTTTGAAGACCCACC	0.383000														17			23		0	0	0.003954	0	0
RASEF	158158	broad.mit.edu	37	9	85619478	85619478	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:85619478C>T	uc004amo.1	-	8	1398	c.1137G>A	c.(1135-1137)ggG>ggA	p.G379G		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	379					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAATTGTATTCCCTGGTGAGA	0.328000														15			16		0	0	0.004990	0	0
SAMD9	54809	broad.mit.edu	37	7	92734923	92734923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:92734923G>A	uc003umf.3	-	2	758	c.488C>T	c.(487-489)tCa>tTa	p.S163L	SAMD9_uc003umg.3_Missense_Mutation_p.S163L|SAMD9_uc022ahg.1_Missense_Mutation_p.S163L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	163						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATGGATATGATACACATGT	0.363000														35			32		0	0	0.001786	0	0
abParts	0	broad.mit.edu	37	14	106800481	106800481	+	RNA	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:106800481C>T	uc021ser.1	-	592		c.16776G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCCT	0.473000														4			3		0	0	0.004672	0	0
RBM15B	29890	broad.mit.edu	37	3	51430322	51430322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:51430322C>T	uc003dbd.3	+	0	1624	c.1492C>T	c.(1492-1494)Ccc>Tcc	p.P498S		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	498					RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACTCGGTACCCCCAGCAGTA	0.627000														35			14		0	0	0.003163	0	0
SDPR	8436	broad.mit.edu	37	2	192701073	192701073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:192701073C>T	uc002utb.3	-	1	1209	c.854G>A	c.(853-855)gGa>gAa	p.G285E		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	285						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGAGCTTTTTCCTGAGGATAT	0.458000														94			36		0	0	0.004878	0	0
KIF3B	9371	broad.mit.edu	37	20	30919052	30919052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:30919052C>T	uc002wxq.3	+	8	2354	c.2174C>T	c.(2173-2175)tCc>tTc	p.S725F	KIF3B_uc010ztw.2_Missense_Mutation_p.S663F	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	725	Globular.|Poly-Ser.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAGTCGGGATCCTCCTCCTCT	0.493000														56			42		0	0	0.003610	0	0
OR5V1	81696	broad.mit.edu	37	6	29323340	29323340	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:29323340G>A	uc011dlo.2	-	0	715	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGATACAAAGGAAAGGAGTCC	0.478000														60			47		0	0	0.003610	0	0
SETBP1	26040	broad.mit.edu	37	18	42531250	42531250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:42531250C>T	uc010dni.3	+	3	2241	c.1945C>T	c.(1945-1947)Cac>Tac	p.H649Y		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	649						nucleus	DNA binding	p.A648S(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATGAAATTTCACAAGAAAGT	0.433000									Schinzel-Giedion syndrome					25			13		0	0	0.003163	0	0
ARPP21	10777	broad.mit.edu	37	3	35780969	35780969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:35780969C>T	uc011axy.2	+	15	2020	c.1808C>T	c.(1807-1809)cCt>cTt	p.P603L	ARPP21_uc003cga.3_Missense_Mutation_p.P583L|ARPP21_uc003cgb.3_Missense_Mutation_p.P602L|ARPP21_uc003cgf.3_Missense_Mutation_p.P438L|ARPP21_uc003cgg.3_Missense_Mutation_p.P125L	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	602	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						CAGCAGCTTCCTACAGGAGGA	0.617000														25			12		0	0	0.000978	0	0
LOC392232	392232	broad.mit.edu	37	8	73157241	73157241	+	RNA	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:73157241C>T	uc022avu.1	-	2		c.361G>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		ATTCCATAATCATCCATAATC	0.408000														18			16		0	0	0.003163	0	0
CD34	947	broad.mit.edu	37	1	208073226	208073226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:208073226C>T	uc001hgw.1	-	1	460	c.202G>A	c.(202-204)Gga>Aga	p.G68R	CD34_uc001hgx.1_Missense_Mutation_p.G68R|CD34_uc010psj.1_Silent_p.L17L	NM_001025109	NP_001020280	P28906	CD34_HUMAN	Homo sapiens CD34 molecule (CD34), transcript variant 1, mRNA.	68					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGGTACTTCCAAGGGTACTA	0.463000														71			30		0	0	0.002096	0	0
BSN	8927	broad.mit.edu	37	3	49688503	49688503	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:49688503G>A	uc003cxe.4	+	3	2091	c.1977G>A	c.(1975-1977)ggG>ggA	p.G659G		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	659					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCAAGGGTGGGGAGGCGGAGG	0.597000														10			10		0	0	0.000443	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471960	47471960	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:47471960G>A	uc001rpm.3	-	2	1481	c.826C>T	c.(826-828)Cag>Tag	p.Q276*	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Nonsense_Mutation_p.Q276*|AMIGO2_uc001rpl.3_Nonsense_Mutation_p.Q276*|AMIGO2_uc021qxg.1_Nonsense_Mutation_p.Q276*	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	276	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AAGCTATCCTGGAGCAGAAGT	0.488000														2			25		0	0	0.004656	0	0
CDH6	1004	broad.mit.edu	37	5	31323288	31323288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:31323288C>T	uc003jhe.2	+	11	2606	c.2246C>T	c.(2245-2247)tCc>tTc	p.S749F		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	749					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTGGCGGATTCCCTGAGCTCG	0.512000														10			17		0	0	0.004990	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661464	35661464	+	Silent	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:35661464C>T	uc003anl.3	+	4	1257	c.1083C>T	c.(1081-1083)ggC>ggT	p.G361G	HMGXB4_uc011amh.1_Silent_p.G252G|HMGXB4_uc003ank.3_Silent_p.G252G	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	361					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGACATCTGGCCCTCCTCCCA	0.512000														48			14		0	0	0.002450	0	0
EAF2	55840	broad.mit.edu	37	3	121575914	121575914	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:121575914G>A	uc003een.3	+	3	494	c.395G>A	c.(394-396)tGg>tAg	p.W132*	EAF2_uc003eeo.3_Nonsense_Mutation_p.W2*	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	132					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CAACAAATGTGGAATTCAGCC	0.358000														14			15		0	0	0.002450	0	0
OCIAD1	54940	broad.mit.edu	37	4	48853932	48853932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:48853932C>T	uc010igk.3	+	6	718	c.502C>T	c.(502-504)Cca>Tca	p.P168S	OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.P163S|OCIAD1_uc003gyq.3_Missense_Mutation_p.P163S|OCIAD1_uc003gyp.3_Missense_Mutation_p.P163S|OCIAD1_uc003gyr.3_Missense_Mutation_p.P163S|OCIAD1_uc021xoc.1_Missense_Mutation_p.P163S	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	163						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TGAGCCAATTCCATTCAGTTC	0.368000														52			13		0	0	0.002450	0	0
NMUR2	56923	broad.mit.edu	37	5	151771938	151771938	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:151771938G>A	uc003luv.2	-	3	1228	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	354					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCAACTGTGGGTCATGCTGGG	0.512000														34			65		0	0	0.003610	0	0
C1orf168	199920	broad.mit.edu	37	1	57221585	57221585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:57221585G>A	uc001cym.4	-	6	1520	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	372										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTGGATAGGGAAAATTCTTC	0.393000														13			28		0	0	0.001512	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504921	151504921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:151504921G>A	uc003ilw.3	+	0	1845	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	247					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GGCGGCTGCCGAAACAAGTGC	0.637000														18			16		0	0	0.000958	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562082	11562082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:11562082C>T	uc001ash.4	+	1	1171	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	PTCHD2_uc001asi.1_Missense_Mutation_p.P345S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	345					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.P562S(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTACTTTTTTCCCACCGAGAG	0.652000														11			29		0	0	0.001512	0	0
ABCB4	5244	broad.mit.edu	37	7	87056159	87056159	+	Silent	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:87056159G>A	uc003uiv.1	-	15	2047	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	ABCB4_uc003uiw.1_Silent_p.G657G|ABCB4_uc003uix.1_Silent_p.G657G	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	657					cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.G657V(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GAGATTTCCAGCCATTTGGGG	0.393000														19			20		0	0	0.000958	0	0
OR6B1	135946	broad.mit.edu	37	7	143702018	143702018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:143702018C>T	uc003wdt.1	+	0	929	c.929C>T	c.(928-930)tCt>tTt	p.S310F		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCCAGCAGATCTGACTAGTCA	0.463000														12			7		0	0	0.003080	0	0
PRKAG3	53632	broad.mit.edu	37	2	219688558	219688558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:219688558C>T	uc002vjb.1	-	12	1416	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D		NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	466	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGACCACGCCCAAGAGATG	0.612000														25			29		0	0	0.001512	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117244	117244	+	RNA	SNP	G	A	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrGL000205.1:117244G>A	uc002kgk.4	+	0		c.622G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TGAGGAATTCGCCCCCAGATC	0.522000														38			11		0	0	0.000978	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150128303	150128304	+	Frame_Shift_Ins	INS	-	AGTGTGAAGAG	AGTGTGAAGAG			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:150128303_150128304insAGTGTGAAGAG	uc001ett.3	+	2	499_500	c.221_222insAGTGTGAAGAG	c.(220-222)gacfs	p.D74fs	PLEKHO1_uc001ets.3_5'UTR|PLEKHO1_uc001etu.3_5'UTR|PLEKHO1_uc021oyc.1_5'Flank	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	74	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCTGAGTGACTATGAGAAGT	0.460													---	62	---	---	37	---					
FMN2	56776	broad.mit.edu	37	1	240256023	240256024	+	In_Frame_Ins	INS	-	GCA	GCA			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:240256023_240256024insGCA	uc010pye.2	+	0	839_840	c.614_615insGCA	c.(613-615)ctg>ctGCAg	p.212_213insQ	FMN2_uc010pyd.2_In_Frame_Ins_p.212_213insQ	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	212	Gln-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCGATCCGCCTgcagcagcagc	0.639													---	19	---	---	10	---					
LAMP3	27074	broad.mit.edu	37	3	182871520	182871521	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:182871520_182871521delAG	uc003flh.4	-	1	932_933	c.708_709delCT	c.(706-711)ctctgtfs	p.L236fs		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	236					cell proliferation	integral to membrane|lysosomal membrane		p.C237C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GCTTTTATACAGAGTCTGCTTC	0.500													---	63	---	---	15	---					
FBXL18	80028	broad.mit.edu	37	7	5540665	5540666	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:5540665_5540666delAG	uc003soo.2	-	2	1328_1329	c.1234_1235delCT	c.(1234-1236)ctgfs	p.L412fs	FBXL18_uc003son.4_Frame_Shift_Del_p.L412fs	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	412									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CAGGTGACGCAGCCGGGCCAGG	0.752													---	20	---	---	10	---					
AGAP2	116986	broad.mit.edu	37	12	58120931	58120951	+	In_Frame_Del	DEL	CAGCGGCTCCTCCGAGGTGCT	-	-			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:58120931_58120951delCAGCGGCTCCTCCGAGGTGCT	uc001spq.3	-	17	3142_3162	c.3142_3162delAGCACCTCGGAGGAGCCGCTG	c.(3142-3162)agcacctcggaggagccgctgdel	p.STSEEPL1048del	AGAP2_uc001spp.3_In_Frame_Del_p.STSEEPL1047del|AGAP2_uc001spr.3_In_Frame_Del_p.STSEEPL692del|LOC100130776_uc001sps.4_In_Frame_Del_p.SGSSEVL53del	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	1048	Arf-GAP.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GCTGGCGGCCCAGCGGCTCCTCCGAGGTGCTCAGCGGCGCC	0.670											OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	3	---	---	7	---					
DAZAP1	26528	broad.mit.edu	37	19	1428952	1428957	+	In_Frame_Del	DEL	GGCCAG	-	-			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:1428952_1428957delGGCCAG	uc002lsn.3	+	7	847_852	c.658_663delGGCCAG	c.(658-663)ggccagdel	p.GQ220del	DAZAP1_uc002lsm.3_In_Frame_Del_p.GQ220del	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	220					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		TGGCTGGGCAGGCCAGCCCCCGCCCA	0.689													---	7	---	---	11	---